Epistatic interactions: how strong in disease and evolution?

被引：27

作者：

Azevedo, Luisa

Suriano, Gianpaolo

van Asch, Barbara

Harding, Rosalind M.

Amorim, Antonio

机构：

[1] IPATIMUP, P-4200465 Oporto, Portugal

[2] Univ Oxford, Dept Zool, Oxford OX1 3TG, England

[3] Univ Oxford, Dept Stat, Oxford OX1 3TG, England

[4] Univ Porto, Fac Sci, P-4099002 Oporto, Portugal

来源：

TRENDS IN GENETICS | 2006年 / 22卷 / 11期

关键词：

D O I：

10.1016/j.tig.2006.08.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

When the chimpanzee genome sequence was released, human deleterious alleles associated with simple mendelian diseases were observed as wild-type alleles in six genes (AIRE, MKKS, MLH1, MYOC, OTC and PRSS1). The absence of recognizable phenotypic effects in chimpanzee, contrary to the clinical effect observed in humans, is attributed to epistatic interactions (compensation) between potentially deleterious and compensatory alleles. In this report we investigate the possible evolutionary histories by which substitution of alternative variants in these six genes either ameliorates or avoids pathological consequences.

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页码：581 / 585

页数：5

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