Novel Single Nucleotide Polymorphisms (SNPs) in Two Oogenesis Specific Genes (BMP15, GDF9) and Their Association with Litter Size in Markhoz Goat (Iranian Angora)

BMP15 and GDF9 are two oogenesis specific genes play a pivotal role in female fertility in mammals and potential for improvement of prolificacy in marker-assisted selection. The aim of present research was to investigate the variation and association between BMP15 and GDF9 polymorphism and litter size in Markhoz goats. The sequence variability of the different amplified fragments utilized for genotyping was further investigated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and sequencing. Sequencing technology allowed the detection of two nucleotide variations: A both non-functional mutation (G/A) transition at nt 1026 known as P3) and a synonymous mutation at 1049 position which for the first time was found at the BMP15 gene. Also, GDF9 gene exhibited a polymorphism on BcnI site (1159 bp) within exon 2 of amplified PCR products (glutamine/proline). Our analysis using general linear model (GLM) statistical methods showed litter size was significantly influenced by genotypes of GDF9 (P<0.01). Heterozygous genotype showed higher litter size than homozygous genotypes (P<0.01). The conformation of this founding would need large sample size and test to screen in other indigenous goats.