Genome architecture, rearrangements and genomic disorders

被引：669

作者：

Stankiewicz, P ^{[1
]}

Lupski, JR ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

TRENDS IN GENETICS | 2002年 / 18卷 / 02期

关键词：

D O I：

10.1016/S0168-9525(02)02592-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An increasing number of human diseases are recognized to result from recurrent DNA rearrangements involving unstable genomic regions. These are termed genomic disorders, in which the clinical phenotype is a consequence of abnormal dosage of gene(s) located within the rearranged genomic fragments. Both inter- and intrachromosomal rearrangements are facilitated by the presence of region-specific low-copy repeats (LCRs) and result from nonallelic homologous recombination (NAHR) between paralogous genomic segments. LCRs usually span similar to10-400 kb of genomic DNA, share greater than or equal to97% sequence identity, and provide the substrates for homologous recombination, thus predisposing the region to rearrangements. Moreover, it has been suggested that higher order genomic architecture involving LCRs plays a significant role in karyotypic evolution accompanying primate speciation.

引用

页码：74 / 82

页数：9

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