title: A novel leptin receptor variant with a conservative amino acid substitution (I359 V) in body weight selected and unselected mouse lines.
abstract: Recently published results revealed linkage of obesity traits to a chromosomal region near the leptin receptor gene (Lepr) locus in high body weight selected big and fat DU6i mice. The purpose of this study was the search for variants of the Lepr gene in selected and unselected mouse lines as a candidate for different body composition traits. The complete Lepr cDNA sequence was analysed in DU6i mice. In addition, body weight, abdominal fat weight and serum leptin levels were measured in 42 day old, male mice of the strains DU6i, DUKs, Him : OF1 and DBA/2. Sequence comparison to the published wild type sequence revealed three silent mutations and an amino acid exchange (I359 V) in the C2 domain of the putative leptin binding site in the line DU6i. Compared to the high body weight selected mice also unselected lean control DUKs mice and Him : OF1 mice harbour the amino acid substitution, although they show significantly lower values for body weight, abdominal fat weight and serum leptin levels. Therefore, we assume that the mutation in the C2 domain of Lepr alone might not result in impaired leptin binding or signaling.
authors.affiliation: Ludwig-Boltzmann Institute for Immuno-, Cyto- and Molecular Genetic Research Vienna,Vienna, Austria. Gudrun.Brockmann@fbn-dummerstorf.de
authors.forename: U
authors.initials: U
authors.lastname: Reichart
authors.forename: U
authors.initials: U
authors.lastname: Renne
authors.forename: B
authors.initials: B
authors.lastname: Aigner
authors.forename: J
authors.initials: J
authors.lastname: Kratzsch
authors.forename: G A
authors.initials: GA
authors.lastname: Brockmann
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001483:Base Sequence; D001835:Body Weight / Q000502:physiology*; D017124:Conserved Sequence; D014644:Genetic Variation; D006801:Humans; D051379:Mice; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D051381:Rats; D011956:Receptors, Cell Surface / Q000235:genetics*; D054411:Receptors, Leptin; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
chemical_list: C515448:LEPR protein, human; D011956:Receptors, Cell Surface; D054411:Receptors, Leptin; C515447:leptin receptor, mouse