Molecular genetic characterization of ovine CSN1S2 variants C and D reveal further important variability within CSN1S2

作者：Giambra I J; Erhardt G^*

来源：Animal Genetics, 2012, 43(5): 642-645.

DOI：10.1111/j.1365-2052.2011.02299.x

• casein
• CSN1S2
• nomenclature
• ovine
• phylogenetic pathway

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%26gt;G, c.187G%26gt;T) leading to the amino acid substitutions p.Val45Ile and p.Ala48Ser. CSN1S2*D is caused by the SNP c.183G%26gt;C, leading to an amino acid replacement at position 46 (p.Arg46Ser). A very common c.527G%26gt;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.

• 出版日期2012-10