Comparative analysis of gene sequence of goat CSN1S1 F and N alleles and characterization of CSN1S1 transcript variants in mammary gland.
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.
Ramunno
Luigi
L
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
Cosenza
Gianfranco
G
Rando
Andrea
A
Pauciullo
Alfredo
A
Illario
Rosa
R
Gallo
Daniela
D
Di Berardino
Dino
D
Masina
Piero
P
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
D002364:Caseins; D012333:RNA, Messenger