The novel T755C mutation in BMP15 is associated with the litter size of Iranian Afshari, Ghezel, and Shal breeds

The present study was conducted to determine the molecular genetic variation in bone morphogenetic protein 15 (BMP15) of some selected Iranian sheep breeds and aims to provide relevant genetic information for twin-birth lambing. Therefore, a total of 44 rams and 213 ewes with single-, twin-, and triplet-birth lambing were used from Shal, Ghezel, Afshari and Lori-Bakhtiari sheep breeds. Three primer pairs were used for amplification of exons 1 and 2 of the BMP15 gene. The sequencing result of distinctive single-strand conformation polymorphism (SSCP) patterns showed segregation of the T755C mutation and the ensuing non-conservative substitution of L252P in the BMP15 propeptide. All three ewes with triplet-birth lambing and two sterile ewes were heterozygotic for this mutation. Association analysis revealed that this mutation was significantly related to the ewe's litter size, so that ewes with the CT genotype had 0.24 and 0.30 more lambs than those with the CC (p < 0.05) and TT (p < 0.01) genotypes, respectively. The mutation effect on the litter size was incomplete dominance in Afshari breed and over-dominance in Shal and Ghezel breeds. In conclusion, the findings in this experiment suggested synergistic effects of the T755C mutation and other unknown mutations in other effective genes which cause infertility and higher litter size in two different ways.