The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g.
The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g.
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DOI：
10.1186/1756-0500-6-189
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发表时间：
2013-05-09
影响因子：
1.8
通讯作者：
King, Thomas R
中科院分区：
文献类型：
--
作者：
Radden, Legairre A 2nd;Child, Kevin M;King, Thomas R
背景技术背景：自发性多毛突变（缩写wly）的纯合子小鼠早在3-4周龄时就可以通过毛色粗糙或粗糙的外观识别出来。先前的遗传分析已经将wly定位在11号染色体上的5.9 Mb区间内，其中包含200多个已知基因。分配的wly这些基因之一是必要的，以提供探针，最终将促进一个完整的分子分析，该基因的作用，在正常和中断的发展的哺乳动物integument.RESULTS：在这里，一个大的种内回交家庭被用来遗传映射wly到一个较小的（0.8 Mb）跨度上的小鼠染色体11，其中包括少于20个基因。已知在皮肤中表达的这些候选物中的两个的编码区的DNA测序揭示了955 bp的wly特异性缺失。该删除位于Slc 5a 10 [溶质载体家族5]的坐标内，（钠/葡萄糖协同转运蛋白），成员10]和Fam 83 g（对于具有序列相似性的家族83，成员G），仅改变突变体Fam 83 g转录物的剪接，并且预测会导致严重截短的Fam 83 g转录物。结论：Fam 83 g的突变可能是小鼠羊毛样表型的基础。
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.