Duplication and distribution of repetitive elements and non-unique regions in the human genome

被引:20
作者
Mazzarella, R [1 ]
Schlessinger, D [1 ]
机构
[1] Washington Univ, Sch Med, Dept Mol Microbiol, St Louis, MO 63110 USA
关键词
X chromosome; Alu; L1; repetitive elements; duplication;
D O I
10.1016/S0378-1119(97)00477-0
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Genome mapping efforts and the initial sequencing of large segments of human DNA permit ongoing assessment of the patterns and extent of sequence duplication and divergence in the human genome. Initial sequence data indicate that the most highly repetitive sequences show isochore-related enrichment and clustering produced by successive insertional recombination and local duplication of particular repetitive elements. Regional duplication is also observed for a number of otherwise unique genomic sequences and thereby makes these segments become repetitive. The consequences of these duplication events are: (1) clustering of related genes, along with a variety of coregulatory mechanisms; and (2) recombinations between the nearby homologous sequences, which can delete genes in individuals and account for a significant fraction of human genetic disease. (C) 1997 Elsevier Science B.V.
引用
收藏
页码:29 / 38
页数:10
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