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首页> 外文期刊>BMC research notes >The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g
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The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g

机译：小鼠11号染色体上的羊毛状突变（wly）与Fam83g的遗传缺陷有关

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Background Mice homozygous for the spontaneous wooly mutation (abbreviated wly ) are recognized as early as 3–4 weeks of age by the rough or matted appearance of their coats. Previous genetic analysis has placed wly in a 5.9 Mb interval on Chromosome 11 that contains over 200 known genes. Assignment of wly to one of these genes is needed in order to provide probes that would ultimately facilitate a complete molecular analysis of that gene’s role in the normal and disrupted development of the mammalian integument. Results Here, a large intraspecific backcross family was used to genetically map wly to a smaller (0.8 Mb) span on mouse Chromosome 11 that includes fewer than 20 genes. DNA sequencing of the coding regions in two of these candidates known to be expressed in skin has revealed a 955 bp, wly -specific deletion. This deletion, which lies within the coordinates of both Slc5a10 [for solute carrier family 5 (sodium/glucose cotransporter), member 10] and Fam83g (for family with sequence similarity 83, member G), alters the splicing of mutant Fam83g transcripts only, and is predicted to result in a severely truncated (probably non-functional) protein product. Conclusion We suggest that this mutation in Fam83g is the likely basis of the mouse wooly phenotype.
机译：背景自发的羊毛突变（纯属wly）纯合的小鼠早在3-4周龄时就被其皮毛粗糙或杂乱的外观所识别。先前的基因分析已在11号染色体上以5.9 Mb的间隔间隔，其中包含200多个已知基因。需要为这些基因之一指定wly，以提供探针，从而最终促进对该基因在哺乳动物被膜的正常和破坏发育中的作用的完整分子分析。结果在这里，一个大的种内回交家族被用来遗传地映射到小鼠染色体11的较小跨度（0.8 Mb），该染色体包含少于20个基因。在已知在皮肤中表达的这些候选物中的两个候选物中的编码区的DNA测序显示了955 bp的wly特异性缺失。该缺失位于Slc5a10 [对于溶质载体家族5（钠/葡萄糖共转运蛋白），成员10]和Fam83g（对于具有序列相似性83的家族，成员G）的坐标内，仅改变了突变Fam83g转录物的剪接，并且预计会导致严重的截断（可能是无功能的）蛋白质产品。结论我们认为Fam83g的这种突变可能是小鼠毛状表型的基础。

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