PDF(Pubmed)
Abstract：
Sheep horns are composed of bone and sheaths, and the BMPR1A gene is required for cartilage and osteogenic differentiation. Therefore, the BMPR1A 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 BMPR1A gene in different tissues and breeds of sheep. Second, whole-genome sequencing (WGS) data were used to explore the functional sites of the BMPR1A gene. Lastly, the allele-specific expression of the BMPR1A gene was explored. Our results indicate that BMPR1A 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 BMPR1A 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 BMPR1A 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：
羊角由骨和鞘组成，BMPR1A基因是软骨和成骨分化所必需的。因此,BMPR1A基因可能具有与羊角相关的功能，但它与羊角的关系尚不清楚。在这项研究中,我们首先利用RNA测序（RNA-seq）数据来研究BMPR1A基因在不同组织和品种绵羊中的表达。第二,全基因组测序(WGS)数据用于探索BMPR1A基因的功能位点.最后,探索了BMPR1A基因的等位基因特异性表达。我们的结果表明，正常角组的BMPR1A基因表达明显高于卷曲组。重要的是,这种趋势在几个绵羊品种中是一致的。因此,这一发现表明BMPR1A基因可能与角型有关。共有43个单核苷酸多态性（SNP）（F统计>0.15）和10个等位基因特异性表达（ASE）在大角和小角种群之间表现出差异。这些位点可能会显著影响羊角的大小。与其他被调查的物种相比，我们发现了十个可以影响角存在的氨基酸位点。通过结合RNA-seq和WGS功能基因座结果，我们在25号染色体上的40574836位鉴定了一个功能性位点,该位点既是SNP又表现出等位基因特异性表达.总之,我们证明了BMPR1A基因与羊角类型有关，并确定了一些重要的功能位点，这些位点可作为分子标记用于羊角育种。
