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羊角基因的表达、多态性和潜在功能位点。

Expression, Polymorphism, and Potential Functional Sites of the Gene in the Sheep Horn.

机构信息

School of Chemistry and Chemical Engineering, University of Jinan, Jinan 250022, China.

State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences (CAAS), Beijing 100193, China.

出版信息

Genes (Basel). 2024 Mar 19;15(3):376. doi: 10.3390/genes15030376.

Abstract

Sheep horns are composed of bone and sheaths, and the gene is required for cartilage and osteogenic differentiation. Therefore, the gene may have a function related to the sheep horn, but its relationship with the sheep horn remains unclear. In this study, we first utilized RNA sequencing (RNA-seq) data to investigate the expression of the gene in different tissues and breeds of sheep. Second, whole-genome sequencing (WGS) data were used to explore the functional sites of the gene. Lastly, the allele-specific expression of the gene was explored. Our results indicate that gene expression is significantly higher in the normal horn groups than in the scurred groups. Importantly, this trend is consistent across several sheep breeds. Therefore, this finding suggests that the gene may be related to horn type. A total of 43 Single-Nucleotide Polymorphisms (SNPs) (F-statistics > 0.15) and 10 allele-specific expressions (ASEs) exhibited difference between the large and small horn populations. It is probable that these sites significantly impact the size of sheep horns. Compared to other polled species, we discovered ten amino acid sites that could influence horn presence. By combining RNA-seq and WGS functional loci results, we identified a functional site at position 40574836 on chromosome 25 that is both an SNP and exhibits allele-specific expression. In conclusion, we demonstrated that the gene is associated with horn type and identified some important functional sites which can be used as molecular markers in the breeding of sheep horns.

摘要

羊的角由骨和鞘组成,该基因对于软骨和成骨分化是必需的。因此,该基因可能与羊的角具有某种功能关系,但它与羊的角的关系尚不清楚。在本研究中,我们首先利用 RNA 测序(RNA-seq)数据研究了该基因在不同组织和绵羊品种中的表达情况。其次,利用全基因组测序(WGS)数据探索了该基因的功能位点。最后,探索了该基因的等位基因特异性表达。我们的结果表明,在正常角群体中,该基因的表达明显高于有角畸形群体。重要的是,这种趋势在几个绵羊品种中都是一致的。因此,这一发现表明该基因可能与角型有关。在大角和小角群体之间共检测到 43 个单核苷酸多态性(SNP)(F 统计值>0.15)和 10 个等位基因特异性表达(ASE)存在差异。这些位点很可能显著影响羊的角大小。与其他无角品种相比,我们发现了 10 个可能影响角存在的氨基酸位点。通过结合 RNA-seq 和 WGS 功能位点的结果,我们在 25 号染色体上确定了一个位于 40574836 位置的功能位点,该位点既是 SNP,也表现出等位基因特异性表达。总之,我们证明了该基因与角型有关,并鉴定了一些重要的功能位点,这些位点可以作为绵羊角选育的分子标记。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4024/10970624/5760edbaee7d/genes-15-00376-g001.jpg

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