Phage Response to CRISPR-Encoded Resistance in <i>Streptococcus thermophilus</i>

✅ 全文

噬菌体对嗜热链球菌中CRISPR编码抗性的响应

作者 Hélène Deveau; Rodolphe Barrangou; Josiane E. Garneau; Jessica Labonté; Christophe Fremaux; Patrick Boyaval; Dennis Romero; Philippe Horvath; Sylvain Moineau 期刊 Journal of Bacteriology 发表日期 2007 ISSN 0021-9193 DOI 10.1128/jb.01412-07 类型 原创研究 (Original Research)

📄 中文摘要 Chinese Abstract

中文
成簇规律间隔短回文重复序列(CRISPR)及其相关基因构成了细菌中一种新近发现的获得性噬菌体抗性机制。在嗜热链球菌(*Streptococcus thermophilus*)——一种用于酸奶和奶酪生产的关键工业乳酸菌中,烈性噬菌体对发酵过程构成严重威胁。此前研究表明,CRISPR位点通过整合源自噬菌体的短序列(间隔序列)来赋予噬菌体抗性,但该系统——尤其是CRISPR1——的效率、特异性及进化动力学尚未被充分表征。本研究旨在阐明嗜热链球菌中CRISPR1介导的噬菌体抗性的功能细节,包括间隔序列的获取模式、抗性所需的序列要求以及噬菌体的反适应机制。

📋 英文结构化总结 English Structured Summary

全文整理

EN

Background:

Clustered regularly interspaced short palindromic repeats (CRISPR) and their associated genes constitute a recently identified mechanism of acquired resistance against bacteriophages in bacteria. In *Streptococcus thermophilus*, a key industrial lactic acid bacterium used in yogurt and cheese production, virulent phages pose a significant threat to fermentation processes. Prior studies suggested that CRISPR loci integrate short phage-derived sequences (spacers) to confer phage resistance, but the efficiency, specificity, and evolutionary dynamics of this system—particularly CRISPR1—were not fully characterized. This study aimed to elucidate the functional details of CRISPR1-mediated phage resistance in *S. thermophilus*, including spacer acquisition patterns, sequence requirements for resistance, and phage counter-adaptations.

Methods:

The research employed microbiological assays (phage adsorption, efficiency of plaquing [EOP], efficiency of center of infection [ECOI], cell survival, and one-step growth curves) to characterize CRISPR1-mediated resistance. Bacteriophage-insensitive mutants (BIMs) were isolated from *S. thermophilus* strains DGCC7710 and SMQ-301 following challenges with virulent phages 2972, 858, and DT1. The CRISPR1 loci of BIMs were sequenced to analyze newly acquired spacers. The complete genome of phage 858 was sequenced and compared with those of phages 2972 and DT1. Proto-spacer regions in phage genomes were identified and analyzed for flanking motifs. Phage mutants capable of infecting BIMs were isolated and their proto-spacer and flanking regions sequenced to identify escape mutations.

Results:

CRISPR1 was confirmed as a novel phage resistance system distinct from known mechanisms (adsorption inhibition, DNA ejection blocking, restriction-modification, abortive infection). It provided resistance against both major groups of *S. thermophilus* phages (cos-type and pac-type). Analysis of 30 BIMs showed that acquisition of a single new spacer at the leader end of CRISPR1 was the most common outcome of phage challenge. Iterative addition of spacers increased overall resistance. Newly acquired spacers were 29–31 nucleotides long, with 30 nt being predominant. All functional spacers were identical to a corresponding proto-spacer in the phage genome. A conserved CRISPR1-specific motif, NNAGAAW, located downstream of the proto-spacer, was critical for resistance. Phage mutants escaping CRISPR1 resistance harbored single nucleotide mutations or deletions either within the proto-spacer or in the AGAA motif of the flanking region.

Data Summary:

Among 30 BIMs analyzed, 21 acquired one new spacer, seven acquired two, one acquired three, and one acquired four. Of 39 new spacers characterized, 32 were 30 nt long, five were 29 nt, and two were 31 nt. Thirty-seven spacers showed 100% identity to phage proto-spacers; two had a single mismatch. The AGAAW motif was present downstream of 34 of 39 proto-spacers. Spacers preferentially originated from the coding strand (71.7%) and early-expressed phage regions (56.4%). Twenty phage mutants were analyzed: eight had single-nucleotide mutations in the proto-spacer, three had two-nucleotide mutations, seven had mutations in the AGAA motif, and two had deletions (75 bp and 1 bp).

Conclusions:

CRISPR1 represents a highly effective, adaptive, and heritable phage resistance mechanism in *S. thermophilus* that operates independently of previously known defense systems. Resistance requires perfect or near-perfect identity between the acquired spacer and the phage proto-spacer, as well as an intact downstream NNAGAAW motif. The system allows iterative enhancement of resistance through sequential spacer acquisition without apparent fitness cost. Phages rapidly evolve to escape CRISPR1 via point mutations or deletions in the proto-spacer or its flanking motif, demonstrating a dynamic co-evolutionary arms race between host and virus.

Practical Significance:

These findings provide a scientific foundation for designing robust, phage-resistant *S. thermophilus* strains for industrial dairy fermentations. By leveraging the natural CRISPR-based immune system, it is possible to develop multiresistant starter cultures through controlled phage challenges, reducing fermentation failures and improving product consistency in yogurt and cheese manufacturing.

📋 中文结构化总结 Chinese Structured Summary

中文

背景:

成簇规律间隔短回文重复序列(CRISPR)及其相关基因构成了细菌中一种新近发现的获得性噬菌体抗性机制。在嗜热链球菌(*Streptococcus thermophilus*)——一种用于酸奶和奶酪生产的关键工业乳酸菌中,烈性噬菌体对发酵过程构成严重威胁。此前研究表明,CRISPR位点通过整合源自噬菌体的短序列(间隔序列)来赋予噬菌体抗性,但该系统——尤其是CRISPR1——的效率、特异性及进化动力学尚未被充分表征。本研究旨在阐明嗜热链球菌中CRISPR1介导的噬菌体抗性的功能细节,包括间隔序列的获取模式、抗性所需的序列要求以及噬菌体的反适应机制。

方法:

本研究采用微生物学检测方法(噬菌体吸附、噬斑形成效率[EOP]、感染中心形成效率[ECOI]、细胞存活率及一步生长曲线)来表征CRISPR1介导的抗性。从嗜热链球菌菌株DGCC7710和SMQ-301中,经烈性噬菌体2972、858和DT1攻毒后分离出噬菌体不敏感突变株(BIMs)。对BIMs的CRISPR1位点进行测序,以分析新获取的间隔序列。对噬菌体858的全基因组进行测序,并与噬菌体2972和DT1的基因组进行比较。鉴定噬菌体基因组中的原间隔序列区域并分析其侧翼基序。分离能够感染BIMs的噬菌体突变体,并对其原间隔序列及侧翼区域进行测序,以鉴定逃逸突变。

结果:

CRISPR1被确认为一种不同于已知机制(吸附抑制、DNA注入阻断、限制修饰、流产感染)的新型噬菌体抗性系统。它对嗜热链球菌两大主要噬菌体类群(cos型和pac型)均提供抗性。对30个BIMs的分析显示,在CRISPR1的引导端获取单个新间隔序列是噬菌体攻毒后最常见的结果。间隔序列的迭代添加增强了整体抗性。新获取的间隔序列长度为29–31个核苷酸,其中30个核苷酸最为常见。所有功能性间隔序列均与噬菌体基因组中对应的原间隔序列完全一致。位于原间隔序列下游的保守CRISPR1特异性基序NNAGAAW对抗性至关重要。逃逸CRISPR1抗性的噬菌体突变体在原间隔序列内或侧翼区域的AGAA基序中携带单核苷酸突变或缺失。

数据汇总:

在分析的30个BIMs中,21个获取了一个新间隔序列,7个获取了两个,1个获取了三个,1个获取了四个。在鉴定的39个新间隔序列中,32个为30个核苷酸长,5个为29个核苷酸,2个为31个核苷酸。37个间隔序列与噬菌体原间隔序列具有100%一致性;2个存在单个错配。34个原间隔序列的下游存在AGAAW基序。间隔序列优先来源于编码链(71.7%)和噬菌体早期表达区域(56.4%)。分析了20个噬菌体突变体:8个在原间隔序列中存在单核苷酸突变,3个存在双核苷酸突变,7个在AGAA基序中存在突变,2个存在缺失(分别为75 bp和1 bp)。

结论:

CRISPR1代表嗜热链球菌中一种高效、可适应且可遗传的噬菌体抗性机制,其独立于此前已知的防御系统发挥作用。抗性要求获取的间隔序列与噬菌体原间隔序列之间具有完全或近乎完全的一致性,同时需要完整的下游NNAGAAW基序。该系统允许通过顺序获取间隔序列来迭代增强抗性,且无明显适应性代价。噬菌体通过原间隔序列或其侧翼基序中的点突变或缺失快速进化以逃逸CRISPR1,展示了宿主与病毒之间动态的协同进化军备竞赛。

实际意义:

这些发现为设计用于工业乳制品发酵的强健、抗噬菌体嗜热链球菌菌株提供了科学基础。通过利用天然的CRISPR免疫系统,可通过受控的噬菌体攻毒开发多重抗性发酵剂,减少发酵失败并提高酸奶和奶酪生产中的产品一致性。

📖 英文全文 English Full Text

EN

JOURNAL OF BACTERIOLOGY, Feb. 2008, p. 1390–1400 Vol. 190, No. 4 0021-9193/08/$08.000 doi:10.1128/JB.01412-07 Copyright © 2008, American Society for Microbiology. All Rights Reserved. Phage Response to CRISPR-Encoded Resistance in Streptococcus thermophilus He´le`ne Deveau,1 Rodolphe Barrangou,2 Josiane E. Garneau,1 Jessica Labonte´,1 Christophe Fremaux,3 Patrick Boyaval,3 Dennis A. Romero,2 Philippe Horvath,3 and Sylvain Moineau1* De´partement de Biochimie et de Microbiologie, Faculte´ des Sciences et de Ge´nie, Groupe de Recherche en E´cologie Buccale, Faculte´ de Me´decine Dentaire, Fe´lix d’He´relle Reference Center for Bacterial Viruses, Universite´ Laval, Quebec City, Quebec G1V 0A6, Canada1; Danisco, USA, Inc., 3329 Agriculture Drive, Madison, Wisconsin 537162; and Danisco France SAS, BP10, F-86220 Dange´-Saint-Romain, France3 Received 31 August 2007/Accepted 21 November 2007 Clustered regularly interspaced short palindromic repeats (CRISPR) and their associated genes are linked to a mechanism of acquired resistance against bacteriophages. Bacteria can integrate short stretches of phage-derived sequences (spacers) within CRISPR loci to become phage resistant. In this study, we further characterized the efficiency of CRISPR1 as a phage resistance mechanism in Streptococcus thermophilus. First, we show that CRISPR1 is distinct from previously known phage defense systems and is effective against the two main groups of S. thermophilus phages. Analyses of 30 bacteriophage-insensitive mutants of S. thermophilus indicate that the addition of one new spacer in CRISPR1 is the most frequent outcome of a phage challenge and that the iterative addition of spacers increases the overall phage resistance of the host. The added new spacers have a size of between 29 to 31 nucleotides, with 30 being by far the most frequent. Comparative analysis of 39 newly acquired spacers with the complete genomic sequences of the wild-type phages 2972, 858, and DT1 demonstrated that the newly added spacer must be identical to a region (named proto-spacer) in the phage genome to confer a phage resistance phenotype. Moreover, we found a CRISPR1-specific sequence (NNAGAAW) located downstream of the proto-spacer region that is important for the phage resistance phenotype. Finally, we show through the analyses of 20 mutant phages that virulent phages are rapidly evolving through single nucleotide mutations as well as deletions, in response to CRISPR1. Streptococcus thermophilus is one of the most industrially important lactic acid bacteria since it is widely used for the manufacture of yogurt and a number of cheeses. Several strains of this low GC gram-positive species are used in large-scale milk fermentations because each strain possesses its own distinctive properties that are suitable for the manufacture of an array of fermented products, each with unique organo- leptic properties. The systematic use of the same S. ther- mophilus strains in dairy processes has been impaired by the ubiquitous presence of virulent phages. Consequently, S. thermophilus bacteriophages have been the subject of extensive research in recent years with the aim of preventing their mul- tiplication (8, 12). S. thermophilus phages, like their hosts, are rather homoge- nous since they all belong to one polythetic species containing both temperate and virulent phages (9, 13). S. thermophilus phages are morphologically similar to coliphage lambda and accordingly belong to the Siphoviridae family. S. thermophilus phages are currently classified into two groups based on their general DNA packaging scheme (cos or pac) and the compo- sition of their structural proteome (27). Seven complete ge- nome sequences of S. thermophilus phages are publicly avail- able, including those of the cos-type phages DT1, Sfi19, Sfi21, and 7201 and the pac-type phages O1205, Sfi11, and 2972 (28). Information on phage-host interactions has increased appre- ciably in recent years. It is well known that bacteria have a plethora of mechanisms to fight a diverse phage population (10). Traditionally in lactic acid bacteria, natural phage de- fense systems are divided in four main groups, namely, the inhibition of phage adsorption, the inhibition of DNA ejection, restriction-modification systems, and abortive infection (Abi) systems (10, 24). Globally, these mechanisms have been exten- sively studied in Lactococcus lactis, as well as in Escherichia coli (10). Unfortunately, few of these natural phage resistance mechanisms have been found in S. thermophilus (35). To cope with virulent phages and the lack of known defense mecha- nisms, the dairy industry has developed protocols to rapidly isolate bacteriophage-insensitive S. thermophilus mutants (BIMs) (39). These BIMs are spontaneous, naturally occurring phage-resistant descendants that survive exposure to virulent phages. Up until recently, the mechanism responsible for this resistance was often attributed to mutations in the phage re- ceptors (2, 15). The complete genome sequence of three S. thermophilus host strains is now available (4, 11, 31). Comparative analyses of these closely related S. thermophilus strains have revealed that genetic polymorphisms primarily occur at a few hypervari- able regions, including three CRISPR loci (4, 5, 22, 31). These CRISPR loci have been found in a wide range of bacterial genomes (19, 23, 30). They are composed of 21 to 48-bp direct DNA repeats interspersed with nonrepetitive spacers of similar length. The direct repeats are highly conserved, while the num- ber and sequence of the spacers are diverse, even among strains of a same species. Sequence similarities between spac- * Corresponding author. Mailing address: Groupe de Recherche en E´cologie Buccale, Faculte´ de Me´decine Dentaire, Universite´ Laval, Quebec City, Quebec G1V 0A6, Canada. Phone: (418) 656-3712. Fax: (418) 656-2861. E-mail: Sylvain.Moineau@bcm.ulaval.ca.  Published ahead of print on 7 December 2007. 1390 ers and extrachromosomal elements such as phages and plas- mids led to the hypothesis that the CRISPR loci as well as CRISPR-associated genes (cas) play a role in protecting cells from the invasion of foreign DNA (5, 20, 30, 36, 37). In fact, it was recently demonstrated that CRISPR1/cas provides resis- tance against virulent phages in S. thermophilus (2). We recently used S. thermophilus strain DGCC7710 and the virulent pac-type phages 2972 and 858 to show that CRISPR plays a role in the development of BIMs (2). Specifically, we found that in response to challenges with phage 858 and/or 2972, S. thermophilus DGCC7710 integrates new spacers de- rived from the phage genomes, generating a phage-resistant phenotype. The specificity of the resistance was determined by the identity between spacer and phage sequences (2). While the insertion of new spacers provided significant phage resis- tance, a small population of phages was able to infect the BIMs. This suggested that both CRISPR locus and phage genomic regions are subject to rapid evolutionary changes (2). In the present study, we investigated the role of one of these CRISPR loci (CRISPR1) in phage-host interactions in S. ther- mophilus in greater detail. First, we demonstrated that this phage resistance mechanism is unique since it does not corre- spond to any known natural prokaryote antiviral barrier. More- over, we analyzed BIMs derived from another S. thermophilus strain, namely, SMQ-301 (40), and show that its CRISPR1 locus can provide resistance against cos-type S. thermophilus phages. Finally, the homologous spacer region in the phage genome, which we propose to name proto-spacer, was analyzed for phage mutants infecting BIMs. Some of these phages showed a direct response to CRISPR1 by either a single nu- cleotide mutation or a deletion, in the proto-spacer region. Interestingly, in other phage mutants, a single nucleotide mu- tation was found in a short region (AGAA) that is located two nucleotides downstream of the proto-spacer sequence in the phage genome. MATERIALS AND METHODS Bacterial strains, phages, and microbiological assays. S. thermophilus host strains and their BIM derivatives (Tables 1 and 2) were grown in M17 broth supplemented with 0.5% lactose (LM17) at 42°C. Phages were propagated in LM17 supplemented with 10 mM calcium chloride. High-titer phage lysates were obtained as described elsewhere (28). The efficiency of plaquing (EOP) was determined by dividing the phage titer obtained by plating on a BIM by the titer obtained by plating the same phage on a sensitive host strain. Phage adsorption assays were performed as reported previously (16). Cell survival was assayed (3) by using a multiplicity of infection (MOI) of 5. For the efficiency of center of infection (ECOI) experiments, cells in exponential-phase (i.e., an optical density TABLE 1. Phage sensitivity of isolated BIMs derived from S. thermophilus strain DGCC7710 Strain Phage used for challenge Sensitivity to phagea: Source or reference 2972 858 DGCC7710   28 DGCC7710858 S1S2 858  – 2 DGCC7710858 S3 858 – – 2 DGCC77102972 S4 2972 –  2 DGCC77102972 S5 2972 –  2 DGCC77102972 S6 2972 – – 2 DGCC77102972 S7 2972 – – 2 DGCC77102972 S8 2972 –  2 DGCC77108582972 S9S10S11S12 2972  858 – – 2 DGCC77108582972 S13S14 2972  858 – – 2 DGCC77102972 S15 2972 – – This study Derivatives of DGCC7710858 S1S2 DGCC7710858 S1S2 2972 S16S17 2972 – – This study DGCC7710858 S1S2 2972 S18S17 2972 – – This study DGCC7710858 S1S2 2972 S19 2972 – – This study Derivatives of DGCC77102972 S4 DGCC77102972 S4 858 S30 858 – – This study DGCC77102972 S4 858 S32 858 – – This study DGCC77102972 S4 858 S33 858 – – This study Derivatives of DGCC77102972 S6 DGCC77102972 S6 2972.S6B S20 2972.S6B – – This study DGCC77102972 S6 2972.S6B S30 2972.S6B – – This study DGCC77102972 S6 2972.S6B S31 2972.S6B – – This study Derivatives of DGCC77102972 S6 2972.S6B S20 DGCC77102972 S6 2972.S6B S20 2972.S20A S21S22 2972.S20A – – This study DGCC77102972 S6 2972.S6B S20 2972.S20A S23 2972.S20A – – This study DGCC77102972 S6 2972.S6B S20 2972.S20A S24 2972.S20A – – This study DGCC77102972 S6 2972.S6B S20 2972.S20A S25S26 2972.S20A – – This study DGCC77102972 S6 2972.S6B S20 2972.S20A S27 2972.S20A – – This study DGCC77102972 S6 2972.S6B S20 2972.S20A S28 2972.S20A – – This study DGCC77102972 S6 2972.S6B S20 2972.S20A S29 2972.S20A – – This study a , Sensitive to phage; –, insensitive to phage (EOP  104). VOL. 190, 2008 CRISPR-ENCODED RESISTANCE IN S. THERMOPHILUS 1391 at 600 nm of 0.6) were infected by using an MOI of 5. Phages were first allowed to adsorb for 15 min, and then the unbound phages were removed by a quick centrifugation. The pellet of infected cells was washed twice with fresh LM17 broth. ECOI formation was calculated by dividing the phage titer obtained by plating resistant infected cells by the titer obtained with the sensitive infected strain. One-step growth curves (32) were performed by using an MOI of 0.2. The burst size was determined by dividing the average titer after the rise period by the average titer before the bacteria began to release virions. For each microbiolog- ical test, the mean value and the standard deviation were calculated from three independent experiments. Isolation of BIMs. BIMs were obtained by challenging sensitive S. thermophi- lus strains with virulent phages 2972 (28), 858 (28), or DT1 (40) or with mutant phages (see below). BIMs were also obtained by challenging S. thermophilus strains with a mixture of phages 2972 and 858 at a ratio of 1:1. Briefly, 100 l of an overnight culture of S. thermophilus was used to inoculate 10 ml of LM17, which was incubated at 42°C until the optical density at 600 nm reached 0.3. Phages and calcium chloride were then added at final concentrations of 107 PFU/ml and 10 mM, respectively. The phage-containing culture was incubated at 42°C for 24 h and monitored for lysis. A total of 100 l of the lysed culture was then used to inoculate 10 ml of fresh LM17. The remaining lysate was centri- fuged, and the pellet was transferred into another tube containing 10 ml of LM17 broth. These two cultures were incubated at 42°C for 16 h, serially diluted (1/10), and plated on LM17. The phage sensitivity of the isolated BIMs was first esti- mated by a spot test (33). Isolation and characterization of mutant phages. All phage mutants were single-plaque purified three times and propagated as previously described (34). Twenty well-defined plaques from four BIMs were isolated and analyzed. The individual phages were propagated on the BIM used to isolate them and were designated by the name of the parental wild-type phage followed by the new spacer number in the host strain. A different letter was added to identify each distinct phage mutant. Phage DNA was isolated as described previously from 1 ml of phage lysate (34). Restriction endonucleases (Roche Diagnostics) were used as recommended by the manufacturer. When necessary, restricted phage DNA samples were heated for 10 min at 70°C to prevent cohesive end ligation. The DNA fragments were separated on 0.8% agarose gels in 1 TAE buffer and UV visualized after staining with ethidium bromide. DNA sequencing of the 858 phage genome. Genomic DNA of virulent phage 858 was isolated by using Qiagen Lambda Maxi kit with previously described modifications (14). The primers used to sequence the genome of virulent phage 2972 (28) were used to begin sequencing the genome of the closely related phage 858, using isolated phage DNA as a template. New primers were designed from the nucleotide sequence, and primer walking on the two DNA strands was used to complete the sequencing of the genome. An ABI Prism 3700 at the genomic platform of the Centre Hospitalier de l’Universite´ Laval was used for the sequencing. ORF Finder (http://www.ncbi.nlm.nih.gov/gorf/gorf.html) and GeneMark.hmm (http://opal.biology.gatech.edu/GeneMark/gmhmm2_prok.cgi) were used for DNA sequence searches (29). PSI-BLAST and Advanced BLAST Search 2.1 were also used for sequence comparisons (http://www.ncbi.nlm.nih .gov/BLAST) (1). Only the best match is presented. Sequencing the CRISPR1 locus in S. thermophilus strains and the proto- spacer region in the phage genomes. The CRISPR1 locus of the BIMs (including repeats and spacers) and the proto-spacer region in the phage genomes were sequenced from PCR products. Total bacterial DNA was prepared as described previously (21). Computer-assisted DNA analyses of the CRISPR loci were performed by using the Staden Package (38) (http://staden.sourceforge.net/), CLUSTALW (http://www.ebi.ac.uk/clustalw/), and DNA Display (http://www .mrgtech.ca/DNA). Nucleotide sequence accession numbers. The complete genomic sequences of the wild-type phages analyzed here are available under the indicated GenBank accession numbers: DT1 (AF085222), 2972 (AY699705), and 858 (EF529515). RESULTS Characterization of the phage resistance system. Phage re- sistance mechanisms are typically characterized by using a series of microbiological assays to determine their general mode of action. Wild-type virulent phage 2972, phage-sen- sitive strain S. thermophilus DGCC7710, and previously isolated S. thermophilus BIMs DGCC7710858 S3, DGCC 77102972 S4, and DGCC77102972 S4858S32 (2) were se- lected for these assays (Table 1 and Fig. 1). Strains DGCC7710858 S3 and DGCC77102972 S4 are BIM deriva- tives of DGCC7710 that have acquired a single new spacer in their respective CRISPR1 locus after a phage challenge, while DGCC77102972 S4858S32 is a second-generation BIM de- rived from the first-generation BIM DGCC77102972 S4, and thus it has acquired a second spacer after a second phage chal- lenge. Phage adsorption assays showed that phage 2972 adsorbed at the same level (90%) to phage-sensitive and phage-resistant strains (Table 3), indicating that the addition of a new spacer in CRISPR1 did not prevent phage adsorption. The isolation of second generation of CRISPR BIMs through the addition of new spacers (originating from the phage genome) precludes that this defense mechanism prevents the ejection of the phage DNA into the cell. Ruling out restriction-modification systems was the isolation of two mutants of phage 2972 from DGCC7710858 S3 or DGCC77102972 S4 (at a frequency of 105) that propagate on their respective BIM hosts and wild- type DGCC7710 with equal efficiency (EOP  1.0), even after passage through DGCC7710 (data not shown). One character- istic feature of Abi mechanisms is the high cell mortality fol- lowing the abortion of phage infection (10). Cell survival assays showed that between 64 to 73% of the phage-resistant S. ther- mophilus strains survive the phage infection (Table 3), indicat- ing that CRISPR1 is not an Abi mechanism (10). Interestingly, some infected cells still released virions (Table 3). The burst size, however, was significantly reduced, decreasing from 190 new phages per sensitive host cell (DGCC7710) to between 6 and 28 new virions, depending on the infected BIM strain (Table 3). Of note, the phage latency period was similar in the sensitive and first-generation BIMs (between 39 to 44 min at 42°C) but longer in the second-generation BIM (Table 3). Collectively, these results indicate that CRISPR1 is indeed a novel phage resistance system. Iterative addition of spacers. It has been shown that the addition of a new spacer in the CRISPR1 locus can increase the phage resistance of a particular strain (2). However, the replication of a small number of phages still occurs (Table 3). It has also been reported that the random acquisition of mul- tiple spacers (up to 4) after only one phage challenge can lead to increased phage resistance (2). We wanted to determine whether successive phage challenges and the subsequent iter- ative addition of spacers could lead to even greater phage protection. For these experiments, we used S. thermophilus DGCC7710 derivatives that are still sensitive to virulent phage 2972 TABLE 2. Phage sensitivity of isolated BIMs derived from S. thermophilus strain SMQ-301 Strain Phage used for challenge Sensitivity to phage DT1a Source or reference SMQ-301  40 SMQ-301DT1 S34S35 DT1 – This study SMQ-301DT1 S36S37 DT1 – This study SMQ-301DT1 S38S36S37 DT1 – This study SMQ-301DT1 S39 DT1 – This study a , Sensitive to phage; –, insensitive to phage (EOP  104). 1392 DEVEAU ET AL. J. BACTERIOL. or virulent phage 858. We selected S. thermophilus DGCC77102972 S4 obtained after a challenge with phage 2972 (but still sensitive to 858) and S. thermophilus DGCC7710858 S1S2 obtained after a challenge with phage 858 (but still sensitive to 2972) (2). Both BIMs were infected with the appropriate virulent phage (DGCC77102972 S4 with 858 and DGCC7710858 S1S2 with 2972) using the BIM isola- tion procedure previously described. For each challenge, sev- eral new BIMs were obtained, and three were selected for further characterization. In all cases, one or two new spacers were acquired at the leader end of the CRISPR1 locus (Table 1), which provided resistance to the second phage (Table 4). Interestingly, the EOP of the phage 2972 was decreased with the addition of a second spacer identical to the phage 2972 in the strain DGCC77102972 S4858S32, indicating that accu- mulating spacers can increase the overall phage resistance of the host (Table 4). Moreover, S. thermophilus DGCC77102972 S6, a BIM re- sistant to both wild-type phages 2972 and 858 (Table 1), was challenged with a mutant phage (2972.S6B, Fig. 2) that is capable of bypassing the CRISPR1-mediated resistance due to a single nucleotide mutation in the S6 targeted region of its FIG. 1. S. thermophilus CRISPR1 locus overview and newly acquired spacers in various phage-resistant mutants. (A) Repeat/spacer region of strain DGCC7710 and the selected BIM named DGCC77102972 S15. Repeats are shown as black diamonds, spacers are numbered in gray boxes, and the leader (L) is shown as a white box. The terminal repeat of CRISPR1 locus is represented with a letter “T” inside the black diamond. (B) The spacer content at the 5 end of the locus in various phage-resistant mutants is represented. The newly added spacers are indicated in white boxes with a designation containing the prefix S, followed by a number. The 3 end of CRISPR1 in BIMs is identical to that of the wild-type strain. (C) Repeat/spacer region of S. thermophilus strain SMQ-301 and its derivatives. TABLE 3. Microbiological effects of the new spacer presence on the bacteriophage 2972 Strain Mean SDa EOP Adsorption (%) ECOI (%) Cell survival (%) Burst size Latent period (min) DGCC7710 1 89.3 2.6 100

1 190 33 40 3 DGCC7710858 S3 (1.7 0.9)  105 94.3 6.0 18.6 1.9 72.5 3.5 7 2 39 2 DGCC77102972 S4 (1.8 2.0)  105 90.3 5.3 19.7 3.7 64.7 5.2 28 2 44 4 DGCC77102972 S4 858 S32

107 91.9 6.4 10.8 8.1 66.1 10.5 6 4 55 5 a Results are the means of three independent experiments. VOL. 190, 2008 CRISPR-ENCODED RESISTANCE IN S. THERMOPHILUS 1393 genome (see below). Three new BIMs that were resistant to phage 2972.S6B were obtained and their CRISPR1 loci an- alyzed. These second-generation BIMs had also acquired a new and unique spacer at the leader end of their CRISPR1 (Table 1). Subsequently, a second-generation BIM (DGCC 77102972 S62972.S6BS20) was challenged with another phage mutant (2972.S20A), resulting in a set of third-generation BIMs. Seven distinct third-generation BIMs were obtained, each of them had acquired one or two new spacers at the leader end of CRISPR1 (Table 1 and Fig. 1B). Taken alto- gether, these data clearly indicate that iterative addition of spacers is possible, resulting in increased phage resistance of these isogenic S. thermophilus strains. It also confirms that CRISPR loci, as well as phages, rapidly change in response to each other. CRISPR1 analysis of another phage-host system in S. ther- mophilus. Until now (see above and reference 2), the study of S. thermophilus CRISPR1 was performed with a single host and two phages, i.e., S. thermophilus DGCC7710 and virulent pac-type phages 2972 and 858 (and their phage mutants). To determine whether the main conclusions described above ap- ply to another S. thermophilus phage-host system, we isolated BIMs from S. thermophilus SMQ-301 challenged with the vir- ulent cos-type phage DT1 (40), one of the best-characterized cos-type phages in S. thermophilus (15, 16, 17, 26). The analysis of the CRISPR1 locus of wild-type phage-sensitive strain S. thermophilus SMQ-301 revealed the presence of 16 unique spacers, half the number found in DGCC7710. It should be noted that the spacers of SMQ-301 are distinct from those in DGCC7710 (22). It was previously reported that BIMs from S. TABLE 4. EOPs of the wild-type phages on various S. thermophilus strains S. thermophilus strain No. of spacers identical to phage: Mean EOP SDa for phage: 2972 858 2972 858 DGCC7710 0 0 1.0 1.0 DGCC77102972 S4 1 0 (1.8 2.0)  105 0.87 0.04 DGCC77102972 S4 858 S32 2 1

107 (2.4 1.3)  105 DGCC7710858 S1S2 0 1 0.67 0.45 (9.3 9.3)  106 DGCC7710858 S1S2 2972 S19 1 1 (3.1 1.7)  104 (1.6 1.3)  106 a Results are the means of three independent experiments. FIG. 2. Nucleotide sequences in wild-type and mutant phages that correspond to the newly acquired spacers by the S. thermophilus strains. The AGAA motif is highlighted in gray. Each mutation is in boldface and underlined. *, Deletion. 1394 DEVEAU ET AL. J. BACTERIOL. thermophilus SMQ-301 are difficult to obtain (15); however, using the improved protocol described here, four BIMs resis- tant to DT1 were obtained and analyzed (Table 2 and Fig. 1C). In all cases, one to three additional spacers derived from the genome of DT1 were inserted into the CRISPR1 locus (Table 5 and Fig. 3). These findings confirm that CRISPR-mediated phage resistance can protect S. thermophilus against represen- tatives of the two main groups of phages and that it operates through a general mechanism of action. Analysis of the newly acquired spacers in the CRISPR1 locus of S. thermophilus BIMs. The spacer content of 26 BIMs derived from strain S. thermophilus DGCC7710 (generated in the present study and previously described [2]), as well as of the 4 BIMs from S. thermophilus SMQ-301, was analyzed (Ta- ble 1 and Fig. 1). Of the 30 analyzed BIMs, 21 had acquired a single new spacer, seven had acquired two new spacers, one had acquired three new spacers, and one had acquired four new spacers. Thus, the addition of a single new spacer in CRISPR1 appeared to be a common outcome of a phage challenge. The original 32 spacers in DGCC7710 were conserved in all but one first-generation BIM, namely, S. thermophilus DGCC77102972 S15. Interestingly, this BIM had acquired a new spacer at the leader end but lost the first 17 spacers present in wild-type strain S. thermophilus DGCC7710. More- over, two of the four BIMs of SMQ-301 had also lost seven of the original spacers (spacers 4 through 10), suggesting that spacer deletion may occur concomitantly with the addition of new spacers (Table 2 and Fig. 1C). All 30 analyzed BIMs acquired at least one new spacer at the leader end of CRISPR1. Surprisingly, in two BIMs of SMQ- 301, a second new spacer was also added after the third orig- inal spacer. Of note, these two BIMs were also the ones that had lost seven of the original spacers. Thus, the addition of new spacers is clearly polarized toward one end of the CRISPR1 locus, and the acquisition of new spacers within CRISPR1 is also possible, albeit rare. A total of 33 new spacers were acquired by the 26 BIMs derived from S. thermophilus DGCC7710 challenged with vir- ulent phage 2972 or 858. In addition, six distinct spacers were acquired by the four BIMs of S. thermophilus SMQ-301 that was challenged with phage DT1. Analysis of these 39 new spacers showed that 32 of them were 30 nucleotides long (Ta- ble 5). Five spacers were 29 nucleotides long, while the remain- ing two spacers were 31 nucleotides long. Evidently, the addi- tion of a 30-nucleotide-long spacer is the most frequent event, in agreement with the observation that the vast majority of CRISPR1 spacers have a 30-bp length (22). Comparison of the 39 new spacers with three S. thermophilus phage genomes. To compare the newly acquired spacers with the genomic regions of the corresponding phages used in the challenge experiments, the complete genome of virulent phage 858 was sequenced (Table 6). The genomes of phages 2972 and DT1 were previously determined (28, 40). The annotation of phage 858 genome is presented in Table 6. As expected, it is highly related to other pac-type phages of S. thermophilus (28). The 858 and 2972 phage genomes share 90.9% nucleotide identity. Briefly, its linear double-stranded DNA contains 35,543 bp with an overall GC content of 39.8%. Only 5 of the 46 predicted open reading frames (ORFs) of phage 858 did not have close homologs in other S. thermophilus phages. In fact, three of them (ORF38, ORF39, and ORF40) were closer to deduced ORFs from the genome of Streptococcus suis 89/1591. Using the complete genomic sequences of phages 858, 2972, and DT1, we performed comparative analyses with the 39 newly added spacers found in the 30 analyzed S. thermophilus BIMs. The nucleotide sequence of 37 spacers out of 39 was 100% identical to a specific region found in the genome of at least one wild-type phage used in the challenge experiments (Table 5 and Fig. 3A). Spacers S2 and S26 had one mismatch with the proto-spacer in the phage genomes (Table 5). How- ever, the BIMs containing these two mismatched spacers had also acquired other spacers that were identical to a phage genomic region. Further analyses of the phage genomes indicated that all 39 new spacers analyzed in the present study correspond to a predicted coding region. Moreover, the spacer sequences cov- ered all phage modules as well as both strands. However, the new spacers originated most often from the coding strand than the noncoding strand (28 of 39 spacers from the coding strand [71.7%]), and about half of them were localized in the early expressed region of the phage genome (22 of 39 spacers [56.4%]), although this latter region corresponded to only 27 to 31% of the phage genome (17) (Table 5 and Fig. 3A). Interestingly, some spacers (S30, S36, and S37) were indepen- dently acquired by two BIM strains (Table 1). Comparative analyses of the regions flanking the proto-spac- ers in the phage genomes led to the identification of a specific sequence that was always located two nucleotides (NN) down- stream from the proto-spacers (Table 5). This CRISPR1-spe- cific sequence corresponds to the motif described recently (22). In fact, 34 of the 39 proto-spacers had the 3-flanking AGAAW motif. The other five proto-spacers (corresponding to spacers S2, S11, S13, S35, and S38) had one mismatched nucleotide in the AGAAW motif. However, these five spacers were found in BIMs that had acquired multiple spacers after the phage chal- lenge. To determine whether the strand and temporal expres- sion biases noted above could be explained by the presence of the AGAAW motif, the distribution of this conserved se- quence was analyzed in the genome of the three phages 2972, 858, and DT1 (Fig. 3B). The AGAAW motif was found almost three times more frequently on the coding strand than on the noncoding strand, with average values for the three S. ther- mophilus phages of 5.0 AGAAW/kb on the coding strand and 1.7 AGAAW/kb on the noncoding strand. These results sug- gest that spacer acquisition may not be random and that there may be a limited number of proto-spacers to be included in CRISPR1. On the other hand, between 36 and 40% of these motifs were found in the early expressed modules, while 56.4% of the acquired spacers correspond to this region. Thus, the proportion of the AGAAW motifs in the different transcrip- tion modules cannot totally explain the observed bias for the early expressed region. Phage response to the acquisition of a new spacer. As indi- cated elsewhere (2), phage mutants capable of infecting newly generated BIMs can be isolated under laboratory conditions. The characterization of phage mutants obtained through the selective pressure of resistance systems is particularly useful, since it has previously led to a better understanding of novel phage defense mechanisms (6, 25, 41). Using a similar ap- VOL. 190, 2008 CRISPR-ENCODED RESISTANCE IN S. THERMOPHILUS 1395 TABLE 5. List of new spacers found in CRISPR1 and the corresponding region in phages 2972, 858, and DT1 Spacer Phagea 5 positionb Spacer length (pb) Proto-spacer sequencec 3 flanking regiond Strand/modulee ORF/function in the genome of the phage used in the challenge S1 858 31378 30 CAACACATTCAACAGATTAATGAAGAATAC AAAGAAAAAA ()/E ORF40/primase S2 2972* 25432 30 TCCACTCACGTACAAATAGTGAGCGTACTC CTAAAAGGAT (–)/L ORF27/unknown S3 2972* 17202 30 TTACGTTTGAAAAGAATATCAAATCAATGA CGAGAAAGAT ()/L ORF20/receptor-binding protein S4 2972 31582 30 CTCAGTCGTTACTGGTGAACCAGTTTCAAT TGAGAAAAAA ()/E ORF38/primase S5 2972 22075 30 AGTTTCTTTGTCAGACTCTAACACAGCCGC TCAGAAAGTT ()/L ORF21/tail protein S6 2972* 34521 30 GCCCTTCTAATTGGATTACCTTCCGAGGTG TTAGAATTCC (–)/E ORF44/unknown S7 2972* 10299 30 AAGCAAGTTGATATATTTCTCTTTCTTTAT TAAGAAAACG (–)/L ORF17/unknown S8 2972 30016 29 CGTTTTCAGTCATTGGTGGTTTGTCAGCG AAAGAAATAA (–)/E ORF37/replication S9 2972* 7874 30 TTACTAGAGCGTGTCGTTAACCACTTTAAA TCAGAATATG ()/M ORF11/unknown S10 2972* 20650 30 TTCGTTAAAGTCACCTCGTGCTAGCGTTGC ATAGAAAGTT (–)/L ORF20/receptor-binding protein S11 2972* 8360 30 ATAACGGTAGCAAATATAAACCTGTTACTG TCAGAAGCTA ()/M ORF12/unknown S12 2972a 18998 30 GAAGTAGCCATACAAGAAGATGGATCAGCA CCAGAAATTG ()/L ORF20/receptor-binding protein S13 2972* 33602 30 GATGTCACTGAGTGTCTAAGCATTGCGTAC GAGGAAATCA ()/E ORF42/DNA binding S14 2972* 4830 30 TGAATAAGCAGTTCTTGACGACCAACCGAC ATAGAAAAGT (–)/M ORF6/capsid protein S15 2972* 34444 29 CAATTAACACAGCAATTAACACAGTATAT ACAGAAATTG ()/E ORF44/unknown S16 2972* 6799 30 ATGCCATTCTTTAAAGAGGCTTTACTCGTT AAAGAAAACG ()/M ORF9/capsid protein S17 2972 30547 30 GTTGGCGGACTACTCCTTCGAGGGGTTGAT CCAGAAATTA ()/E ORF37/replication S18 2972 30370 29 GAAGCACCTCTTGCGTTGATAAAAGTATT GCAGAAAATG ()/E ORF37/replication S19 2972 31709 29 ACATATCGACGTATCGTGATTATCCCATT CAAGAAAACA ()/E ORF38/primase S20 2972* 1113 30 TTATATCGAAGAACGACTGAAAGAGCTTGA GAAGAAAAAA ()/M ORF2/small terminase S21 2972* 19188 30 AAATCAACGTACATCCCGATATAGGCACGA TTAGAATCAG (–)/L ORF20/receptor-binding protein S22 2972 31708 30 GACATATCGACGTATCGTGATTATCCCATT CAAGAAAACA ()/E ORF38/primase S23 2972 26529 31 TGAAGTATTAGGTCTCTCAAAAGATGATATT GTAGAATACT ()/E ORF31/Cro-like repressor S24 2972 29923 30 AGTTGATTGCGTAATCAACCATCTCCATAA TTAGAATGGA (–)/E ORF37/replication S25 2972* 441 30 GCAACACTCAAACGTTGCAAACGCAAGCTT CGAGAATATC ()/E ORF1/unknown S26 2972 31606 31 CTCAGTCGTTACTGGTGAACCAGTT*TCAAT TGAGAAAAAA ()/E ORF38/primase S27 2972* 27032 30 TTTCATCGTCAATTTCCATGTTATAAATCT CTAGAAACTG (–)/E ORF33/unknown S28 2972 26530 30 GAAGTATTAGGTCTCTCAAAAGATGATATT GTAGAATACT ()/E ORF31/cro-like repressor S29 2972 32136 29 ATTGGCATGATTTCAATTTTAATTGGGAT GTAGAAAAAG ()/E ORF38/primase S30 2972* 33968 30 TCCAAGTTATTTGAGGAGTTATTAAGACAT GAAGAAATAT ()/E ORF43/unknown S31 2972 30803 30 TACCGAAACGACTGGTTTGAAAAATTCAAG GAAGAAAATC ()/E ORF38/primase S32 2972* 33044 30 ATTGTCTATTACGACAACATGGAAGATGAT GTAGAAATTT ()/E ORF41/unknown S33 858 30335 30 CTTCAAATGTACTGCAAGGCTGCAAAAGTA CCAGAAAATA ()/E ORF38/unknown S34 DT1 14535 30 GCTACTGAAAGCTACGAGGTTGGTAATCCT AAAGAATGGG ()/L ORF17/tail protein S35 DT1 13255 30 GTAGTTAGAGCGCTTGAAGCTAACGGTATA GAACCAAACA ()/L ORF15/tail protein S36 DT1 29132 30 TTAGATCTCATGAGTGGCGACAGTGAGCTT GTAGAATTAC ()/E ORF36/primase S37 DT1 20837 30 AACGATGAGGAACTCTTGGCAAAACTTACA CAAGAATAGC ()/L ORF22/unknown S38 DT1 9893 30 GCATTCATGGTTTGTTGGTATTTAACGTAT TCGGAACTGG (–)/L ORF15/tail protein S39 DT1 2603 30 TATTTTATCAGTCATCATGGCGTCATAGCC GAAGAAAACG (–)/M ORF4/Large terminase a *, DNA regions that are 100% identical between phages 858 and 2972. b That is, the 5 position of the proto-spacer in the phage genome. c Underlined and italicized nucleotides indicate a mismatch between the phage and the spacer. An asterisk indicates a deletion. d That is, the 3 flanking sequence in the phage genome. A mismatch in the AGAAW motif is boldfaced. e Transcription module: E, early expressed genes; M, middle expressed genes; L, late expressed genes. 1396 DEVEAU ET AL. J. BACTERIOL. proach, 20 phage mutants that infect S. thermophilus BIMs DGCC7710858 S3 (7 mutants of 2972), DGCC77102972 S4 (4 mutants of 2972), DGCC77102972 S6 (4 mutants of 2972), DGCC77102972 S4858S32 (4 mutants of 858), and DGCC77102972 S62972.S6BS20 (1 mutant of 2972) were fur- ther characterized (Fig. 2). All of the phage mutants had the same restriction profiles as the wild-type phages (data not shown). The proto-spacers, as well as their flanking regions (approximately 100 pb upstream and downstream), were se- quenced in the mutants. Four distinct types of mutations were observed in these mutants: (i) a single-nucleotide mutation directly within the proto-spacer (8 of 20 mutant phages), (ii) a two-nucleotide mutation directly in the proto-spacer (3 of 20 mutant phages), (iii) a single nucleotide mutation in the AGAA flanking sequence (7 of 20 mutant phages), and (iv) a deletion in the proto-spacer (2 of 20 mutant phages). In 14 cases where a nucleotide mutation occurred, the de- duced amino acid was changed. These mutations had appar- ently no effect (besides enabling infection of the BIM) on the completion of the phage lytic cycle. In 6 other cases, the amino acid was not changed, but this silent mutation generated a change of codon. Again, these mutations did not prevent the FIG. 3. Schematic representation of the S. thermophilus bacteriophage genomes used in the present study. (A) Distribution of the sequences corresponding to the new spacers in the three phage genomes. The spacers above the genome correspond to the positive strand, while those indicated in lower part correspond to the negative strand. Spacers indicated by an asterisk contain one mismatch with the phage sequence. ORFs connected by a gray box possess more than 70% identity at the amino acid level. (B) Distribution of the AGAAW motif on both strands for the three phages. VOL. 190, 2008 CRISPR-ENCODED RESISTANCE IN S. THERMOPHILUS 1397 TABLE 6. ORFs deduced from the genome of S. thermophilus phage 858 and their predicted functions ORF Start Stop Size (aa)a Mass (kDa) pI Putative ribosome-binding site and start codon (AAAGGAGGTGA) Best matchesb (% amino acid identity) Sizec (aa) Putative function 1 319 525 68 8.1 10.5 Not identified ATG gp68 phage Sfi11 67/68 (98) 68 2 414 827 137 16.2 8.7 CAGAGAGGTTAgtaca ATG ORF1 phage 2972 137/137 (100) 137 3 1009 1461 150 16.8 6.7 AAAATATTTGCggatgaatac TTG ORF2 phage 2972 145/150 (96) 150 Terminase small subunit 4 1448 2119 223 25.3 9.0 AAAGGAGCTGTaagcg ATG ORF3 phage 2972 223/223 (100) 223 Terminase large subunit 5 2412 2999 195 22.7 4.8 AGAGCCCTTGCgataacaaata ATG ORF4 phage 2972 194/195 (99) 195 Terminase large subunit 6 3008 4513 501 57.6 5.0 GTAGGAGGAATg ATG ORF5 phage 2972 501/501 (100) 501 Portal protein 7 4510 5403 297 34.4 8.8 TTGAGAGGGAAtatga ATG ORF6 phage 2972 294/297 (98) 297 Capsid protein 8 5591 6172 193 21.3 4.8 TAGATAGGAGAaata ATG ORF7 phage 2972 193/193 (100) 193 Scaffold protein 9 6192 6551 119 12.8 8.8 AAAGGAAATTTtaa ATG ORF8 phage 2972 115/119 (96) 119 Capsid protein 10 6570 7616 348 37.5 4.9 AGAGGAGGAACattaaaac ATG ORF9 phage 2972 346/348 (99) 348 Capsid protein 11 7628 7789 53 6.0 9.3 TTAAGAGGTACtgat ATG ORF10 phage 2972 52/53 (98) 53 12 7801 8142 113 13.0 4.6 TAGTGAGGTATggc ATG ORF11 phage 2972 113/113 (100) 113 13 8139 8453 104 11.5 9.5 AAAGAGGGAGAggtgttatttct ATG ORF12 phage 2972 104/104 (100) 104 14 8455 8793 112 12.5 8.9 CAAGGTGGTGAaataac ATG ORF13 phage 2972 112/112 (100) 112 15 8795 9181 128 14.6 5.0 AATGGCTAAGTgggaataag ATG ORF14 phage 2972 127/128 (99) 128 16 9195 9704 169 18.5 4.8 TCAGGAGGAAAaa ATG ORF15 phage 2972 168/169 (99) 168 Tail protein 17 9782 10135 117 13.2 4.7 ATAGGAGTTAAaaaca ATG gp117 phage Sfi11 101/117 (86) 117 18 10186 10503 105 12.6 9.9 CGAGGAATTAAtcactaatgct ATG ORF17 phage 2972 104/105 (99) 105 19 10493 15046 1517 153.4 9.6 AGAGGGGCTTGctag ATG ORF18 phage 2972 1511/1517(99) 1517 Tail protein 20 15046 16581 511 57.7 5.3 ATGAGAGGTATtaaata ATG ORF19 phage 2972 508/511 (99) 511 21 16581 21434 1617 178.5 5.3 ATTTGAGGAGAgatatatata ATG ORF20 phage 2972 1599/1617(98) 1605 Receptor-binding protein 22 21435 23456 673 74.2 5.7 GTAGGAGGTTTttaa TTG ORF21 phage 2972 659/673 (97) 673 Structural protein 23 23473 23859 128 14.6 4.7 AAGAAAGGAAAaatat ATG ORF22 phage 2972 126/128 (98) 128 24 23885 24028 47 5.5 6.6 TTAGGAGGAAGaaca ATG ORF23 phage 2972 47/47 (100) 47 25 23991 24278 95 11.0 8.7 CAAGAGCTTGTaggcttgtctc ATG T. parva 22/87 (25) 497 26 24275 24409 44 5.0 10.7 AAGCGAGGTTGataa ATG S. pyogenes MGAS5005 19/35 (54) 61 27 24437 24691 84 9.3 9.5 GAAACTTGAGAgg ATG ORF87 phage Sfi21 68/79 (86) 87 Holin 28 24693 25295 200 21.8 4.5 TAAGGAAGGAAaatagt ATG ORF25 phage DT1 180/200 (90) 200 Endolysin 29 25341 25463 40 4.6 8.8 AAACAAAGCGGtgtc ATG ORF27 phage 2972 40/40 (100) 40 30 25502 26263 253 30.0 9.7 AAAGATGGTGTcataag ATG Phage J1 248/253 (98) 253 Endonuclease 31 26325 26552 75 8.6 3.9 AATCCCGGTTAca ATG Phage J1 70/75 (93) 186 Endolysin 32 26720 26851 43 5.3 8.9 AAACGAGGTGAaaaca ATG ORF30 phage 2972 43/43 (100) 43 33 26952 27161 69 7.9 7.9 AAAGGAGAACTta ATG ORF31 phage 2972 68/69 (98) 69 Cro-like repressor 34 27178 27300 40 5.0 8.0 AAAGGTATTTAaa ATG ORF32 phage 2972 40/40 (100) 40 35 27557 28030 157 18.1 6.2 TAGGGAGGGTAggaattaaat ATG ORF33 phage 2972 157/157 (100) 157 36 28027 28728 233 26.2 6.6 AAAGGAGAAACcttaacataag ATG ORF34 phage 2972 233/233 (100) 233 37 28685 30097 470 54.2 8.6 AAAGGGGTGTAaggtag ATG ORF35 phage 2972 309/473 (65) 445 Helicase 38 30104 30577 157 18.2 4.8 AGATTTGGAGAtaaaaaaac ATG S. suis 89/1591 110/157 (70) 156 39 30582 31397 271 30.7 7.8 Not identified ATG S. suis 89/1591 180/263 (68) 268 40 31366 32910 514 60.0 8.0 AAAGGAGTTAGatactaaac ATG S. suis 89/1591 363/508 (71) 517 Primase 41 33167 33487 106 12.1 9.9 AAAGAAAGGCAactttcaa GTG ORF39 phage 2972 102/106 (96) 106 42 33698 33871 57 6.6 8.1 GAAAGAGATGAtagaact ATG ORF17 phage O1205 44/57 (77) 57 43 33868 34023 51 6.3 5.6 GTAGGAGATTAgtagagtt ATG ORF41 phage 2972 51/51 (100) 51 44 34024 34536 170 19.6 6.3 TGAGGTGGAATag ATG ORF42 phage 2972 170/170 (100) 170 DNA-binding protein 45 34505 34831 108 12.1 9.2 ATAGGAAAGGAaagatggtaa ATG ORF43 phage 2972 108/108 (100) 108 46 34835 35542 235 27.7 9.1 TGAGGAGTTATtaagac ATG ORF44 phage 2972 234/235 (99) 235 a That is, the number of amino acids (aa) of the predicted protein. b If the host species is not mentioned, the phage infects a S. thermophilus strain. c That is, the size in amino acids (aa) of the best-matched protein. 1398 DEVEAU ET AL. J. BACTERIOL. phage to complete the infection process. In mutant phages 858.S32C and 2972.S6D, 75-nucleotide and 1-nucleotide dele- tions, respectively, occurred. The 75-nucleotide deletion in phage 858.S32C targeted the end of ORF42 and the beginning of ORF43 of phage 858 (Table 6). No putative function could be assigned to either ORF42 (57 amino acids) or ORF43 (51 amino acids) (Table 6). Interestingly, the deletion led to the formation of an ORF42-ORF43 fusion product, but no func- tion could be assigned to the deduced fusion protein (83 amino acids). Phage mutant 2972.S6D had a one-base deletion, which led to a frameshift and, consequently, the presence of several stop codons in the ORF44 sequence for which no putative function could been assigned (Table 6). Taken altogether, these data confirm that a newly added spacer must be identical to the proto-spacer to be fully effective and that the CRISPR1-specific sequence (NNAGAAW) is also important for the phage resistance phenotype. DISCUSSION The remarkable diversity and metabolic capabilities of bac- teria allow them to grow and prosper in every ecosystem where life forms have been found (18). Similarly, bacteriophages are present in these same ecosystems, including manufactured eco- logical niches such as food fermentation vats. It is now believed that phages represent the most abundant biological entities on the planet (7). Thus, it is not surprising to observe that bacteria have devised a number of strategies to defend against these prolific invaders. CRISPRs and their associated cas genes con- stitute the latest defense mechanism unveiled in prokaryotes (2). In the present study, we show that CRISPR-mediated phage resistance is indeed a novel antiphage system since its general mode of action is distinct from the previously known systems. Our results also demonstrate that CRISPR-mediated phage resistance protects S. thermophilus against the two main groups of phage known to infect this bacterial species. Thus, this antiphage system is exceptionally broad and effective. This wide-ranging efficacy against phages is in agreement with the fact that CRISPRs have been found in a wide range of bacte- rial genomes (19, 22, 30). The isolation and characterization of BIMs obtained through iterative phage challenges have revealed that one spacer will typically be added to the CRISPR1 locus. However, multiple spacers can also be acquired by CRISPR1, providing enhanced resistance to phages. The iterative addition of spac- ers is particularly interesting and separates the CRISPR-me- diated phage resistance from other natural antiphage defense systems. With the other four systems (adsorption inhibition, DNA ejection inhibition, restriction-modification systems, and Abi), it is not possible to generate new phage-resistant deriv- atives (when phage mutants have emerged) without any fitness cost to the host at each generation. In contrast, CRISPR- mediated phage resistance allows the acquisition of a new spacer specific to the phage mutants without an obvious fitness cost associated with it. Thus, it is possible to create multiresis- tant S. thermophilus strains by successive challenges using dif- ferent phages. Because new spacers were almost always inserted at the leader end of the CRISPR1 locus, it is tempting to hypothesize that spacer position could serve as a memory of previous phage encounters by a strain. Although this may be true for many BIMs, spacer deletion did occur in some of the BIMs. Thus, this presumed historical perspective, albeit interesting, may be of limited value in some cases. Similarly, the reason for the prevalence of new spacer acquisitions at the leader end of the repeat arrays is unknown, although a putative role of the leader could explain this phenomenon. Nonetheless, it is worth mentioning that when spacer deletion was observed in a BIM, a new spacer always occurred in the vicinity of the deleted region. It is possible that the spacer deletion occurs by homol- ogous recombination between CRISPR direct repeats. A key feature in CRISPR-mediated phage resistance is that the newly acquired spacer (between 29 and 31 nucleotides in size) must be identical to the phage genomic sequence to provide resistance. Only 2 of the newly acquired spacers (of 39) described here were not identical (one mismatch) to a known phage sequence. However, these two spacers were found in BIMs that had acquired more than one spacer, and the other associated spacers had a perfect match to a phage genomic sequence. Moreover, most of the analyzed phage mutants that were able to infect these BIMs had a mutation in the proto- spacer. Interestingly, 7 of the 20 mutated phages analyzed had no mutation in the proto-spacer but had a mutation in the AGAA flanking sequence. This sequence appears to play a critical role in CRISPR1-mediated phage resistance in S. ther- mophilus because a mutation within this sequence allows the phage to escape the CRISPR1-mediated resistance. This strongly suggests that CRISPR1 and/or the cas-associated pro- teins may be involved in a nucleotide recognition mechanism. The importance of the NNAGAAW motif was recently con- firmed by their presence in proto-spacer region corresponding to the CRISPR1 spacers from several different S. thermophilus strains (22). All of the phage genomic sequences matching the acquired spacers in the S. thermophilus BIMs were found in a coding region, and the coding strand was three times more frequently targeted. We believe that the frequency of the NNAGAAW motif in the phage genome (2.9 on the coding strand for 1 on the noncoding strand) is responsible for this bias. In addition, early transcribed modules of the phage genome appear to be more frequently targeted for the acquisition of new CRISPR1 spacers. It has been previously hypothesized that CRISPR may play a role in an RNA interference system (30). Thus, it is tempting to speculate that the early transcribed phage mRNAs would be a preferential target for a mechanism such as RNA interference. Rapidly silencing the phage infection may allow the cell to recover thereby, increasing cell survival. The acquisition of a spacer from a coding sequence also suggests that the targeted gene is important for phage devel- opment. However, this observation is debatable as most of the phage genome (89.6% for DT1 and 93.8% for 2972) is coding. Furthermore, phage mutants were still able to propagate effi- ciently despite the apparent gene inactivation. As indicated above, it is possible that the CRISPR-mediated resistance somehow targets the mRNA. Knowing that many S. thermophi- lus phage genes are transcribed as part of a polycistronic mRNA (26, 42), inactivating larger transcripts may prevent the translation of essential phage proteins. In conclusion, the CRISPR/cas system clearly represents a VOL. 190, 2008 CRISPR-ENCODED RESISTANCE IN S. THERMOPHILUS 1399 novel and interesting avenue for the development of phage- resistant bacterial strains for fermentation and biotechnologi- cal processes. Moreover, because of the widespread distribu- tion of phages in various ecosystems, CRISPRs likely play a significant role in prokaryotic evolution and ecology (2). The identification of a nucleotide motif in the phage genome that is important for the phage resistance phenotype is another clue toward the elucidation of the molecular mode of action of the CRISPR1 mechanism. 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# 噬菌体对嗜热链球菌CRISPR编码抗性的响应

**《细菌学杂志》,2008年2月,第1390–1400页** **第190卷,第4期** **0021-9193/08/$08.00+0** **doi:10.1128/JB.01412-07** **版权所有 © 2008,美国微生物学会。保留所有权利。**

**噬菌体对嗜热链球菌CRISPR编码抗性的响应**

Hélène Deveau¹, Rodolphe Barrangou², Josiane E. Garneau¹, Jessica Labonté¹, Christophe Fremaux³, Patrick Boyaval³, Dennis A. Romero², Philippe Horvath³, Sylvain Moineau¹*

¹ 加拿大魁北克省魁北克市拉瓦尔大学,生物化学与微生物学系,口腔生态学研究组,牙医学院,费利克斯·德赫雷尔细菌病毒参考中心,G1V 0A6 ² 丹尼斯科美国公司,3329 Agriculture Drive, Madison, Wisconsin 53716 ³ 丹尼斯科法国公司,BP10, F-86220 Dange-Saint-Romain, France

**收稿日期:2007年8月31日 / 接受日期:2007年11月21日**

成簇规律间隔短回文重复序列(CRISPR)及其相关基因与一种获得性抗噬菌体机制有关。细菌可以将源自噬菌体的短序列片段(间隔序列)整合到CRISPR位点中,从而获得噬菌体抗性。在本研究中,我们进一步表征了CRISPR1作为嗜热链球菌(*Streptococcus thermophilus*)噬菌体抗性机制的效率。首先,我们证明CRISPR1不同于已知的噬菌体防御系统,并且对嗜热链球菌的两类主要噬菌体均有效。对30个嗜热链球菌噬菌体不敏感突变株的分析表明,在CRISPR1中新增一个间隔序列是噬菌体攻击后最常见的结果,而间隔序列的迭代添加可提高宿主整体的抗噬菌体能力。新增的间隔序列大小在29至31个核苷酸之间,其中30个核苷酸的最为常见。将39个新获得的间隔序列与野生型噬菌体2972、858和DT1的完整基因组序列进行比较分析表明,新添加的间隔序列必须与噬菌体基因组中的某个区域(称为原间隔序列)完全相同,才能赋予噬菌体抗性表型。此外,我们在原间隔序列区域下游发现了一个CRISPR1特异性序列(NNAGAAW),该序列对噬菌体抗性表型具有重要意义。最后,通过对20个突变噬菌体的分析,我们证明烈性噬菌体通过单核苷酸突变以及缺失快速进化,以应对CRISPR1。

嗜热链球菌是最重要的工业乳酸菌之一,因其被广泛用于酸奶和多种奶酪的生产。这种低G+C含量的革兰氏阳性菌的多个菌株被用于大规模牛奶发酵,因为每个菌株都具有自身独特的特性,适合生产一系列各具独特感官特性的发酵食品。在乳制品加工中持续使用相同的嗜热链球菌菌株,受到了烈性噬菌体普遍存在的阻碍。因此,近年来嗜热链球菌噬菌体一直是广泛研究的主题,目的是防止其增殖(8, 12)。

嗜热链球菌噬菌体与其宿主一样具有相当的同源性,因为它们都属于一个包含温和噬菌体和烈性噬菌体的多型种(9, 13)。嗜热链球菌噬菌体在形态上与大肠杆菌λ噬菌体相似,因而属于长尾噬菌体科(Siphoviridae)。嗜热链球菌噬菌体目前根据其DNA包装方式(cos或pac)及其结构蛋白质组成分为两类(27)。目前已有7个嗜热链球菌噬菌体的完整基因组序列公开,包括cos型噬菌体DT1、Sfi19、Sfi21和7201,以及pac型噬菌体O1205、Sfi11和2972(28)。

近年来,关于噬菌体-宿主相互作用的信息显著增加。众所周知,细菌拥有多种机制来抵御多样化的噬菌体群体(10)。传统上,乳酸菌的天然噬菌体防御系统分为四大类,即抑制噬菌体吸附、抑制DNA注入、限制-修饰系统和流产感染(Abi)系统(10, 24)。总体而言,这些机制已在乳酸乳球菌(*Lactococcus lactis*)和大肠杆菌(*Escherichia coli*)中被广泛研究(10)。遗憾的是,在嗜热链球菌中发现的天然噬菌体抗性机制很少(35)。为了应对烈性噬菌体和已知防御机制的缺乏,乳制品行业已开发出快速分离嗜热链球菌噬菌体不敏感突变株(BIM)的方案(39)。这些BIM是自发的、天然存在的噬菌体抗性后代,能够在暴露于烈体噬菌体后存活。直到最近,这种抗性机制通常被归因于噬菌体受体的突变(2, 15)。

目前已有三株嗜热链球菌宿主菌株的完整基因组序列(4, 11, 31)。对这些密切相关的嗜热链球菌菌株的比较分析表明,遗传多态性主要发生在少数高变区,包括三个CRISPR位点(4, 5, 22, 31)。这些CRISPR位点已在多种细菌基因组中被发现(19, 23, 30)。它们由21至48 bp的DNA直接重复序列组成,其间穿插着相似长度的非重复间隔序列。直接重复序列高度保守,而间隔序列的数量和序列在同一物种的不同菌株之间也存在差异。间隔序列与染色体外元件(如噬菌体和质粒)之间的序列相似性,使得人们提出假说:CRISPR位点以及CRISPR相关基因(cas)在保护细胞免受外源DNA入侵方面发挥作用(5, 20, 30, 36, 37)。事实上,最近的研究已经证明CRISPR1/cas在嗜热链球菌中提供了对烈性噬菌体的抗性(2)。

我们近期利用嗜热链球菌菌株DGCC7710以及烈性pac型噬菌体2972和858,证明了CRISPR在BIM形成中的作用(2)。具体而言,我们发现,在受到噬菌体858和/或2972攻击后,嗜热链球菌DGCC7710会整合源自噬菌体基因组的新间隔序列,从而产生噬菌体抗性表型。抗性的特异性由间隔序列与噬菌体序列之间的同一性决定(2)。虽然新间隔序列的插入提供了显著的噬菌体抗性,但仍有少量噬菌体能够感染BIM。这表明CRISPR位点和噬菌体基因组区域都经历了快速的进化变化(2)。

在本研究中,我们更详细地研究了其中一个CRISPR位点(CRISPR1)在嗜热链球菌噬菌体-宿主相互作用中的作用。首先,我们证明这种噬菌体抗性机制是独特的,因为它与任何已知的天然原核生物抗病毒屏障均不对应。此外,我们分析了来自另一株嗜热链球菌SMQ-301的BIM(40),并证明其CRISPR1位点可以对cos型嗜热链球菌噬菌体提供抗性。最后,对噬菌体基因组中同源间隔序列区域(我们建议将其命名为原间隔序列)进行了分析,以研究感染BIM的噬菌体突变体。其中一些噬菌体通过在原间隔序列区域发生单核苷酸突变或缺失,直接对CRISPR1做出响应。有趣的是,在其他噬菌体突变体中,在噬菌体基因组中原间隔序列下游两个核苷酸处的一个短区域(AGAA)中发现了单核苷酸突变。

**材料与方法**

**细菌菌株、噬菌体和微生物学检测。** 嗜热链球菌宿主菌株及其BIM衍生物(表1和表2)在添加0.5%乳糖的M17肉汤(LM17)中于42°C培养。噬菌体在添加10 mM氯化钙的LM17中增殖。高滴度噬菌体裂解液的制备如前所述(28)。噬斑形成效率(EOP)通过将BIM上获得的噬斑滴度除以在敏感宿主菌株上获得的滴度来确定。噬菌体吸附检测如前所述进行(16)。细胞存活率检测(3)采用感染复数(MOI)为5的条件。对于感染中心形成效率(ECOI)实验,将处于指数生长期的细胞(即600 nm处光密度为0.6)用MOI为5的条件感染。噬菌体首先被允许吸附15分钟,然后通过快速离心去除未结合的噬菌体。将感染的细胞沉淀用新鲜LM17肉汤洗涤两次。ECOI形成率通过将抗性感染细胞上获得的噬斑滴度除以敏感感染菌株上获得的滴度来计算。一步生长曲线(32)采用MOI为0.2的条件进行。裂解量通过将上升期后的平均滴度除以细菌开始释放病毒粒子前的平均滴度来确定。对于每项微生物学检测,均从三次独立实验中计算平均值和标准差。

**BIM的分离。** 通过用烈性噬菌体2972(28)、858(28)或DT1(40)或突变噬菌体(见下文)攻击敏感的嗜热链球菌菌株来获得BIM。还通过以1:1的比例用噬菌体2972和858的混合物攻击嗜热链球菌菌株来获得BIM。简言之,将100 μl嗜热链球菌过夜培养物接种到10 ml LM17中,在42°C下培养至600 nm处光密度达到0.3。然后分别以10⁷ PFU/ml和10 mM的最终浓度加入噬菌体和氯化钙。将含噬菌体的培养物在42°C下孵育24小时并监测裂解情况。然后将100 μl裂解培养物接种到10 ml新鲜LM17中。将剩余裂解液离心,将沉淀转移到另一管含有10 ml LM17肉汤的试管中。将这两种培养物在42°C下孵育16小时,进行系列稀释(1/10),并涂布在LM17上。首先通过斑点试验(33)评估分离的BIM的噬菌体敏感性。

**突变噬菌体的分离与鉴定。** 所有突变噬菌体均经三次单噬斑纯化,并按前述方法增殖(34)。从四个BIM中分离并分析了20个轮廓清晰的噬斑。单个噬菌体在其被分离的BIM上增殖,并以亲本野生型噬菌体的名称后跟宿主菌株中新的间隔序列编号来命名。添加不同的字母以区分每个不同的噬菌体突变体。如前所述,从1 ml噬菌体裂解液中分离噬菌体DNA(34)。限制性内切核酸酶(Roche Diagnostics)按制造商推荐的方法使用。必要时,将限制性噬菌体DNA样品在70°C加热10分钟以防止黏性末端连接。DNA片段在1×TAE缓冲液中的0.8%琼脂糖凝胶上分离,用溴化乙锭染色后在紫外线下观察。

**噬菌体858基因组DNA测序。** 烈性噬菌体858的基因组DNA使用Qiagen Lambda Maxi试剂盒分离,并进行了前述修改(14)。使用此前用于对密切相关的噬菌体2972基因组测序的引物(28),以分离的噬菌体DNA为模板,开始对噬菌体858的基因组进行测序。根据核苷酸序列设计新引物,并通过对两条DNA链进行引物步移来完成基因组测序。测序工作在拉瓦尔大学医院中心基因组平台上使用ABI Prism 3700完成。

使用ORF Finder(http://www.ncbi.nlm.nih.gov/gorf/gorf.html)和GeneMark.hmm(http://opal.biology.gatech.edu/GeneMark/gmhmm2_prok.cgi)进行DNA序列搜索(29)。PSI-BLAST和Advanced BLAST Search 2.1也用于序列比较(http://www.ncbi.nlm.nih.gov/BLAST)(1)。仅展示最佳匹配结果。

**嗜热链球菌菌株CRISPR1位点及噬菌体基因组中原间隔序列区域的测序。** 从PCR产物对BIM的CRISPR1位点(包括重复序列和间隔序列)以及噬菌体基因组中的原间隔序列区域进行测序。总细菌DNA的制备如前所述(21)。使用Staden Package(38)(http://staden.sourceforge.net/)、CLUSTALW(http://www.ebi.ac.uk/clustalw/)和DNA Display(http://www.mrgtech.ca/DNA)对CRISPR位点进行计算机辅助DNA分析。

**核苷酸序列登录号。** 本研究中分析的野生型噬菌体的完整基因组序列可通过以下GenBank登录号获得:DT1(AF085222)、2972(AY699705)和858(EF529515)。

**结果**

**噬菌体抗性系统的表征。** 噬菌体抗性机制通常通过一系列微生物学检测来表征,以确定其一般作用模式。选择野生型烈性噬菌体2972、噬菌体敏感菌株嗜热链球菌DGCC7710以及此前分离的嗜热链球菌BIM DGCC7710←858→S3、DGCC7710←2972→S4和DGCC7710←2972→S4←858→S32(2)用于这些检测(表1和图1)。菌株DGCC7710←858→S3和DGCC7710←2972→S4是DGCC7710的BIM衍生物,在噬菌体攻击后分别在各自的CRISPR1位点中获得了一个新的间隔序列,而DGCC7710←2972→S4←858→S32是第一代BIM DGCC7710←2972→S4衍生的第二代BIM,因此在第二次噬菌体攻击后获得了第二个间隔序列。

噬菌体吸附检测表明,噬菌体2972对噬菌体敏感和噬菌体抗性菌株的吸附水平相同(90%)(表3),表明CRISPR1中新间隔序列的添加并未阻止噬菌体吸附。通过添加源自噬菌体基因组的新间隔序列分离第二代CRISPR BIM,排除了这种防御机制阻止噬菌体DNA注入细胞的可能性。排除限制-修饰系统的依据是:从DGCC7710←858→S3或DGCC7710←2972→S4中分离出了噬菌体2972的两个突变体(频率为10⁻⁵),它们在其各自的BIM宿主和野生型DGCC7710上均以相同的效率(EOP ≥ 1.0)增殖,即使在传代通过DGCC7710后也是如此(数据未显示)。Abi机制的一个特征是噬菌体感染流产后细胞死亡率很高(10)。细胞存活率检测表明,64%至73%的噬菌体抗性嗜热链球菌菌株在噬菌体感染后存活(表3),表明CRISPR1不是Abi机制(10)。有趣的是,一些被感染的细胞仍然释放病毒粒子(表3)。然而,裂解量显著降低,从每个敏感宿主细胞(DGCC7710)产生190个新噬菌体,降至产生6至28个新病毒粒子,具体取决于被感染的BIM菌株(表3)。值得注意的是,敏感菌株和第一代BIM中的噬菌体潜伏期相似(在42°C下为39至44分钟),但在第二代BIM中更长(表3)。综合这些结果表明,CRISPR1确实是一种新型噬菌体抗性系统。

**间隔序列的迭代添加。** 已有研究表明,CRISPR1位点中新间隔序列的添加可以提高特定菌株的噬菌体抗性(2)。然而,仍有少量噬菌体发生复制(表3)。也有报道称,仅在一次噬菌体攻击后随机获得多个间隔序列(最多4个)可导致噬菌体抗性增强(2)。我们想确定连续的噬菌体攻击及随后的间隔序列迭代添加是否能够带来更强的噬菌体保护。

在这些实验中,我们使用了对烈性噬菌体2972或烈性噬菌体858仍然敏感的嗜热链球菌DGCC7710衍生物。我们选择了在用噬菌体2972攻击后获得的嗜热链球菌DGCC7710←2972→S4(但对858仍敏感)和在用噬菌体858攻击后获得的嗜热链球菌DGCC7710←858→S1S2(但对2972仍敏感)(2)。两种BIM均用适当的烈性噬菌体感染(DGCC7710←2972→S4用858感染,DGCC7710←858→S1S2用2972感染),采用前述的BIM分离程序。对于每次攻击,均获得了数个新的BIM,并选择其中三个进行进一步表征。在所有情况下,在CRISPR1位点的先导端均获得了一个或两个新的间隔序列(表1),从而对第二种噬菌体产生了抗性(表4)。有趣的是,在菌株DGCC7710←2972→S4←858→S32中,随着与噬菌体2972相同的第二个间隔序列的添加,噬菌体2972的EOP降低,表明累积间隔序列可以提高宿主整体的抗噬菌体能力(表4)。

此外,嗜热链球菌DGCC7710←2972→S6是一种对两种野生型噬菌体2972和858均具有抗性的BIM(表1),用突变噬菌体(2972.S6B,图2)对其进行攻击,该突变噬菌体由于其基因组中S6靶向区域的单核苷酸突变而能够绕过CRISPR1介导的抗性(见下文)。获得了三个对噬菌体2972.S6B具有抗性的新BIM,并分析了其CRISPR1位点。这些第二代BIM同样在其CRISPR1的先导端获得了一个新的独特间隔序列(表1)。随后,用另一种噬菌体突变体(2972.S20A)攻击第二代BIM(DGCC7710←2972→S6←2972.S6B→S20),产生了一组第三代BIM。获得了七个不同的第三代BIM,每个都在CRISPR1的先导端获得了一个或两个新的间隔序列(表1和图1B)。综合这些数据清楚地表明,间隔序列的迭代添加是可行的,可提高这些同基因嗜热链球菌菌株的噬菌体抗性。这也证实了CRISPR位点和噬菌体都在快速响应彼此的变化。

**另一噬菌体-宿主系统中CRISPR1的分析。** 到目前为止(见上文及参考文献2),对嗜热链球菌CRISPR1的研究是在单一宿主和两种噬菌体上进行的,即嗜热链球菌DGCC7710和烈性pac型噬菌体2972和858(及其噬菌体突变体)。为了确定上述主要结论是否适用于另一个嗜热链球菌噬菌体-宿主系统,我们用烈性cos型噬菌体DT1(40)攻击嗜热链球菌SMQ-301并分离了BIM,DT1是嗜热链球菌中表征最充分的cos型噬菌体之一(15, 16, 17, 26)。对野生型噬菌体敏感菌株嗜热链球菌SMQ-301的CRISPR1位点分析显示,其存在16个独特的间隔序列,数量仅为DGCC7710的一半。值得注意的是,SMQ-301中的间隔序列与DGCC7710中的不同(22)。此前有报道称,来自嗜热链球菌SMQ-301的BIM...

# 翻译

(2.4 ± 1.3)× 10⁻⁷

DGCC7710-858 ΔS1S2

0

1

0.67 ± 0.45

(9.3 ± 9.3)× 10⁻⁶

DGCC7710-858 ΔS1S2-2972 ΔS19

1

1

(3.1 ± 1.7)× 10⁻⁴

(1.6 ± 1.3)× 10⁻⁶

a 结果为三次独立实验的平均值。

图2. 野生型和突变噬菌体中对应嗜热链球菌菌株新获得间隔序列的核苷酸序列。AGAA基序以灰色高亮显示。每个突变以粗体和下划线标示。*,缺失。

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《细菌学杂志》

嗜热链球菌SMQ-301的噬菌体抗性突变体(BIM)较难获得(15);然而,利用本文中改进的实验方案,获得了四株对DT1具有抗性的BIM并进行了分析(表2和图1C)。在所有情况下,CRISPR1位点中均插入了1至3个来源于DT1基因组的额外间隔序列(表5和图3)。这些发现证实,CRISPR介导的噬菌体抗性可以保护嗜热链球菌抵御两大类主要噬菌体的代表株,并且其作用机制是通用的。

**嗜热链球菌BIM中CRISPR1位点新获得间隔序列的分析。** 对26株来源于嗜热链球菌DGCC7710菌株的BIM(包括本研究和先前报道[2]所产生的)以及4株来源于嗜热链球菌SMQ-301的BIM的间隔序列组成进行了分析(表1和图1)。在分析的30株BIM中,21株获得了1个新间隔序列,7株获得了2个新间隔序列,1株获得了3个新间隔序列,1株获得了4个新间隔序列。因此,在CRISPR1中添加单个新间隔序列似乎是噬菌体攻击后的常见结果。

DGCC7710中原有的32个间隔序列在除一株第一代BIM外的所有BIM中均得以保留,该例外菌株为嗜热链球菌DGCC7710-2972 ΔS15。有趣的是,该BIM在先导端获得了一个新间隔序列,但丢失了野生型嗜热链球菌DGCC7710中存在的前17个间隔序列。此外,SMQ-301的四株BIM中有两株也丢失了7个原有间隔序列(间隔序列4至10),表明间隔序列的缺失可能与新间隔序列的添加同时发生(表2和图1C)。

所有30株分析的BIM均在CRISPR1的先导端获得了至少一个新间隔序列。令人意外的是,在SMQ-301的两株BIM中,在第三个原有间隔序列之后也添加了第二个新间隔序列。值得注意的是,这两株BIM也正是丢失了7个原有间隔序列的菌株。因此,新间隔序列的添加明显偏向于CRISPR1位点的一端,而在CRISPR1内部获得新间隔序列也是可能的,尽管较为罕见。

来源于嗜热链球菌DGCC7710的26株BIM在受到烈性噬菌体2972或858攻击后共获得了33个新间隔序列。此外,嗜热链球菌SMQ-301的四株BIM在受到噬菌体DT1攻击后获得了6个不同的间隔序列。对这39个新间隔序列的分析表明,其中32个长度为30个核苷酸(表5)。5个间隔序列长度为29个核苷酸,其余2个间隔序列长度为31个核苷酸。显然,添加长度为30个核苷酸的间隔序列是最常见的事件,这与绝大多数CRISPR1间隔序列长度为30 bp的观察结果一致(22)。

**39个新间隔序列与三种嗜热链球菌噬菌体基因组的比较。** 为了将新获得的间隔序列与相应攻击实验中使用的噬菌体基因组区域进行比较,对烈性噬菌体858的全基因组进行了测序(表6)。噬菌体2972和DT1的基因组此前已经测定(28, 40)。噬菌体858基因组的注释见表6。正如预期,它与嗜热链球菌的其他pac型噬菌体高度相关(28)。858和2972噬菌体基因组共享90.9%的核苷酸一致性。简而言之,其线性双链DNA含有35,543 bp,总体G+C含量为39.8%。噬菌体858的46个预测开放阅读框(ORF)中,仅有5个在其他嗜热链球菌噬菌体中没有密切同源物。事实上,其中三个(ORF38、ORF39和ORF40)与猪链球菌89/1591基因组中推导出的ORF更为接近。

利用噬菌体858、2972和DT1的完整基因组序列,我们对30株嗜热链球菌BIM中新添加的39个间隔序列进行了比较分析。39个间隔序列中有37个的核苷酸序列与至少一种用于攻击实验的野生型噬菌体基因组中某一特定区域100%相同(表5和图3A)。间隔序列S2和S26与原间隔序列存在一个错配(表5)。然而,含有这两个错配间隔序列的BIM还获得了其他与噬菌体基因组区域完全相同的间隔序列。

对噬菌体基因组的进一步分析表明,本研究中分析的所有39个新间隔序列均对应于一个预测的编码区。此外,间隔序列覆盖了所有噬菌体模块以及两条链。然而,新间隔序列更多来源于编码链而非非编码链(39个间隔序列中有28个来自编码链[71.7%]),其中约一半位于噬菌体基因组的早期表达区域(39个间隔序列中有22个[56.4%]),尽管该区域仅占噬菌体基因组的27%至31%(17)(表5和图3A)。

有趣的是,某些间隔序列(S30、S36和S37)被两株BIM菌株独立获得(表1)。

**噬菌体基因组中原间隔序列侧翼区域的比较分析** 导致在紧接原间隔序列下游两个核苷酸(NN)处鉴定出一个特定序列(表5)。该CRISPR1特异性序列对应于最近描述的基序(22)。事实上,39个原间隔序列中有34个具有3'侧翼AGAAW基序。其余5个原间隔序列(对应间隔序列S2、S11、S13、S35和S38)在AGAAW基序中存在一个错配核苷酸。然而,这5个间隔序列存在于在噬菌体攻击后获得多个间隔序列的BIM中。为确定上述链和时序表达偏差是否可由AGAAW基序的存在来解释,分析了该保守序列在三种噬菌体2972、858和DT1基因组中的分布(图3B)。AGAAW基序在编码链上出现的频率几乎是非编码链上的三倍,三种嗜热链球菌噬菌体的平均值分别为编码链上5.0个AGAAW/kb和非编码链上1.7个AGAAW/kb。这些结果表明,间隔序列的获取可能并非随机,且可被纳入CRISPR1的原间隔序列数量可能有限。另一方面,这些基序中有36%至40%位于早期表达模块中,而56.4%的获得间隔序列对应于该区域。因此,不同转录模块中AGAAW基序的比例不能完全解释所观察到的对早期表达区域的偏向。

**噬菌体对新间隔序列获得的响应。** 如别处所述(2),在实验室条件下可以分离到能够感染新生成的BIM的噬菌体突变体。通过抗性系统的选择压力获得的噬菌体突变体的鉴定特别有用,因为它此前曾促进了对新型噬菌体防御机制的更好理解(6, 25, 41)。采用类似的方法,对20株能够感染嗜热链球菌BIM的噬菌体突变体进行了进一步鉴定:DGCC7710-858 ΔS3(2972的7个突变体)、DGCC7710-2972 ΔS4(2972的4个突变体)、DGCC7710-2972 ΔS6(2972的4个突变体)、DGCC7710-2972 ΔS4-858 ΔS32(858的4个突变体)和DGCC7710-2972 ΔS6-2972.S6B ΔS20(2972的1个突变体)(图2)。所有噬菌体突变体的限制性酶切图谱与野生型噬菌体相同(数据未显示)。对突变体中原间隔序列及其侧翼区域(上下游约100 bp)进行了测序。在这些突变体中观察到四种不同类型的突变:(i)原间隔序列内单核苷酸突变(20个突变噬菌体中的8个),(ii)原间隔序列内核苷酸双突变(20个中的3个),(iii)AGAA侧翼序列中单核苷酸突变(20个中的7个),以及(iv)原间隔序列中的缺失(20个中的2个)。

在发生核苷酸突变的14个案例中,推导的氨基酸发生了改变。这些突变显然不影响噬菌体裂解周期的完成(除了能够感染BIM之外)。在其他6个案例中,氨基酸未发生改变,但同义突变导致了密码子变化。同样,这些突变并未阻止噬菌体完成感染过程。在突变噬菌体858.S32C和2972.S6D中,分别发生了75个核苷酸和1个核苷酸的缺失。噬菌体858.S32C中的75个核苷酸缺失靶向858噬菌体ORF42的末端和ORF43的起始(表6)。ORF42(57个氨基酸)和ORF43(51个氨基酸)均未推定出可能的功能(表6)。有趣的是,该缺失导致了ORF42-ORF43融合产物的形成,但推导出的融合蛋白(83个氨基酸)也未推定出功能。噬菌体突变体2972.S6D发生了一个碱基缺失,导致移码,从而在ORF44序列中出现多个终止密码子,该ORF未推定出可能的功能(表6)。

综合以上数据证实,新添加的间隔序列必须与原间隔序列完全相同才能充分发挥效力,且CRISPR1特异性序列(NNAGAAW)对于噬菌体抗性表型也很重要。

**讨论**

细菌非凡的多样性和代谢能力使其能够在发现生命形式的每一个生态系统中生长和繁衍(18)。同样,噬菌体也存在于这些生态系统中,包括食品发酵罐等人工生态位。目前认为,噬菌体是地球上最丰富的生物实体(7)。因此,细菌进化出多种策略来抵御这些大量入侵者也就不足为奇了。CRISPR及其相关cas基因构成了在原核生物中最新揭示的防御机制(2)。

在本研究中,我们表明CRISPR介导的噬菌体抗性确实是一种新型的抗噬菌体系统,因为其一般作用模式不同于先前已知的系统。我们的结果还证明,CRISPR介导的噬菌体抗性可以保护嗜热链球菌抵御已知感染该细菌物种的两大类主要噬菌体。因此,该抗噬菌体系统具有异常广泛和高效的抗噬菌体能力。这种广泛的噬菌体抗性与CRISPR在多种细菌基因组中被发现的事实一致(19, 22, 30)。

通过反复噬菌体攻击获得并鉴定的BIM的分离和表征表明,通常会有一个间隔序列被添加到CRISPR1位点。然而,CRISPR1也可以获得多个间隔序列,从而提供增强的噬菌体抗性。间隔序列的反复添加特别有趣,并将CRISPR介导的噬菌体抗性与其他天然抗噬菌体防御系统区分开来。对于其他四种系统(吸附抑制、DNA注入抑制、限制-修饰系统和Abi),在每一代中都会对宿主产生适应性代价,而无法产生新的噬菌体抗性衍生株(当噬菌体突变体出现时)。相比之下,CRISPR介导的噬菌体抗性允许获得对噬菌体突变体特异的新间隔序列,且没有明显的适应性代价。因此,可以通过使用不同噬菌体的连续攻击来创建多重抗性的嗜热链球菌菌株。

由于新间隔序列几乎总是在CRISPR1位点的先导端插入,因此有理由推测间隔序列的位置可以作为菌株先前遭遇噬菌体的记忆。尽管这对许多BIM而言可能是正确的,但在某些BIM中确实发生了间隔序列的缺失。因此,这种假定的历史视角虽然有趣,但在某些情况下可能价值有限。类似地,新间隔序列获取在重复阵列先导端占优势的原因尚不清楚,尽管先导序列的可能作用可以解释这一现象。尽管如此,值得指出的是,当在BIM中观察到间隔序列缺失时,在缺失区域附近总是会出现一个新间隔序列。间隔序列的缺失可能是通过CRISPR直接重复序列之间的同源重组发生的。

CRISPR介导的噬菌体抗性的一个关键特征是,新获得的间隔序列(大小在29至31个核苷酸之间)必须与噬菌体基因组序列完全相同才能提供抗性。本文描述的39个新获得间隔序列中,仅有2个与已知噬菌体序列不完全相同(一个错配)。然而,这两个间隔序列存在于获得多于一个间隔序列的BIM中,而其他相关间隔序列与噬菌体基因组序列完全匹配。此外,分析的大多数能够感染这些BIM的噬菌体突变体在原间隔序列中存在突变。有趣的是,分析的20个突变噬菌体中有7个在原间隔序列中没有突变,但在AGAA侧翼序列中存在突变。该序列似乎在嗜热链球菌CRISPR1介导的噬菌体抗性中起关键作用,因为该序列内的突变使噬菌体能够逃避CRISPR1介导的抗性。这强烈表明,CRISPR1和/或cas相关蛋白可能参与了核苷酸识别机制。

NNAGAAW基序的重要性最近通过其在对应于几种不同嗜热链球菌菌株CRISPR1间隔序列的原间隔序列区域中的存在而得到证实(22)。

嗜热链球菌BIM中获得的间隔序列所匹配的所有噬菌体基因组序列均位于编码区,且编码链被靶向的频率是非编码链的三倍。我们认为,NNAGAAW基序在噬菌体基因组中的频率(编码链上每1个对应非编码链上2.9个)是造成这种偏向的原因。此外,噬菌体基因组的早期转录模块似乎更频繁地被靶向用于新CRISPR1间隔序列的获取。此前有假设认为CRISPR可能在RNA干扰系统中发挥作用(30)。因此,早期转录的噬菌体mRNA可能是RNA干扰等机制的优先靶标。快速沉默噬菌体感染可能使细胞得以恢复,从而提高细胞存活率。

从编码序列获取间隔序列也表明靶基因对噬菌体发育很重要。然而,这一观点尚有争议,因为噬菌体基因组的大部分(DT1为89.6%,2972为93.8%)是编码区。此外,尽管存在明显的基因失活,噬菌体突变体仍能有效增殖。如上所述,CRISPR介导的抗性可能以某种方式靶向mRNA。鉴于许多嗜热链球菌噬菌体基因作为多顺反子mRNA的一部分被转录(26, 42),使较大的转录本失活可能阻止必需噬菌体蛋白的翻译。

总之,CRISPR/cas系统显然代表了开发用于发酵和生物技术过程的噬菌体抗性细菌菌株的一条新颖且有前景的途径。此外,由于噬菌体在各类生态系统中的广泛分布,CRISPR可能在原核生物的进化和生态中发挥重要作用(2)。在噬菌体基因组中鉴定出对噬菌体抗性表型重要的核苷酸基序,是阐明CRISPR1机制分子作用模式的另一条线索。

**致谢**

我们感谢Denise Tremblay、Simon Labrie和Julie Samson的启发性讨论;感谢Yanick Bourgeau的DNA展示概念设计;感谢Gene Bourgeau的编辑协助。

S.M.感谢加拿大自然科学与工程学研究委员会通过其发现计划提供的支持。

**参考文献**

(参考文献列表保持原样,此处省略翻译)