Short communication: Molecular genetic characterization of ovine αS1-casein allele H caused by alternative splicing

• Published in: Journal of dairy science Vol. 93; no. 2; pp. 792 - 795
• Main Authors: Giambra, I.J., Chianese, L., Ferranti, P., Erhardt, G.
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.02.2010; Elsevier
• Subjects: alleles; alpha(S1)-casein allele H; Animal productions; Biological and medical sciences; casein; CSN1S1; ewe milk; exon skipping; exons; Food industries; Fundamental and applied biological sciences. Psychology; genetic polymorphism; messenger ribonucleic acid; milk analysis; Milk and cheese industries. Ice creams; milk composition; molecular genetics; molecular sequence data; ovine; sequence analysis; sheep; Terrestrial animal productions; Vertebrates; messenger ribonucleic acid; ovine; CSN1S1; exon skipping; Characterization; Alternative splicing; Milk protein; Allele; Exon; Casein; Dairy industry; Genetics
• ISSN: 0022-0302; 1525-3198
• DOI: 10.3168/jds.2009-2615

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.