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使用单核苷酸多态性基因分型阵列对比利牛斯短毛指示犬进行全基因组拷贝数变异检测

A Genome-Wide Detection of Copy Number Variations Using SNP Genotyping Arrays in Braque Français Type Pyrénées Dogs.

作者信息

Di Gerlando Rosalia, Mastrangelo Salvatore, Sardina Maria Teresa, Ragatzu Marco, Spaterna Andrea, Portolano Baldassare, Biscarini Filippo, Ciampolini Roberta

机构信息

Dipartimento Scienze Agrarie, Alimentari e Forestali, University of Palermo, 90128 Palermo, Italy.

Club Italiano Braque Français Type Pyrénées, 58011 Capalbio, Italy.

出版信息

Animals (Basel). 2019 Mar 1;9(3):77. doi: 10.3390/ani9030077.

Abstract

Copy number variants (CNVs) are an important source of genetic variation complementary to single nucleotide polymorphisms (SNPs). Only few studies have been conducted in dogs on CNVs derived from high-density SNP array data, and many canine breeds still remain uncharacterized, e.g., the Braque Français, type Pyrénées breed (BRA). Therefore, in an effort to more comprehensively investigate the canine genome for CNVs, we used a high-density SNP array (170 K) to discover CNVs in BRA. The CNV regions (CNVRs) were identified through the merging of two different CNVRs datasets, obtained separately from SNP data using the PennCNV and SVS software. A total of 45 stringent CNVRs, ranging from 3.5 kb to 458,716 kb in length were detected in 26 dog samples. Results overlapped moderately in comparison with previous studies on CNVs in dogs, leading to the identification of 16 novel CNVRs. A total of 159 genes were annotated in the CNVRs detected with stringent quality criteria in particular high classification stringency and false discovery rate correction. The gene ontology enrichment analysis provided information on biological processes and cellular components related to muscle structure development and muscle cell differentiation. Considering that BRA is a breed used for speed in hunting and retrieval, for the ability to find feathered game, and for pointing, we can hypothesize that selection for such hunting behavior could have driven, at least in part, the presence of these genes into the CNVRs.

摘要

拷贝数变异(CNV)是一种重要的遗传变异来源,是对单核苷酸多态性(SNP)的补充。在犬类中,仅有少数研究基于高密度SNP阵列数据开展了关于CNV的研究,许多犬种仍未得到表征,例如法国比利牛斯指示猎犬(BRA)。因此,为了更全面地研究犬类基因组中的CNV,我们使用高密度SNP阵列(170K)在BRA中发现CNV。通过合并使用PennCNV和SVS软件从SNP数据中分别获得的两个不同的CNVR数据集,确定了CNV区域(CNVR)。在26个犬类样本中总共检测到45个严格的CNVR,长度从3.5kb到458,716kb不等。与之前关于犬类CNV的研究相比,结果有适度重叠,从而鉴定出16个新的CNVR。在以严格质量标准(特别是高分类严格性和错误发现率校正)检测到的CNVR中总共注释了159个基因。基因本体富集分析提供了与肌肉结构发育和肌肉细胞分化相关的生物学过程和细胞成分的信息。考虑到BRA是一种用于狩猎和检索速度、寻找有羽毛猎物以及指示猎物位置的犬种,我们可以推测,对这种狩猎行为的选择可能至少部分地促使了这些基因存在于CNVR中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a7ee/6466271/63e3da685a74/animals-09-00077-g001.jpg

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