Association of a missense mutation in the bovine leptin gene with carcass fat content and leptin mRNA levels

• Author(s) / Creator(s)

  • Fitzsimmons, C. J.
  • Thue, T. D.
  • Buchanan, F. C.
  • Winkelman-Sim, D. C.
  • Schmutz, S. M.
  • Van Kessel, A. G.

• Previously, we have shown that alleles of the BM1500 microsatellite, located 3.6 kb downstream of the leptin gene in cattle, were associated with carcass fat measures in a population of 154 unrelated beef bulls. Subsequently, a cytosine (C) to thymine (T) transition that encoded an amino acid change of an arginine to a cysteine was identified in exon 2 of the leptin gene. A PCR-RFLP was designed and allele frequencies in four beef breeds were correlated with levels of carcass fat. The T allele was associated with fatter carcasses and the C allele with leaner carcasses. The frequencies of the SNP alleles among breeds indicated that British breeds have a higher frequency of the T allele whereas the continental breeds have a higher occurrence of the C allele. A ribonuclease protection assay was developed to quantify leptin mRNA in a separate group of animals selected by genotype. Animals homozygous for thymine expressed higher levels of leptin mRNA. This may suggest that the T allele, which adds an extra cysteine to the protein, imparts a partial loss of biological function and hence could be the causative mutation.

• Date created

  2002

• Subjects / Keywords

  • Missense
  • Leptin/genetics
  • Cattle/genetics
  • Cattle/growth & development
  • Mutations

• Type of Item

  Article (Published)

• DOI

  https://doi.org/10.7939/R37P8TG05

• License

  Attribution 4.0 International