Cis-acting regulatory variation in the human genome

被引：207

作者：

Pastinen, T

Hudson, TJ

机构：

[1] McGill Univ, Montreal, PQ H3A 1A4, Canada

[2] Genome Quebec Innovat Ctr, Montreal, PQ H3A 1A4, Canada

来源：

SCIENCE | 2004年 / 306卷 / 5696期

关键词：

D O I：

10.1126/science.1101659

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The systematic screening of the human genome for genetic variants that affect gene regulation should advance our fundamental understanding of phenotypic diversity and lead to the identification of alleles that modify disease risk. There are several challenges in localizing regulatory polymorphisms, including the wide spectrum of cis-acting regulatory mechanisms, the inconsistent effects of regulatory variants in different tissues, and the difficulty in isolating the causal variants that are in linkage disequilibrium with many other variants. We discuss the current state of knowledge and technologies used for mapping and characterizing genetic variation controlling human gene expression.

引用

页码：647 / 650

页数：4

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