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科学家揭示性别差异对不同人体组织基因表达的影响
作者：小柯机器人 发布时间：2020/9/12 15:23:00

美国芝加哥大学Barbara E. Stranger、Meritxell Oliva等研究人员合作揭示性别对不同人类组织中基因表达的影响。相关论文发表在2020年9月11日出版的《科学》杂志上。

研究人员通过基因型组织表达计划（GTEx，v8）调查了44个人类组织来源的基因表达以及基因表达的遗传调控中的性别差异。研究人员证明性别影响整个人体组织样本的基因表达水平和细胞组成。总共37％的基因在至少一个组织中表现出性别偏向的表达。
 
研究人员确定了具有性别差异作用的顺式表达定量性状基因座（eQTL），并表征了其细胞起源。通过将性别偏倚的eQTL与全基因组关联研究数据进行整合，研究人员确定了58个基因-性状关联，这些关联是由单性别中基因表达的遗传调控驱动的。这些发现提供了人类转录组中性别差异及其遗传调控的广泛表征。
 
据了解，许多复杂的人类表型表现出性别差异的特征。然而，这些差异背后的分子机制仍是未知之数。
 
附：英文原文

Title: The impact of sex on gene expression across human tissues

Author: Meritxell Oliva, Manuel Muoz-Aguirre, Sarah Kim-Hellmuth, Valentin Wucher, Ariel D. H. Gewirtz, Daniel J. Cotter, Princy Parsana, Silva Kasela, Brunilda Balliu, Ana Viuela, Stephane E. Castel, Pejman Mohammadi, Franois Aguet, Yuxin Zou, Ekaterina A. Khramtsova, Andrew D. Skol, Diego Garrido-Martín, Ferran Reverter, Andrew Brown, Patrick Evans, Eric R. Gamazon, Anthony Payne, Rodrigo Bonazzola, Alvaro N. Barbeira, Andrew R. Hamel, Angel Martinez-Perez, José Manuel Soria, GTEx Consortium§, Brandon L. Pierce, Matthew Stephens, Eleazar Eskin, Emmanouil T. Dermitzakis, Ayellet V. Segrè, Hae Kyung Im, Barbara E. Engelhardt, Kristin G. Ardlie, Stephen B. Montgomery, Alexis J. Battle, Tuuli Lappalainen, Roderic Guigó, Barbara E. Stranger

Issue&Volume: 2020/09/11

Abstract: Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.

DOI: 10.1126/science.aba3066

Source: https://science.sciencemag.org/content/369/6509/eaba3066

期刊信息
Science：《科学》，创刊于1880年。隶属于美国科学促进会，最新IF：41.037