Zhu Leijing, Shen Siyuan, Pan Chuanying, Lan Xianyong, Li Jie
College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Animals (Basel). 2024 Feb 12;14(4):597. doi: 10.3390/ani14040597.
The amelioration of bovine fertility caused by a multi-factorial problem has always been a hot topic, among which the detection of available target genes is the most crucial. It was hypothesized that the Fraser extracellular matrix complex subunit 1 (1) gene detected by GWAS is involved in physiological activities such as ovarian development. Herein, unilateral ovaries from 2111 cows were used to examine the mRNA expression profile and polymorphisms of bovine and their associations with fertility-related characteristics. Firstly, it was confirmed that gene transcripts are expressed in various bovine tissues. Then, among five potential insertion-deletion (indel) loci, the 20 bp (named P3-D20-bp) and 15 bp (P4-D15-bp) deletion mutations were confirmed to be polymorphic with linkage equilibrium. Secondly, the P3-D20-bp polymorphism was significantly associated with ovarian weight and corpus luteum diameter in the metaestrus phase and ovarian length in the dioestrum stage. Additionally, both ovarian length and mature follicle diameter in metaestrus are significantly correlated with different genotypes of P4-D15-bp. Thirdly, the transcriptional expression of the gene in groups with a minimum value of ovarian weight or volume was significantly higher than the expression in groups with a maximum value. Instead of that, the more corpus luteum and mature follicles there are, the higher the transcription expression of the gene is. Furthermore, expression in cows with a heterozygous genotype (ID) of P3-D20-bp was significantly higher than others. Eventually, P3-D20-bp deletion could disturb the binding efficiency of WT1-I and Sox2 to sequence according to binding prediction, indicating that mutation may affect gene expression and traits by influencing the binding of transcription factors. Overall, the polymorphisms of P3-D20-bp and P4-D15-bp of the bovine gene significantly correlated to follicle or ovarian traits that could be applied in optimizing female fertility in cow MAS breeding programs.
由多因素问题导致的奶牛繁殖力改善一直是一个热门话题，其中检测可用的靶基因是最关键的。据推测，通过全基因组关联研究（GWAS）检测到的弗雷泽细胞外基质复合亚基1（FRAS1）基因参与了诸如卵巢发育等生理活动。在此，使用来自2111头奶牛的单侧卵巢来检测牛FRAS1基因的mRNA表达谱和多态性及其与繁殖力相关特征的关联。首先，证实了FRAS1基因转录本在各种牛组织中表达。然后，在五个潜在的插入缺失（indel）位点中，20 bp（命名为P3-D20-bp）和15 bp（P4-D15-bp）缺失突变被确认为具有连锁平衡的多态性。其次，P3-D20-bp多态性与发情后期的卵巢重量和黄体直径以及发情间期的卵巢长度显著相关。此外，发情后期的卵巢长度和成熟卵泡直径均与P4-D15-bp的不同基因型显著相关。第三，卵巢重量或体积最小值组中FRAS1基因的转录表达显著高于最大值组。相反，黄体和成熟卵泡越多，FRAS1基因的转录表达越高。此外，P3-D20-bp杂合基因型（ID）奶牛中的FRAS1表达显著高于其他奶牛。最终，根据结合预测，P3-D20-bp缺失可能会干扰WT1-I和Sox2与FRAS1序列的结合效率，表明突变可能通过影响转录因子的结合来影响基因表达和性状。总体而言，牛FRAS1基因的P3-D20-bp和P4-D15-bp多态性与卵泡或卵巢性状显著相关，可应用于优化奶牛标记辅助选择（MAS）育种计划中的雌性繁殖力。
