Genomic Study of Silent Heat: A Novel Mutation in HSD17β1 Gene Muting the Potential of Black Gold of Asia
Genomic Study of Silent Heat: A Novel Mutation in HSD17β1 Gene Muting the Potential of Black Gold of Asia
Basit Imtiaz1, Asif Nadeem2, Huma Mujahid1 and Maryam Javed1*
ABSTRACT
Buffaloes are useful in the conversion of straw into agro-industry waste and bio-fertilizer, in addition to giving milk, meat, and mechanical power to humans. Between 65 and 60% of the world’s milk is produced by buffaloes. Regardless of their excellent production capabilities, buffalo production is challenged due to poor fertility, delayed maturity, poor estrus behavior and seasonality in breeding. Buffaloes have a high level of genetic variation, which might affect the buffalo estrus cyclicity. When female animals exhibit estrus behavior, male animals are attracted to their female counterparts, and this is known as the mating instinct. Buffalo being a shy breeder depicts the estrus behavior late night. Very hot climate may also affect the estrus behavior. But in majority of the cases estrus signs are not visible enough to ensure the mating. Various genomic regions have been identified affecting poor estrus behavior in buffaloes. In the current study, novel insertion (p.3491) was found in HSD17β1 gene which is a key role player in production of estradiol. Polymorphic site was identified by comparing the genomic regions of animals with higher and lower heat score (≥50). This polymorphism was further analyzed for Hardy Weinberg Equilibrium (HWE), allelic frequency, heterozygosity status and association with heat score calculated by considering exhibited heat signs by animals. A chi-square value of 2.08 (P > 0.05) depicted that genotypic distribution of locus was obeying HWE in the population under study. Allelic frequency of the mutant allele was lower (0.39) but association testsing for the genotypic distribution provided significant values (17.47±0.25). Three dimensional protein structure illustrated the variation between residues 150 to 180. Truncation of five residues was also observed in the length of the mutant protein. Protein network was also constructed to understand the interaction of protein. Functional significance of the identified polymorphic sites illustrates the use of these regions as targeted site for marker assisted selection or genome editing, which would enhance the reproduction potential of river buffalo.
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