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Báo cáo Y học: Interallelic recombination is probably responsible for the occurrence of a new as1-casein variant found in the goat species

The as1-casein (as1-Cas) locus in the goat is characterized by a polymorphism, the main feature of which is to be qualitative as well as quantitative. A systematic analysis performed in an autochthon southern Italy breed identified a new rare allele (M), which was characterized at both the protein and genomic level. The M protein displays the slowest electrophoretic mobility of the as1-Cas variants described so far. | Eur. J. Biochem. 269 1293-1303 2002 FEBS 2002 Interallelic recombination is probably responsible for the occurrence of a new as1-casein variant found in the goat species Claudia Bevilacaua1 2 Pasauale Ferranti3 4 Giusennina Garro3 4. Cristina Veltri1 Raffaella Laaoniaro1 BB B w BB bB BB BB w bB WbB w bB bB w BB B BB B BB B B bB B B B BM B w BB BB BB B B B bB BM bB B B bB BB B B B B B bB V BB B B B B B bB B B bB BB B B bB B bB bB BB B B B bB B BB Christine Leroux2 Emilio Pietrola1 Francesco Addeo3 4 Fabio Pilla1 Lina Chianese3 and Patrice Martin2 1 Dipartimento di Scienze Animali Vegetal e dell Ambiente Facoltd di Agraria dell Universita del Molise Campobasso Italy 2Laboratoire de Genetique biochimique et de Cytogenetique INRA Domaine de Vilvert Jouy-en-Josas France 3Dipartimento di Scienza degli Alimenti Facolta di Agraria le Universita di Napoli Federico II Portici Italy 4Istituto di Scienze dell Alimentazione del CNR Avellino Italy The as1-casein as1-Cas locus in the goat is characterized by a polymorphism the main feature of which is to be qualitative as well as quantitative. A systematic analysis performed in an autochthon southern Italy breed identihed a new rare allele M which was characterized at both the protein and genomic level. The M protein displays the slowest electrophoretic mobility of the as1-Cas variants described so far. MS and automated Edman degradation experiments showed that this behavior was due to the loss of two phosphate residues in the multiple phosphorylation site 64SP-SP-SP-SP-SP-E-70E consecutively to a Ser Leu substitution at position 66 of the peptide chain 64S-SP-L-SP-SP-E-70E . This was conhrmed by sequencing a genomic DNA fragment encompassing exon 9 where the 8th codon TCG was shown to be mutated to TTG. Sequencing of amplihed genomic DNA segments spanning the 5 and 3 flanking regions of each exon allowed us to identify 23 single nuc leotide polymorphisms and two insertion deletion events in the coding as well as the noncoding .