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牛白细胞端粒长度的多品种全基因组关联研究。

A Multibreed Genome-Wide Association Study for Cattle Leukocyte Telomere Length.

机构信息

The Federal Research Center Institute of Cytology and Genetics, The Siberian Branch of the Russian Academy of Sciences (ICG SB RAS), 630090 Novosibirsk, Russia.

Royal Veterinary College, University of London, London NW1 0TU, UK.

出版信息

Genes (Basel). 2023 Aug 7;14(8):1596. doi: 10.3390/genes14081596.

DOI:10.3390/genes14081596
PMID:37628647
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10454124/
Abstract

Telomeres are terminal DNA regions of chromosomes that prevent chromosomal fusion and degradation during cell division. In cattle, leukocyte telomere length (LTL) is associated with longevity, productive lifespan, and disease susceptibility. However, the genetic basis of LTL in this species is less studied than in humans. In this study, we utilized the whole-genome resequencing data of 239 animals from 17 cattle breeds for computational leukocyte telomere length estimation and subsequent genome-wide association study of LTL. As a result, we identified 42 significant SNPs, of which eight were found in seven genes (, , , , , , and ) when using covariates for two major breed groups (Turano-Mongolian and European). Association analysis with covariates for breed effect detected 63 SNPs, including 13 in five genes (, , , , and ). The gene, demonstrating the top signal in analysis with breed effect, was previously associated with leukocyte telomere length in cattle and likely is involved in the mechanism of alternative lengthening of telomeres. The single nucleotide variants found could be tested for marker-assisted selection to improve telomere-length-associated traits.

摘要

端粒是染色体的末端 DNA 区域,可防止染色体在细胞分裂过程中融合和降解。在牛中,白细胞端粒长度(LTL)与长寿、生产寿命和疾病易感性有关。然而,与人类相比,该物种 LTL 的遗传基础研究较少。在这项研究中,我们利用了来自 17 个牛品种的 239 只动物的全基因组重测序数据,用于计算白细胞端粒长度并随后进行 LTL 的全基因组关联研究。结果,我们鉴定出了 42 个显著的 SNP,其中 8 个 SNP 在两个主要品种组(Turano-Mongolian 和 European)中发现了 7 个基因(、、、、、和)。使用品种效应的协变量进行关联分析检测到 63 个 SNP,包括 5 个基因中的 13 个(、、、和)。基因表现出与品种效应分析中最高的信号,先前与牛的白细胞端粒长度有关,并且可能参与端粒的替代延长机制。发现的单核苷酸变体可以进行标记辅助选择,以改善与端粒长度相关的性状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0568/10454124/a8dcc807bfc2/genes-14-01596-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0568/10454124/da68c0dc0c7b/genes-14-01596-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0568/10454124/a8dcc807bfc2/genes-14-01596-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0568/10454124/da68c0dc0c7b/genes-14-01596-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0568/10454124/a8dcc807bfc2/genes-14-01596-g002.jpg

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GPC1 Is Associated with Poor Prognosis and Treg Infiltration in Colon Adenocarcinoma.
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Genetics of human telomere biology disorders.人类端粒生物学障碍的遗传学
Nat Rev Genet. 2023 Feb;24(2):86-108. doi: 10.1038/s41576-022-00527-z. Epub 2022 Sep 23.
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Telomeres and Their Neighbors.端粒及其相邻区域。
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