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Molecular genetic characterization of ovine CSN1S2 variants C and D reveal further important variability within CSN1S2
Author(s) -
Giambra I. J.,
Erhardt G.
Publication year - 2012
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2011.02299.x
Subject(s) - biology , single nucleotide polymorphism , genetics , snp , exon , microbiology and biotechnology , phylogenetic tree , dna sequencing , gene , sequence analysis , genotype
Summary 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.