Genomics and proteomics of deleted ovine CSN1S11I |
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| Authors: | Isabella Jasmin Giambra Lina Chianese Pasquale Ferranti Georg Erhardt |
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| Affiliation: | 1. Department of Cattle Breeding and Milk Evaluation, Faculty of Animal Bioengineering, University of Warmia and Mazury in Olsztyn, ul. Oczapowskiego 5, 10-719 Olsztyn, Poland;2. Department of Animal Nutrition and Feed Science, Faculty of Animal Bioengineering, University of Warmia and Mazury in Olsztyn, ul. Oczapowskiego 5, 10-719 Olsztyn, Poland;3. Department of Industrial Commodity, Basics of Techniques and Energy Management, Faculty of Food Sciences, University of Warmia and Mazury in Olsztyn, Plac Cieszyński 1, 10-719, Poland |
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| Abstract: | Ovine αs1-casein (CSN1S1) allele I (CSN1S11I) was characterized at the molecular genetic and protein level. Sequencing of CSN1S1 cDNA and mature protein showed the absence of exon 7 from CSN1S11I in comparison with the C″ genetic variant of the C phenotype. This allelic aberration is correlated with a sequence difference in 5′-splice donor sequence of intron 7 (g.656T > A), leading to upstream skipping of exon 7. Consequently mRNA sequence of ovine CSN1S11I is 24 bp shorter than complete coding sequence leading to an abbreviation of eight amino acids in the mature protein, resulting in a lower degree of phosphorylation in comparison with CSN1S11C″. However CSN1S11I was expressed at a quantitative level similar to that for the C″ reference variant. Using amplified created restriction site polymerase chain reaction, a DNA-based test for identification of CSN1S11I was developed. Altogether six nucleotide substitutions were identified within intron 6 and intron 7 of CSN1S1 variants, forming three different haplotypes. |
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