多效性、外显性和数量性状的遗传结构

IF 39.1 1区 生物学 Q1 GENETICS & HEREDITY Nature Reviews Genetics Pub Date : 2024-04-02 DOI:10.1038/s41576-024-00711-3
Trudy F. C. Mackay, Robert R. H. Anholt
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引用次数: 0

摘要

多效性(一种遗传多态性影响多种性状)和表观性(遗传多态性之间的非线性相互作用影响同一性状)是数量性状遗传结构的基本方面。近来,人类和模式生物种群中多态变异对分子和生物表型影响的表征能力不断进步,揭示了多效性的普遍性以及包括疾病在内的数量性状之间意想不到的共同分子遗传基础。相比之下,在模式生物中,与数量性状相关的多态性位点之间普遍存在表观性,即一个位点上的等位基因在不同的遗传背景下具有不同的效应,但在人类数量性状和常见疾病中却很少观察到这种表观性。在此,我们回顾了有关多效性和表观性的概念和最新推论,并讨论了导致模式生物和人类数量性状遗传结构异同的因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Pleiotropy, epistasis and the genetic architecture of quantitative traits
Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis (whereby non-linear interactions between genetic polymorphisms affect the same trait) are fundamental aspects of the genetic architecture of quantitative traits. Recent advances in the ability to characterize the effects of polymorphic variants on molecular and organismal phenotypes in human and model organism populations have revealed the prevalence of pleiotropy and unexpected shared molecular genetic bases among quantitative traits, including diseases. By contrast, epistasis is common between polymorphic loci associated with quantitative traits in model organisms, such that alleles at one locus have different effects in different genetic backgrounds, but is rarely observed for human quantitative traits and common diseases. Here, we review the concepts and recent inferences about pleiotropy and epistasis, and discuss factors that contribute to similarities and differences between the genetic architecture of quantitative traits in model organisms and humans. In this Review, Mackay and Anholt discuss how epistasis and pleiotropy contribute to the genetic architecture of quantitative traits and outline factors that might explain observed differences in their prevalence between model organisms and humans.
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来源期刊
Nature Reviews Genetics
Nature Reviews Genetics 生物-遗传学
CiteScore
57.40
自引率
0.50%
发文量
113
审稿时长
6-12 weeks
期刊介绍: At Nature Reviews Genetics, our goal is to be the leading source of reviews and commentaries for the scientific communities we serve. We are dedicated to publishing authoritative articles that are easily accessible to our readers. We believe in enhancing our articles with clear and understandable figures, tables, and other display items. Our aim is to provide an unparalleled service to authors, referees, and readers, and we are committed to maximizing the usefulness and impact of each article we publish. Within our journal, we publish a range of content including Research Highlights, Comments, Reviews, and Perspectives that are relevant to geneticists and genomicists. With our broad scope, we ensure that the articles we publish reach the widest possible audience. As part of the Nature Reviews portfolio of journals, we strive to uphold the high standards and reputation associated with this esteemed collection of publications.
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