The Identification of Mutation in BMP15 Gene Associated with Litter Size in Xinjiang Cele Black Sheep

Abstract

The Bone Morphogenetic Protein 15 (BMP15) gene is known to have multiple single-nucleotide polymorphism sites associated with sheep fecundity. This study used gene sequence analysis and mutation detection assays for BMP15 by using 205 blood samples of ewes with known lambing records. Sequence analysis showed that mutation B1 missed the CTT base in exon 1 at positions 28–30, leading to a leucine deletion in the BMP15 protein. Litter size of ewes differed significantly between BB and B+ genotypes of B1 (p < 0.05); however, the differences between wild genotype (++) and homozygous (BB) or wild genotype (++) and heterozygous (B+) were not significant (p > 0.05). Another mutation, T755C, is a T-to-C base change at position 755 of exon 2, resulting in leucine replacement by proline at this position of the BMP15 protein (p.L252P). Two genotypes were identified in the flock: heterozygous (E+) and wild-type genotype (++). Ewes with heterozygous (E+) p.L252P had significantly larger litter sizes than those with the wild-type genotype (p < 0.05). Comprehensive analysis suggests that p.L252P is a mutation that affects fecundity in Cele black sheep.

Mutations in the bone morphogenetic protein 15 gene causing defective protein secretion in Cholistani infertile sheep

“…Bone Morphogenetic Protein 15 (BMP15) gene plays an important role in the fecundity of sheep (Ovis aries) and this gene can be used as a potential target to increase the fecundity in mammals (Juengel et al, 2002;Niu et al, 2021). The current study aimed to explore the mutational spectrum of BMP15 in Cholistani sheep which will be very useful for breeding purpose.…”

“…In past two decades, tremendous efforts have been made throughout the world to figure out major genes involved in the fertility of sheep. Three fecundity genes (Fec) namely; BMP15 (Bone Morphogenetic Protein 15) called as FecX, GDF9 (growth and differentiation factor 9) known as FecG and BMPR-IB (bone morphogenetic protein receptor type IB) also known as FecB are found to play an essential role in the folliculogenesis of sheep (Chu et al, 2005;Castro et al, 2016;Hanrahan et al, 2004;Niu et al, 2021). Interestingly, all these fecundity genes belong to the same TGFβ superfamily, transforming growth factor beta superfamily (Fabre et al, 2006).…”

“…In sheep, BMP15 gene is located on the X-chromosome and it has two exons (E1 and E2). This gene encodes for 393 amino-acid long pre-protein and a mature BMP15 protein containing 125 amino acids (Niu et al, 2021). The protein encoded by BMP15 gene only express in the oocytes of developing follicles, thus plays a key role in the fertility of mammals (Bodensteiner et al, 1999;Galloway et al, 2000).…”

“…Many studies worldwide and in Pakistan have already reported the BMP15 mutations in different breeds of sheep (Bodin et al, 2007;Chu et al, 2005;Galloway et al, 2000;Hanrahan et al, 2004;Jalbani et al, 2017;Martinez-Royo et al, 2008;Monteagudo et al, 2009;Niu et al, 2021), but none of the study has reported the BMP15 mutations in infertile Cholistani sheep which are the major source of meat and wool in Southern Punjab, Pakistan. Keeping in view the role of BMP15 in sheep fertility, it is worth to investigate the mutational spectrum of BMP15 in infertile Cholistani sheep.…”

Detection of Novel Variations Related to Litter Size in BMP15 Gene of Luzhong Mutton Sheep (Ovis aries)

“…Among them, the variation was only associated with litter size in the composite sheep ( p < 0.001) [ 30 ]. In Xinjiang Cele Black Sheep, a significant difference in litter size was reported between the deletion homozygous genotype and the heterozygous genotype; however, no significant differences existed between other genotypes [ 31 ]. Therefore, the impact of this variation on litter size is complex, and more breeds will need to be analyzed to estimate its effects.…”