诺都士山羊(Capra hircus)全基因组测序及基因组分析。

IF 2.7 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Mammalian Genome Pub Date : 2023-09-01 DOI:10.1007/s00335-023-09990-3
Mevlüt Arslan
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引用次数: 0

摘要

山羊的人工和自然选择性育种导致了世界各地许多不同的山羊品种。诺都士山羊就是其中一个品种,它是土耳其当地的山羊品种。与地方品种相比,山羊在断奶前的生存能力和繁殖价值方面是有利的。测序技术的发展使我们能够理解巨大的基因组结构和复杂的表型。到目前为止,还没有进行过这样全面的研究来了解诺都兹山羊的基因组结构。在本研究中,我们进行了新一代测序,以了解诺都兹山羊的基因组结构。采用Real-time PCR技术对诺都士山羊个体中突出的CNVs进行评价。构建山羊全基因组,平均覆盖水平为33.1X。在严格的过滤条件下,在Norduz山羊基因组中检测到9,757,980个snp, 1,536,715个InDels和290个CNVs。高影响SNP变异的功能分析表明,经典的补体激活生物学过程在山羊中受到显著影响。在山羊基因组中发现了与病毒防御、免疫反应和细胞膜转运蛋白相关的基因的CNVs。结果表明,在山羊中发现了高拷贝数的GBP2、GBP5和哺乳动物同源基因GBP1,它们是受干扰素刺激的gtp酶。综上所述,遗传变异主要发生在免疫应答过程中,说明诺都士山羊是一种免疫改良山羊品种,自然选择可能在遗传改良中起重要作用。
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Whole-genome sequencing and genomic analysis of Norduz goat (Capra hircus).

Artificial and natural selective breeding of goats has resulted in many different goat breeds all around the world. Norduz goat is one of these breeds, and it is a local goat breed of Turkey. The goats are favorable due to pre-weaning viability and reproduction values compared to the regional breeds. Development in sequencing technologies has let to understand huge genomic structures and complex phenotypes. Until now, such a comprehensive study has not been carried out to understand the genomic structure of the Norduz goats, yet. In the study, the next-generation sequencing was carried out to understand the genomic structure of Norduz goat. Real-time PCR was used to evaluate prominent CNVs in the Norduz goat individuals. Whole genome of the goat was constructed with an average of 33.1X coverage level. In the stringent filtering condition, 9,757,980 SNPs, 1,536,715 InDels, and 290 CNVs were detected in the Norduz goat genome. Functional analysis of high-impact SNP variations showed that the classical complement activation biological process was affected significantly in the goat. CNVs in the goat genome were found in genes related to defense against viruses, immune response, and cell membrane transporters. It was shown that GBP2, GBP5, and mammalian ortholog GBP1, which are INF-stimulated GTPases, were found to be high copy numbers in the goats. To conclude, genetic variations mainly in immunological response processes suggest that Norduz goat is an immunologically improved goat breed and natural selection could take an important role in the genetical improvements of the goats.

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来源期刊
Mammalian Genome
Mammalian Genome 生物-生化与分子生物学
CiteScore
4.00
自引率
0.00%
发文量
33
审稿时长
6-12 weeks
期刊介绍: Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.
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