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全基因组关联和牛的表达数量性状位点揭示了调控哺乳动物生育能力的共同基因。

Genome-wide association and expression quantitative trait loci in cattle reveals common genes regulating mammalian fertility.

机构信息

Queensland Alliance for Agriculture and Food Innovation, The University of Queensland, St Lucia, QLD, Australia.

USDA,ARS, U.S. Meat Animal Research Center, Clay Center, NE, 68933, USA.

出版信息

Commun Biol. 2024 Jun 12;7(1):724. doi: 10.1038/s42003-024-06403-2.

DOI:10.1038/s42003-024-06403-2
PMID:38866948
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11169601/
Abstract

Most genetic variants associated with fertility in mammals fall in non-coding regions of the genome and it is unclear how these variants affect fertility. Here we use genome-wide association summary statistics for Heifer puberty (pubertal or not at 600 days) from 27,707 Bos indicus, Bos taurus and crossbred cattle; multi-trait GWAS signals from 2119 indicine cattle for four fertility traits, including days to calving, age at first calving, pregnancy status, and foetus age in weeks (assessed by rectal palpation of the foetus); and expression quantitative trait locus for whole blood from 489 indicine cattle, to identify 87 putatively functional genes affecting cattle fertility. Our analysis reveals a significant overlap between the set of cattle and previously reported human fertility-related genes, impling the existence of a shared pool of genes that regulate fertility in mammals. These findings are crucial for developing approaches to improve fertility in cattle and potentially other mammals.

摘要

大多数与哺乳动物生育能力相关的遗传变异都位于基因组的非编码区域，目前尚不清楚这些变异如何影响生育能力。在这里，我们使用了来自 27707 头印度牛、瘤牛和杂交牛的 Heifer 青春期（600 天是否达到青春期）的全基因组关联汇总统计数据；来自 2119 头印度牛的四个生育能力性状（包括产犊天数、首次产犊年龄、妊娠状态和胎儿周龄（通过直肠触诊胎儿评估））的多性状 GWAS 信号；以及来自 489 头印度牛的全血表达数量性状基因座，以确定 87 个可能影响牛生育能力的功能基因。我们的分析揭示了牛和以前报道的人类生育相关基因之间存在显著的重叠，这表明存在一个共同的基因库，调节哺乳动物的生育能力。这些发现对于开发提高牛和潜在其他哺乳动物生育能力的方法至关重要。

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