Jakubowski J, Kornfeld K
Department of Molecular Biology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Genetics. 1999 Oct;153(2):743-52. doi: 10.1093/genetics/153.2.743.
Ras-mediated signaling is required for induction of vulval cell fates during Caenorhabditis elegans development. By screening for suppressors of the multivulva phenotype caused by constitutively active let-60 ras, we identified the mutation n2527. To clone the gene affected by n2527, we developed a method for high-resolution mapping. We took advantage of the genomic DNA sequence of the N2 strain by using DNA sequencing to scan for single-nucleotide polymorphisms (SNPs) at defined genomic positions of the RC301 strain. An average of one polymorphism per 1.4 kb was detected in predicted intergenic regions. Because of this high frequency, DNA sequencing is an efficient method to scan for SNPs. By alternating between identifying SNPs and mapping n2527 using selected recombinants, we generated an SNP map of progressively higher density. An intensive search for SNPs resulted in a local map with an average marker spacing of approximately 4 kb. This was used to map n2527 to a 9.6-kb interval. The small size of this interval made it feasible to use DNA sequencing to identify the molecular lesion. In principle, this approach can be used for high-resolution mapping of any C. elegans mutation. Furthermore, this approach can be applied to other species as the genomic sequence becomes available. The n2527 mutation affects a previously uncharacterized gene that we named cdf-1, as it encodes a predicted protein with significant similarity to members of the cation diffusion facilitator family.
在秀丽隐杆线虫发育过程中,Ras介导的信号传导对于诱导外阴细胞命运是必需的。通过筛选由组成型激活的let-60 ras引起的多外阴表型的抑制因子,我们鉴定出了n2527突变。为了克隆受n2527影响的基因,我们开发了一种高分辨率定位方法。我们利用N2菌株的基因组DNA序列,通过DNA测序在RC301菌株的特定基因组位置扫描单核苷酸多态性(SNP)。在预测的基因间区域平均每1.4 kb检测到一个多态性。由于这种高频率,DNA测序是扫描SNP的有效方法。通过交替识别SNP和使用选定的重组体定位n2527,我们生成了密度逐渐增加的SNP图谱。对SNP的深入搜索产生了一个局部图谱,平均标记间距约为4 kb。这被用于将n2527定位到一个9.6 kb的区间。这个区间的小尺寸使得使用DNA测序来识别分子损伤变得可行。原则上,这种方法可用于任何秀丽隐杆线虫突变的高分辨率定位。此外,随着基因组序列的可得,这种方法可以应用于其他物种。n2527突变影响一个以前未表征的基因,我们将其命名为cdf-1,因为它编码一种预测的蛋白质,与阳离子扩散促进剂家族的成员有显著相似性。