Association of and Gene Polymorphisms with Litter Size in Hu Sheep
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(1) Background: Litter size is one of the most important economic traits of sheep. The locus has been extensively studied due to its significant impact on litter size in Hu sheep, and and have also been reported as major genes associated with litter size in sheep. This study aimed to identify variants of and and perform an association analysis of these variants with litter size in the Hu sheep breed. (2) Methods: In this study, exons of the and genes were fully sequenced to identify polymorphisms in Hu sheep. Population genetic parameters and haplotype frequencies were estimated, and an association analysis between these polymorphic loci and litter size was performed. Additionally, the protein structures of the wild-type and mutated and genes were predicted. (3) Results: The polymorphisms of the and genes were investigated within their exon regions, revealing mutations at four previously reported sites: c.31_33CTTdel and (G2, G3, and G4) in Hu sheep, with no novel variants were detected. Genetic analysis indicated that the -G3 and -G4 loci have low polymorphisms, whereas the c.31_33CTTdel and the -G2 locus are moderately polymorphic. The mutation sites in the and genes were under Hardy-Weinberg equilibrium. Association analysis revealed that the c.31_33CTTdel and (G2, G3, and G4) mutations are not associated with litter size in Hu sheep. Protein structure prediction indicated that the mutations in and resulted in alterations to their tertiary structures. (4) Conclusions: In this study, four reported mutations in the and genes can also be detected in the Hu sheep breed. In these mutations, the G2 and G3 mutations of did not alter the amino acid sequence, while the c.31_33CTTdel mutation and the G4 mutation resulted in protein structure alteration. Furthermore, the BMP15 c.31_33CTTdel mutation and the mutations (G2, G3, G4) were associated with an increased tendency in litter size. However, no significant difference was observed ( > 0.05). This study provides valuable insights for improving the lambing performance of Hu sheep.