Association of a missense mutation in the bovine leptin gene with carcass fat content and leptin mRNA levels
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Buchanan, F.C., Fitzsimmons, C.J, Van Kessel, A.G., Thue TD, Winkelman-Sim DC, & Schmutz SM. (2002). Association of a missense mutation in the bovine leptin gene with carcass fat content and leptin mRNA levels. GSE: Genetics, Selection, Evolution, 34(1), 105-116. http://dx.doi.org/10.1186/1297-9686-34-1-105
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http://dx.doi.org/10.1186/1297-9686-34-1-105
Abstract
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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.
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http://purl.org/coar/resource_type/c_6501 http://purl.org/coar/version/c_970fb48d4fbd8a85
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en