Identification and analysis of a 5-bp indel of a porcine BMP7 gene promoter.

Bone morphological protein7 (BMP7), a member of the transforming growth factor-β (TGF-β) family, was first identified because of its ability to induce ectopic chondro-osteogenesis in vivo. It also plays a crucial role in the growth, development, and physiological functioning of the reproductive system. Among intra-ovarian growth factors, many studies have shown that BMP7 plays a pivotal role in regulating the early phases of follicular growth. We detected a 5-bp insertion-deletion at 602 bp upstream from the transcription start site of the BMP7 gene promoter among 258 pigs of 3 breeds. Along with 2 homoduplex DNAs, another 4 previously unknown bands (named A, B, C, and D) were detected by non-denaturing polyacrylamide gel electrophoresis. By DNA sequencing, we found that PCR products from heterozygotes contained 2 homoduplexes and 4 heteroduplexes. Genetic polymorphism analysis revealed 3 genotypes (AA, AB, and BB) at this site; the distribution of these genotypes followed Hardy-Weinberg equilibrium. A was the dominant allele (0.715), and AA was the dominant genotype (0.500). The polymorphism information content value was calculated to be 0.325, the expected heterozygosity was 0.407, and effective number of alleles was 1.688, indicating an intermediate degree of polymorphism and good potential for selection and breeding. Highly significant differences were found between different breeds and distributions of genotypes. Based on correlation analysis, the 5-bp indel site does not significantly affect porcine reproductive traits (total number of births, number of piglets born alive, litter birth weight, and litter weight at 21 days; P>0.05), which was consistent with the results of genetic variation analysis.