A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.
A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.
复制标题
人类 15q 染色体着丝粒周围区域的一个大的多态性重复包含三个部分基因重复。
DOI：
10.1093/hmg/7.8.1253
复制
发表时间：
1998
影响因子：
3.5
通讯作者：
Lalande,M
中科院分区：
文献类型：
--
作者：
Ritchie,RJ;Mattei,MG;Lalande,M
我们报告的GABRA 5，在印记15 q11-q13区域内的基因的部分重复的鉴定。重复的基因座映射到15 q的近端与Angelman和Prader-Willi综合征相关的大缺失区域。我们还观察到不同个体中该基因座的拷贝数的变化，表明重复是可变重复的一部分。对具有正常核型的个体中的重复的调查揭示了每条15号染色体上的重复的1至4个拷贝，而在具有15 q区域的细胞遗传学可检测的延长的个体中发现了8至20个拷贝。可变区的大小约为1 Mb，并含有两个其他未加工的重复，免疫球蛋白重链（IgH）D段基因和1型神经纤维瘤病（NF 1）基因。因此，着丝粒周围重复序列的一个单元由来自不同染色体区域的基因的重复组成。此外，我们还发现GABRA 5重复中的复制异常，这首次表明染色体15 q的印记部分延伸到Angelman和Prader-Willi综合征中通常缺失的区域的近端。
We report the identification of a partial duplication ofGABRA5, a gene within the imprinted 15q11–q13 region. The duplicated locus maps to the pericentromeic region of 15q, proximal to the large deletions associated with Angelman and Prader-Willi syndromes. We also observed variation in the number of copies of this locus in different individuals, indicating that the duplication is part of a variable repeat. Investigation of the duplication in individuals with a normal karyotype revealed between one and four copies of the repeat on each chromosome 15, whereas from eight to 20 copies were found in individuals possessing a cytogenetically detectable elongation of the 15q region. The variable region is roughly 1 Mb in size and contains two other non-processed duplications, the immunoglobulin heavy chain (IgH) D segment gene and the neurofibromatosis type 1 (NF1) gene. One unit of the pericentromeric repeat is thus composed of duplications of genes from different chromosomal regions. Moreover, we have found replication asynchrony across theGABRA5duplication, suggesting for the first time that the imprinted part of chromosome 15q extends proximal of the region commonly deleted in Angelman and Prader-Willi syndromes.