In mammals, the hormone prolactin (PRL) is best known for its role in the regulation of lactation (Lee et al. 2007). PRL affects multiple reproductive and metabolic functions through its receptors (PRLR), characterized by the ability to activate Janus kinase 2 and signal transducer and activator of transcription (Fleenor et al. 2006). PRL is an anterior pituitary peptide hormone involved in many endocrine activities essential for reproductive success (Vaclavicek et al. 2006). Several polymorphic sites have been detected within PRL and PRLR genes, and significant associations among their variants with milk production traits have been described in dairy cattle (Alfonso et al. 2012; Zhang et al. 2008). PRL (EMBL EF054878) and PRLR (EMBL GQ339914) genes consist of 5 and 9 exons, coding for a protein of 219 and 581 amino acids, respectively. A partial sequencing of PRL exon 5 and PRLR exon 9 performed on 10 Italian Mediterranean river buffaloes allowed us to identify 1 SNP for PRL (C108→T, numbering from the 1st nt of exon 5) and 7 SNPs for PRLR (G128→A, C374→T, G517→A, C520→A, C622→T, G626→A and T707→C, numbering from the 1st nt of exon 9). The PRL SNP is silent (Leu202) as well as 626 (Ala494) and 707 (Asp521) PRLR SNPs. The other 5 PRLR SNPs are responsible of the following amino acid changes: His328→Arg, Ala410→Val, Asp458→Asn, Gln459→Lys and Thr493→Met. 574 buffaloes of several farms in Salerno province (South Italy) were genotyped in out-sourcing (http://kbioscience.co.uk) for 108 PRL and 128 PRLR SNPs. The genotype distribution of investigated population was 10 C/C, 122 C/T and 442 T/T (frequency of T allele 0.87) for PRL and 9 G/G, 108 G/A and 457 A/A for PRLR (frequency of A allele 0.89). For both SNPs, the investigated population was in Hardy–Weinberg equilibrium. Such polymorphisms could represent useful genetic markers for association studies with quali-quantitative milk characteristics, but further studies are needed to evaluate their potential use.
Genetic variability of Prolactin (PRL) and Prolactin Receptor (PRLR) genes in the Italian Mediterranean river buffalo / Cosenza, Gianfranco; Apicella, Elisa; Pauciullo, A.; Rubessa, Marcello; Palmieri, N.; DI BERARDINO, Dino; Ramunno, Luigi. - 1:(2013), pp. 96-96. (Intervento presentato al convegno 10th World Buffalo Congress and the 7th Asian Buffalo Congress tenutosi a Phuket, Thailand nel 6th - 8th May 2013).
Genetic variability of Prolactin (PRL) and Prolactin Receptor (PRLR) genes in the Italian Mediterranean river buffalo.
COSENZA, GIANFRANCO;APICELLA, ELISA;Rubessa, Marcello;DI BERARDINO, DINO;RAMUNNO, LUIGI
2013
Abstract
In mammals, the hormone prolactin (PRL) is best known for its role in the regulation of lactation (Lee et al. 2007). PRL affects multiple reproductive and metabolic functions through its receptors (PRLR), characterized by the ability to activate Janus kinase 2 and signal transducer and activator of transcription (Fleenor et al. 2006). PRL is an anterior pituitary peptide hormone involved in many endocrine activities essential for reproductive success (Vaclavicek et al. 2006). Several polymorphic sites have been detected within PRL and PRLR genes, and significant associations among their variants with milk production traits have been described in dairy cattle (Alfonso et al. 2012; Zhang et al. 2008). PRL (EMBL EF054878) and PRLR (EMBL GQ339914) genes consist of 5 and 9 exons, coding for a protein of 219 and 581 amino acids, respectively. A partial sequencing of PRL exon 5 and PRLR exon 9 performed on 10 Italian Mediterranean river buffaloes allowed us to identify 1 SNP for PRL (C108→T, numbering from the 1st nt of exon 5) and 7 SNPs for PRLR (G128→A, C374→T, G517→A, C520→A, C622→T, G626→A and T707→C, numbering from the 1st nt of exon 9). The PRL SNP is silent (Leu202) as well as 626 (Ala494) and 707 (Asp521) PRLR SNPs. The other 5 PRLR SNPs are responsible of the following amino acid changes: His328→Arg, Ala410→Val, Asp458→Asn, Gln459→Lys and Thr493→Met. 574 buffaloes of several farms in Salerno province (South Italy) were genotyped in out-sourcing (http://kbioscience.co.uk) for 108 PRL and 128 PRLR SNPs. The genotype distribution of investigated population was 10 C/C, 122 C/T and 442 T/T (frequency of T allele 0.87) for PRL and 9 G/G, 108 G/A and 457 A/A for PRLR (frequency of A allele 0.89). For both SNPs, the investigated population was in Hardy–Weinberg equilibrium. Such polymorphisms could represent useful genetic markers for association studies with quali-quantitative milk characteristics, but further studies are needed to evaluate their potential use.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
