马早期流产相关功能基因挖掘的研究

旨在探究与马早期流产相关的功能基因。在同一舍饲马群体中筛选配种后45 d能够检查到胚胎,但2~4个月后发生流产的母马10匹（流产组）,以及能正常分娩的母马10匹（分娩组）。采集马匹血液样本,提取基因组DNA。全基因组平均测序深度为10×,基因组覆盖度97%以上,每个样本大约测得4×10⁶个SNP。对流产组和分娩组的全基因组重测序数据进行比较。结果表明：通过Fst分析获得1 381个SNP位点,π分析获得1 614个SNP位点,联合分析得到203个SNP位点;过滤掉突变基因间区域、非编码区域、内含子和同义SNV后得到82个SNP位点,定位于69个基因上;通过GO term、信号通路富集分析以及文献查阅,筛选出其中的12个基因为马早期流产和胚胎着床的重要候选基因,这些候选基因通过参与激素调节、胚胎侵入、维生素合成代谢等影响胚胎着床。研究结果为揭示引起马匹早期流产的原因提供了生物信息学方面的参考。

Discovery of Functional Genes Associated with Mare Early Abortion

This study aimed to discover the functional genes potentially associated with mare early abortion.Ten mares that had the presence of embryo at 45th day after mating but miscarried two to four months after mating and ten mares that normally delivered were selected from the same confined rearing horse herd.Blood samples from the selected mares were collected,and the genomic DNA was extracted.The average sequencing depth of the whole genome was 10×,the genome coverage was over 97%,and about 4×10^6 SNPs were obtained from each sample.The whole genome resequencing data between the mares in miscarriage group and normal delivery group were compared.The results showed that Fst analysis obtained 1381 SNPs,πanalysis obtained 1614 SNPs,and the combinative analysis of Fst andπobtained 203 SNPs;by filtering out the intergenic regions of mutagenesis,non-coding regions,introns and synonymous SNVs,a total of 82 SNPs locating on 69 genes were found;through GO term,signal pathway enrichment analysis and literature review,12 genes were considered as important candidate genes involved in early abortion and embryo implantation in mares;the screened candidate genes affected the embryo implantation by ways such as participating in hormone regulation,embryo invasion,vitamin anabolism.The results of this study provide reference data in bioinformatics for unraveling the molecular mechanism underlying the causes of early abortion in mares.