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Genetic architectures and selection signatures of body height in Chinese indigenous donkeys revealed by next-generation sequencing.利用下一代测序技术揭示中国本土驴体高的遗传结构和选择特征。
Anim Genet. 2022 Aug;53(4):487-497. doi: 10.1111/age.13211. Epub 2022 May 10.
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De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.与早发性脑病和小脑萎缩相关的从头 POLR2A p.(Ile457Thr) 变异:扩展表型谱。
Brain Dev. 2022 Aug;44(7):480-485. doi: 10.1016/j.braindev.2022.04.002. Epub 2022 Apr 20.
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POLR2A Promotes the Proliferation of Gastric Cancer Cells by Advancing the Overall Cell Cycle Progression.POLR2A通过推进整体细胞周期进程促进胃癌细胞增殖。
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10
A novel A > G polymorphism in the intron 2 of TBX3 gene is significantly associated with body size in donkeys.TBX3 基因内含子 2 中的一个新的 A>G 多态性与驴的体型大小显著相关。
Gene. 2021 Jun 15;785:145602. doi: 10.1016/j.gene.2021.145602. Epub 2021 Mar 23.

GWAS 揭示与德州驴体尺性状相关的 POLR2A 基因突变。

A mutation in POLR2A gene associated with body size traits in Dezhou donkeys revealed with GWAS.

机构信息

Equine Center, China Agricultural University, Beijing, China.

College of Animal Science and Technology, China Agricultural University, Beijing, China.

出版信息

J Anim Sci. 2024 Jan 3;102. doi: 10.1093/jas/skae217.

DOI:10.1093/jas/skae217
PMID:39079013
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11362846/
Abstract

The Dezhou donkey is a famous local donkey breed in China. The aim of the present study was to identify the genes associated with the body size traits of the Dezhou donkey and facilitate the breeding activities of the donkeys. A total of 349 donkeys from 2 generations (113 individuals in F0 and 236 in F1) were analyzed with restriction-site-associated DNA sequencing. A genome-wide association study revealed that the region between 13.7 and 15.6 Mb of chromosome 13 is significantly associated with body sizes. Candidate genes related to body size development, including POLR2A, CHRNB1, FGF11, and ZBTB4, were identified. The results of GO and KEGG analysis indicated that the genes involved in many GO terms were related to metabolic processes and developmental processes. Additionally, a T>C mutation (Chr13:14312485) was found at intron 10 of the POLR2A gene. The association analysis showed significant differences among genotypes for the size traits. The body size of the individuals with the TT genotype was significantly higher than that with the CC genotype. The results showed that the polymorphism of POLR2A has the potential to be used as a marker in the breeding programs of the Dezhou donkeys.

摘要

德州驴是中国著名的地方驴品种。本研究旨在鉴定与德州驴体尺性状相关的基因,促进驴的选育活动。共分析了 2 代(F0 代 113 只,F1 代 236 只)的 349 只驴,采用了基于限制性位点相关 DNA 测序的全基因组关联研究。研究发现,第 13 号染色体的 13.7-15.6Mb 区域与体尺显著相关。确定了与体尺发育相关的候选基因,包括 POLR2A、CHRNB1、FGF11 和 ZBTB4。GO 和 KEGG 分析结果表明,涉及许多 GO 术语的基因与代谢过程和发育过程有关。此外,还发现了 POLR2A 基因第 10 内含子的 T>C 突变(Chr13:14312485)。关联分析表明,基因型在体型性状上存在显著差异。TT 基因型个体的体尺显著高于 CC 基因型个体。结果表明,POLR2A 多态性有可能作为德州驴选育计划中的一个标记。