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比较基因组分析揭示了三个中国本土山羊品种表型特征的独特遗传组成和选择信号。

Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds.

机构信息

College of Animal Science and Technology, Sichuan Agricultural University, Chengdu, 611130, China.

Institute of Animal Science, Tibet Academy of Agricultural and Animal Husbandry Sciences, Lhasa, 850009, China.

出版信息

Genet Sel Evol. 2019 Nov 26;51(1):70. doi: 10.1186/s12711-019-0512-4.

Abstract

BACKGROUND

As one of the important livestock species around the world, goats provide abundant meat, milk, and fiber to fulfill basic human needs. However, the genetic loci that underlie phenotypic variations in domestic goats are largely unknown, particularly for economically important traits. In this study, we sequenced the whole genome of 38 goats from three Chinese breeds (Chengdu Brown, Jintang Black, and Tibetan Cashmere) and downloaded the genome sequence data of 30 goats from five other breeds (four non-Chinese and one Chinese breed) and 21 Bezoar ibexes to investigate the genetic composition and selection signatures of the Chinese goat breeds after domestication.

RESULTS

Based on population structure analysis and F values (average F = 0.22), the genetic composition of Chengdu Brown goats differs considerably from that of Bezoar ibexes as a result of geographic isolation. Strikingly, the genes under selection that we identified in Tibetan Cashmere goats were significantly enriched in the categories hair growth and bone and nervous system development, possibly because they are involved in adaptation to high-altitude. In particular, we found a large difference in allele frequency of one novel SNP (c.-253G>A) in the 5'-UTR of FGF5 between Cashmere goats and goat breeds with short hair. The mutation at this site introduces a start codon that results in the occurrence of a premature FGF5 protein and is likely a natural causal variant that is involved in the long hair phenotype of cashmere goats. The haplotype tagged with the AGG-allele in exon 12 of DSG3, which encodes a cell adhesion molecule that is expressed mainly in the skin, was almost fixed in Tibetan Cashmere goats, whereas this locus still segregates in the lowland goat breeds. The pigmentation gene KITLG showed a strong signature of selection in Tibetan Cashmere goats. The genes ASIP and LCORL were identified as being under positive selection in Jintang Black goats.

CONCLUSIONS

After domestication, geographic isolation of some goat breeds has resulted in distinct genetic structures. Furthermore, our work highlights several positively selected genes that likely contributed to breed-related traits in domestic goats.

摘要

背景

作为全球重要的家畜物种之一,山羊为人类提供了丰富的肉、奶和纤维。然而,目前尚不清楚导致家养山羊表型变异的遗传基因座,特别是对于具有重要经济意义的性状。本研究对来自中国三个品种(成都麻羊、金堂黑山羊和藏绵羊)的 38 只山羊进行了全基因组测序,并下载了来自五个其他品种(四个非中国品种和一个中国品种)和 21 只野山羊的基因组序列数据,以研究中国山羊品种在驯化后的遗传组成和选择特征。

结果

基于群体结构分析和 F 值(平均 F=0.22),由于地理隔离,成都麻羊的遗传组成与野山羊有很大的不同。值得注意的是,我们在藏绵羊中发现的受选择基因在毛发生长和骨骼及神经系统发育等类别中显著富集,这可能是由于它们参与了对高海拔的适应。特别是,我们在 FGF5 的 5'-UTR 中发现了一个新 SNP(c.-253G>A)的等位基因频率在藏绵羊和其他短毛山羊品种之间存在很大差异。该位点的突变引入了一个起始密码子,导致 FGF5 蛋白过早出现,这很可能是一个自然因果变体,参与了藏绵羊的长毛表型。在编码主要在皮肤中表达的细胞粘附分子的 DSG3 基因的外显子 12 中带有 AGG-等位基因的单倍型在藏绵羊中几乎固定,而这个位点在低地山羊品种中仍然存在。在藏绵羊中,色素基因 KITLG 表现出强烈的选择信号。ASIP 和 LCORL 基因被鉴定为金堂黑山羊的正选择基因。

结论

在驯化后,一些山羊品种的地理隔离导致了截然不同的遗传结构。此外,我们的工作强调了几个可能对家养山羊相关性状有贡献的正选择基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5177/6880376/5a3ddfa96493/12711_2019_512_Fig1_HTML.jpg

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