title: Short communication: molecular genetic characterization of ovine alpha(S1)-casein allele H caused by alternative splicing.
abstract: Sequencing of ovine CSN1S1*H cDNA showed an absence of exon 8 in comparison with GenBank sequences; the absence was confirmed by protein sequencing. We demonstrated that this allelic aberration is the result of a deletion of 4 nucleotides, the last 3 of exon 8 and the first 1 of intron 8, which are replaced by an insertion of 13 nucleotides in the DNA sequence. The insertion is a precise duplication of a part of the adjacent intronic sequence of CSN1S1*C''. These sequence differences result in an inactivation of the splice donor sequence distal to exon 8, leading to upstream exon skipping during the serial splice reactions of the ovine CSN1S1*H pre-mRNA, and may affect the specific casein expression as well as protein characteristics.
authors.affiliation: Department of Animal Breeding and Genetics, Justus-Liebig-University, 35390 Giessen, Germany.
authors.forename: I J
authors.initials: IJ
authors.lastname: Giambra
authors.forename: L
authors.initials: L
authors.lastname: Chianese
authors.forename: P
authors.initials: P
authors.lastname: Ferranti
authors.forename: G
authors.initials: G
authors.lastname: Erhardt
mesh_terms: D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics*; D000818:Animals; D002364:Caseins / Q000235:genetics*; D014644:Genetic Variation; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000662:veterinary; D016415:Sequence Alignment; D012756:Sheep / Q000235:genetics*
chemical_list: D002364:Caseins