Forche Anja, Magee P T, Magee B B, May Georgiana
Department Genetics, Cell Biology, Development, University of Minnesota, Minneapolis, MN 55455, USA.
Eukaryot Cell. 2004 Jun;3(3):705-14. doi: 10.1128/EC.3.3.705-714.2004.
Single-nucleotide polymorphisms (SNPs) are essential tools for studying a variety of organismal properties and processes, such as recombination, chromosomal dynamics, and genome rearrangement. This paper describes the development of a genome-wide SNP map for Candida albicans to study mitotic recombination and chromosome loss. C. albicans is a diploid yeast which propagates primarily by clonal mitotic division. It is the leading fungal pathogen that causes infections in humans, ranging from mild superficial lesions in healthy individuals to severe, life-threatening diseases in patients with suppressed immune systems. The SNP map contains 150 marker sequences comprising 561 SNPs and 9 insertions-deletions. Of the 561 SNPs, 437 were transition events while 126 were transversion events, yielding a transition-to-transversion ratio of 3:1, as expected for a neutral accumulation of mutations. The average SNP frequency for our data set was 1 SNP per 83 bp. The map has one marker placed every 111 kb, on average, across the 16-Mb genome. For marker sequences located partially or completely within coding regions, most contained one or more nonsynonymous substitutions. Using the SNP markers, we identified a loss of heterozygosity over large chromosomal fragments in strains of C. albicans that are frequently used for gene manipulation experiments. The SNP map will be useful for understanding the role of heterozygosity and genome rearrangement in the response of C. albicans to host environments.
单核苷酸多态性(SNPs)是研究多种生物体特性和过程的重要工具,如重组、染色体动态变化和基因组重排。本文描述了白色念珠菌全基因组SNP图谱的构建,用于研究有丝分裂重组和染色体丢失。白色念珠菌是一种二倍体酵母,主要通过无性有丝分裂进行繁殖。它是导致人类感染的主要真菌病原体,感染范围从健康个体的轻度浅表损伤到免疫系统受抑制患者的严重、危及生命的疾病。该SNP图谱包含150个标记序列,由561个SNP和9个插入缺失组成。在561个SNP中,437个是转换事件,126个是颠换事件,转换与颠换的比例为3:1,这与突变的中性积累预期一致。我们数据集的平均SNP频率为每83个碱基对中有1个SNP。该图谱在16兆碱基的基因组上平均每111千碱基放置一个标记。对于部分或完全位于编码区域内的标记序列,大多数包含一个或多个非同义替换。利用SNP标记,我们在常用于基因操作实验的白色念珠菌菌株中鉴定出大片染色体片段上的杂合性缺失。该SNP图谱将有助于理解杂合性和基因组重排在白色念珠菌对宿主环境反应中的作用。