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全基因组重测序鉴定了藏鸡低氧适应相关的单核苷酸多态性、插入/缺失和结构变异的独特适应性。

Whole genome re-sequencing identifies unique adaption of single nucleotide polymorphism, insertion/deletion and structure variation related to hypoxia in Tibetan chickens.

机构信息

Sichuan Animal Science Academy, Chengdu, Sichuan, 610066, China; Animal Breeding and Genetics key Laboratory of Sichuan Province, Chengdu, Sichuan, 610066, China.

Sichuan Animal Science Academy, Chengdu, Sichuan, 610066, China.

出版信息

Gene Expr Patterns. 2021 Jun;40:119181. doi: 10.1016/j.gep.2021.119181. Epub 2021 May 15.

DOI:10.1016/j.gep.2021.119181
PMID:34004346
Abstract

BACKGROUND

The adaptation to hypoxia in high altitude areas has great research value in the field of biological sciences. Tibetan chicken has unique adaptability to high-altitude, low pressure and anoxic conditions, and served as a biological model to search for genetic diversity of hypoxia adaption.

METHODS

The whole genome re-sequencing technology was conducted to investigate the genetic diversity.

RESULTS

In this study, we obtained quantity genetic resource, contained 5164926 single nucleotide polymorphisms (SNPs), 237504 Insertion/Deletion (InDel), 55606 structural variation types in all chromosomes of Tibetan chicken. Moreover, 17154 non-synonymous mutations, 45763 synonymous mutations, 258 InDel mutations and 9468 structural mutations were detected in coding sequencing (CDS) region. Furthermore, SNPs occur in 591 genes, including HIF1A, VEGF, MAPK 8/9/10/11, PPARA/D/G, NOTCH2, and ABCs, which were involved in 14 hypoxia-related pathways, such as VEGF signaling pathway, MAPK signaling pathway, PPAR signaling pathway and Notch signaling pathway. Among them, 19 genes with non-synonymous SNP variation in CDS were identified. Moreover, structure variation in CDS also occurred in the mentioned above genes with SNPs.

CONCLUSIONS

This study provides useful targets for clarifying the hypoxia adaptability of the domestication of chickens in Tibetan and may help breeding efforts to develop improved breeds for the highlands.

摘要

背景

高海拔地区的低氧适应在生物科学领域具有重要的研究价值。藏鸡对高海拔、低压和缺氧环境具有独特的适应性,是寻找低氧适应遗传多样性的生物模型。

方法

采用全基因组重测序技术研究遗传多样性。

结果

本研究在藏鸡全基因组范围内获得了数量遗传资源,包含 5164926 个单核苷酸多态性(SNP)、237504 个插入/缺失(InDel)和 55606 种结构变异类型。此外,在编码序列(CDS)区共检测到 17154 个非同义突变、45763 个同义突变、258 个 InDel 突变和 9468 个结构突变。进一步分析发现,591 个基因中存在 SNP,这些基因包括 HIF1A、VEGF、MAPK8/9/10/11、PPARA/D/G、NOTCH2 和 ABCs 等,涉及 14 条低氧相关通路,如 VEGF 信号通路、MAPK 信号通路、PPAR 信号通路和 Notch 信号通路。其中,在 CDS 区发现 19 个具有非同义 SNP 变异的基因。此外,在 SNP 存在的情况下,CDS 区也发生了结构变异。

结论

本研究为阐明藏鸡驯化过程中的低氧适应性提供了有价值的靶标,可能有助于培育高原改良品种的工作。

相似文献

1
Whole genome re-sequencing identifies unique adaption of single nucleotide polymorphism, insertion/deletion and structure variation related to hypoxia in Tibetan chickens.全基因组重测序鉴定了藏鸡低氧适应相关的单核苷酸多态性、插入/缺失和结构变异的独特适应性。
Gene Expr Patterns. 2021 Jun;40:119181. doi: 10.1016/j.gep.2021.119181. Epub 2021 May 15.
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A non-synonymous SNP with the allele frequency correlated with the altitude may contribute to the hypoxia adaptation of Tibetan chicken.一个等位基因频率与海拔相关的非同义单核苷酸多态性可能有助于藏鸡的低氧适应。
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引用本文的文献

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Key miRNAs and Genes in the High-Altitude Adaptation of Tibetan Chickens.藏鸡高原适应性中的关键微小RNA和基因
Front Vet Sci. 2022 Jul 14;9:911685. doi: 10.3389/fvets.2022.911685. eCollection 2022.
2
Notch Signaling and Cross-Talk in Hypoxia: A Candidate Pathway for High-Altitude Adaptation.缺氧中的Notch信号传导与相互作用:一种高海拔适应的候选途径。
Life (Basel). 2022 Mar 16;12(3):437. doi: 10.3390/life12030437.