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  • Title: Short communication: molecular genetic characterization of ovine alpha(S1)-casein allele H caused by alternative splicing.
    Author: Giambra IJ, Chianese L, Ferranti P, Erhardt G.
    Journal: J Dairy Sci; 2010 Feb; 93(2):792-5. PubMed ID: 20105551.
    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.
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