A 3-Mb map of a large segmental duplication overlapping the α7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14

被引：98

作者：

Riley, B

Williamson, M

Collier, D

Wilkie, H

Makoff, A

机构：

[1] Inst Psychiat, Div Psychol Med, London SE5 8AF, England

[2] Inst Psychiat, Social Genet Dev & Psychiat Res Ctr, London SE5 8AF, England

[3] UCL, Sch Med, Dept Paediat, London WC1E 6JJ, England

来源：

GENOMICS | 2002年 / 79卷 / 02期

基金：

英国医学研究理事会;

关键词：

RAGE; duplication; inversion; deletion; chromosome; 15; CHRNA7; acetylcholine receptor; nicotinic; schizophrenia; epilepsy;

D O I：

10.1006/geno.2002.6694

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Several neuropsychiatric disorders map to human 15q13-q14, which contains a strong candidate in the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7) and is partly duplicated, complicating further genetic analysis. We have shown that the partial duplication is in a hybrid (CHRFAM7A) between CHRNA7 and one of many copies of a novel gene (FAM7A). We have constructed a 3-Mb map of 15q13-q14 showing that CHRFAM7A is part of a large segmental duplication in the opposite orientation to CHRNA7 and revealing several other duplications. The data support a model of recent evolutionary events including duplications, at least one large deletion, and an inversion. We have identified two individuals with a structure that lacks CHRFAM7A and therefore predates many steps in this model, suggesting an unstable region with other intermediates possibly still in existence. This instability may be relevant to the many neuropsychiatric disorders that map in this region.

引用

页码：197 / 209

页数：13

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