Koltsov Institute of Developmental Biology, Russian Academy of Sciences, 119334, Moscow, Russia.
Dokl Biol Sci. 2021 Mar;497(1):59-61. doi: 10.1134/S0012496621020010. Epub 2021 May 4.
The waved alopecia (wal) mutation arose spontaneously in mice. Phenotypically, the wal mutation in a homozygous recessive state is manifested by a wavy coat. Over time, partial baldness develops, which leads to a thinning of the coat in mice. The molecular nature of the genetic defect in wal is still unknown; however, the coordinates of the chromosome locus in which the wal gene is located, a section of about 10 bp in length, has been determined in mouse chromosome 14. We examined the wal locus by sequencing the exons of candidate genes in which the mutation was expected, and performed genome-wide sequencing to identify the cause of the wal mutation. The sequences of exons of candidate genes located in this region did not carry changes that could lead to a change in the structure of the protein. However, outside the wal zone, a mutation in the Slc9a9 gene was found that is probably not associated with the wal phenotype. According to the literature, a mutation in the Slc9a9 gene leads to autism spectrum disorders. This is the first discovered spontaneous mutation in the Slc9a9 gene in mice.
波浪形脱发 (wal) 突变在小鼠中自发出现。表型上，wal 突变在纯合隐性状态下表现为波浪形被毛。随着时间的推移，部分秃顶会发展，导致小鼠的被毛变薄。wal 基因突变的分子性质尚不清楚；然而，wal 基因所在的染色体基因座的坐标，即大约 10bp 长的一段，已经在小鼠 14 号染色体上确定。我们通过对预期发生突变的候选基因的外显子进行测序来检查 wal 基因座，并进行全基因组测序以确定 wal 突变的原因。位于该区域的候选基因的外显子序列没有携带可能导致蛋白质结构改变的变化。然而，在 wal 区域之外，发现了 Slc9a9 基因的突变，该突变可能与 wal 表型无关。根据文献，Slc9a9 基因突变会导致自闭症谱系障碍。这是在小鼠中首次发现的 Slc9a9 基因自发突变。
