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

Autor: Winkelman-Sim Dianne C, Thue Tracey D, Van Kessel Andrew G, Fitzsimmons Carolyn J, Buchanan Fiona C, Schmutz Sheila M
Jazyk: German<br />English<br />French
Rok vydání: 2002
Předmět:
Zdroj: Genetics Selection Evolution, Vol 34, Iss 1, Pp 105-116 (2002)
Druh dokumentu: article
ISSN: 1297-9686
0999-193X
DOI: 10.1186/1297-9686-34-1-105
Popis: Abstract 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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