title: Molecular genetic characterization of ovine CSN1S2 variants C and D reveal further important variability within CSN1S2.
abstract: Within this study, the recently identified ovine CSN1S2 variants C and D were characterized at the molecular genetic level. Sequencing of the cDNA and of parts of the DNA identified several sequence differences within CSN1S2*C and D in comparison to CSN1S2*A and B. CSN1S2*C is characterized by two non-synonymous single nucleotide polymorphisms (SNPs) within exon 7 (c.178A>G, c.187G>T) leading to the amino acid substitutions p.Val45Ile and p.Ala48Ser. CSN1S2*D is caused by the SNP c.183G>C, leading to an amino acid replacement at position 46 (p.Arg46Ser). A very common c.527G>A-SNP within exon 15, resulting in the amino acid substitution p.Arg161His and producing the new variant CSN1S2*G, not detectable by isoelectric focusing and previously misidentified as CSN1S2*A, was also identified. On the basis of the identified sequence differences, a new nomenclature is proposed and a possible phylogenetic pathway shown for ovine CSN1S2 variants.
authors.affiliation: Department of Animal Breeding and Genetics, Justus-Liebig-University, Ludwigstr. 21b, Giessen 35390, Germany.
authors.forename: I J
authors.initials: IJ
authors.lastname: Giambra
authors.forename: G
authors.initials: G
authors.lastname: Erhardt
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001483:Base Sequence; D002364:Caseins / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D008969:Molecular Sequence Data; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D012756:Sheep / Q000235:genetics*
chemical_list: D002364:Caseins; D018076:DNA, Complementary