共 19 条
Cis-acting variation in the expression of a high proportion of genes in human brain
被引:184
作者:

Bray, NJ
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机构:
Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales

Buckland, PR
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机构:
Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales

Owen, MJ
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机构:
Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales

O'Donovan, MC
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机构:
Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales
机构:
[1] Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales
基金:
英国医学研究理事会;
关键词:
D O I:
10.1007/s00439-003-0956-y
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Much of the genetic component of human phenotypic diversity, including susceptibility to disease, is proposed to be the result of cis-acting influences on gene expression. If this hypothesis is correct, it implies that cis-acting regulatory variation is a common phenomenon. However, direct evidence in support of this view is scarce. We have applied highly quantitative measures of allele-specific expression in order to screen an average of 19 informative subjects (range 8-26) for the presence of common cis-acting influences on the expression of 15 genes by using RNA derived from human brain. We found that, in seven of the 15 assayed genes, at least one individual exhibited relative differences in allelic expression of 20% or more and, in one gene (DTNBP1), allelic expression differences exceeded 50%. These results suggest that cis-acting variation in gene expression commonly occurs in native tissue and hence provide empirical support for the hypothesis that this is potentially an important mechanism underlying human phenotypic diversity.
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页码:149 / 153
页数:5
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机构: MIT, Whitehead Inst, Ctr Genome Res, Cambridge, MA 02139 USA

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机构: MIT, Whitehead Inst, Ctr Genome Res, Cambridge, MA 02139 USA

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;
Mondabon, S
;
Hallmayer, J
;
Borrmann-Hassenbach, M
;
Albus, M
;
Lerer, B
;
Rietschel, M
;
Trixler, M
;
Maier, W
;
Wildenauer, DB
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2003, 72 (01)
:185-190

Schwab, SG
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Knapp, M
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Mondabon, S
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Hallmayer, J
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Borrmann-Hassenbach, M
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Albus, M
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Lerer, B
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Rietschel, M
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Trixler, M
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Maier, W
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany

Wildenauer, DB
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机构: Univ Bonn, Dept Psychiat, Mol Genet Lab, D-53111 Bonn, Germany