期刊
GENETICS
卷 183, 期 1, 页码 23-30出版社
GENETICS SOCIETY AMERICA
DOI: 10.1534/genetics.109.104695
关键词
-
Polyalanine expansion diseases are proposed to result from unequal crossover of sister chromatids that increases the number of repeats. In this report we suggest an alternative mechanism we put forward while we investigated a new spontaneous mutant that we named Dyc for Digit in Y and Carpe phenotype. Phenotypic analysis revealed all abnormal limb patterning similar to that of the human inherited congenital disease synpolydactyly (SPD) and to the mouse mutant model Spdh. Both human SPD and mouse Spdh mutations affect: the Hoxd13 gene within a 15-residue polyalanine-encoding repeat ill the first exon of the gene, leading to a dominant negative HOXD13. Genetic analysis of the Dyc mutant revealed a trinucleotide expansion in the polyalanine-encoding region of the Hoxd13 gene resulting in a 7-alanine expansion. However, unlike the Spdh mutation, this expansion cannot result from a simple duplication of a short: segment. Instead, the propose the fork stalling and template switching (FosTeS) described for generation of nonrecurrent genomic rearrangements as it possible mechanism for the Dyc polyalanine extension, as well as for other polyalanine expansions described in the literature and that could not be explained by unequal crossing over.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据