title: Missense mutations in exon 4 of the porcine LEPR gene encoding extracellular domain and their association with fatness traits.
abstract: Three non-synonymous single nucleotide polymorphisms (T221C, T232A and C233T) were detected in exon 4 of the porcine leptin receptor (LEPR) gene. The T232A substitution could be identified as a (Tsp509I) restriction fragment length polymorphism. The frequency of genotype TT varied in six genetic groups from 0.62 (Duroc) to 0.99 (Polish Large White). Sequencing of exon 4, performed for 30 animals, revealed that only two intragenic haplotypes (TC and AT at nucleotide position 232-233) were present. The phenotypic effect of the Tsp509I polymorphism was tested for the Polish Landrace (n = 241) and a synthetic line 990 (n = 243). There was no statistical evidence for the direct effect of the LEPR polymorphisms on fatness traits. However, in Polish Landrace allele A at position 232 was associated with thicker backfat over shoulder.
authors.affiliation: Department of Animal Genetics and Breeding, August Cieszkowski Agricultural University of Poznan, Poznan, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Mackowski
authors.forename: K
authors.initials: K
authors.lastname: Szymoniak
authors.forename: M
authors.initials: M
authors.lastname: Szydlowski
authors.forename: M
authors.initials: M
authors.lastname: Kamyczek
authors.forename: R
authors.initials: R
authors.lastname: Eckert
authors.forename: M
authors.initials: M
authors.lastname: Rozycki
authors.forename: M
authors.initials: M
authors.lastname: Switonski
mesh_terms: D000818:Animals; D001483:Base Sequence; D001823:Body Composition / Q000235:genetics*; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005838:Genotype; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D011044:Poland; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface / Q000235:genetics*; D054411:Receptors, Leptin; D017422:Sequence Analysis, DNA; D034421:Sus scrofa / Q000235:genetics*
chemical_list: D017931:DNA Primers; D011956:Receptors, Cell Surface; D054411:Receptors, Leptin