Length variation of CAG/CAA triplet repeats in 50 genes among 16 inbred mouse strains
Length variation of CAG/CAA triplet repeats in 50 genes among 16 inbred mouse strains
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DOI：
10.1016/j.gene.2004.11.050
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发表时间：
2005-04-11
期刊：
影响因子：
3.5
通讯作者：
Koide, T
中科院分区：
文献类型：
--
作者：
Ogasawara, M;Imanishi, T;Koide, T
编码多谷氨酸的CAG重复序列已经被许多研究小组研究过，因为重复长度的变化会导致蛋白质功能和疾病结局的差异。在这项研究中，我们系统地在公共数据库中搜索携带CAG重复序列的基因。对于所获得的基因，我们实验分析了16个近交系小鼠品系(包括野生品系和实验室品系)62个基因座上重复序列的长度和纯度的变化。我们发现50%的基因座长度是保守的，特别是在野生来源的菌株中。在496个多态重复等位基因中，78%为非CAG密码子未中断，22%为非CAG密码子中断。中断往往发生在更长的重复中，所有长度超过23的重复都被中断。虽然中断可以抑制CAG重复序列的扩展，但我们发现，中断的发生取决于CAG重复序列的长度。此外，这项研究中检测到的大多数多谷氨酸存在于人类同源基因中，反映了蛋白质中多谷氨酸的功能意义。(C)2004爱思唯尔B.V.保留所有权利。
CAG repeats coding for poly-glutamines have been studied by many groups as repeat length variations contributes to differences in protein function and disease outcome. In this study, we systematically searched public databases for genes carrying CAG repeats. For the genes obtained, we experimentally analyzed variations of length and the purity of the repeats in 62 loci among 16 inbred mouse strains, including wild-derived and laboratory strains. We found that length was conserved in 50% of the loci, especially among wild-derived strains. Of 496 polymorphic repeat alleles, 78% were uninterrupted and 22% were interrupted with non-CAG codons. Interruptions tended to occur in longer repeats and all repeats of greater length than 23 were interrupted. Although interruptions can act as suppressors for the expansion of CAG repeats, we found that the occurrence of the interruptions depended on the length of the CAG repeats. Furthermore, most poly-glutamines examined in this study existed in human orthologous genes, reflecting the functional significance of poly-glutamines in proteins. (c) 2004 Elsevier B.V. All rights reserved.