title: Comparative analysis of gene sequence of goat CSN1S1 F and N alleles and characterization of CSN1S1 transcript variants in mammary gland.
abstract: In this paper, we report the full characterization, at DNA and RNA level, of the defective goat CSN1S1 F and N alleles and an extensive comparison with the A allele counterpart. By utilizing genomic DNA as template, we amplified the whole CSN1S1 gene plus 1972/3 nucleotides of the 5' region plus 610 nucleotides of the 3' region of the goat CSN1S1 N and CSN1S1 F alleles. Comparison of sequences of the N, F and A CSN1S1 alleles showed a total of 118 polymorphic sites. In particular, both the N and the F alleles are characterized by a deletion of the cytosine at the 23rd nucleotide of the 9th exon. The resulting one-nucleotide frameshift determines a premature stop codon (TGA, nucleotides 17-19 of the 12th exon). On the basis of the information so far available, it seems reasonable to hypothesize that the CSN1S1 N allele might be originated by interallelic recombination events. Comparison of transcripts produced by the N and F alleles shows a remarkable variability in alternative splicing events which concern, even though with different percentage ratios, mainly the lack of the 9th exon, the deletion of the last 5 nucleotides of the 9th exon and the contemporary deletion of exons 10 and 11.
authors.affiliation: Dipartimento di Scienze Zootecniche e Ispezione degli Alimenti, Università degli Studi di Napoli "Federico II", Via Università 133, 80055 Portici (Na), Italy. ramunno@unina.it
authors.forename: Luigi
authors.initials: L
authors.lastname: Ramunno
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Cosenza
authors.forename: Andrea
authors.initials: A
authors.lastname: Rando
authors.forename: Alfredo
authors.initials: A
authors.lastname: Pauciullo
authors.forename: Rosa
authors.initials: R
authors.lastname: Illario
authors.forename: Daniela
authors.initials: D
authors.lastname: Gallo
authors.forename: Dino
authors.initials: D
authors.lastname: Di Berardino
authors.forename: Piero
authors.initials: P
authors.lastname: Masina
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D002364:Caseins / Q000235:genetics*; D003001:Cloning, Molecular; D017353:Gene Deletion; D014644:Genetic Variation; D006041:Goats / Q000235:genetics*; D007438:Introns; D008321:Mammary Glands, Animal / Q000378:metabolism*; D012333:RNA, Messenger; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D002364:Caseins; D012333:RNA, Messenger