title: The porcine TBC1D1 gene: mapping, SNP identification, and association study with meat, carcass and production traits in Italian heavy pigs.
abstract: TBC1D1 [TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1] is a Rab-GTPase-activating related protein implicated in regulating the trafficking of glucose transporter 4 (GLUT4 or SLC2A4) storage vesicles to the cell surface in response to insulin and AMPK-activating stimuli in skeletal muscle. Mutations in the human and mouse TBC1D1 genes confer risk of obesity or leanness. We identified five single nucleotide polymorphisms (SNPs) in the porcine TBC1D1 gene. One of them (FN677935:g.219G>A) was genotyped either by high resolution melting and PCR-RFLP analyses to study allele frequencies in a few pig breeds and evaluate association with meat production and carcass traits in five groups of sib-tested pigs of Italian Large White and Italian Duroc breeds. The g.219G>A SNP was associated (P < 0.05) with ham weight, back fat thickness and lean cuts content in Italian Large White and with visible intermuscular fat in Italian Duroc pigs.
authors: DIPROVAL, Sezione di Allevamenti Zootecnici, Faculty of Agriculture, University of Bologna, Via F.lli Rosselli 107, 42100, Reggio Emilia, Italy. luca.fontanesi@unibo.it
authors: Luca
authors: L
authors: Fontanesi
authors: Michela
authors: M
authors: Colombo
authors: Lucia
authors: L
authors: Tognazzi
authors: Emilio
authors: E
authors: Scotti
authors: Luca
authors: L
authors: Buttazzoni
authors: Stefania
authors: S
authors: Dall'Olio
authors: Roberta
authors: R
authors: Davoli
authors: Vincenzo
authors: V
authors: Russo
mesh_terms: D000483:Alleles; D000818:Animals; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics / Q000378:metabolism*; D005787:Gene Frequency; D005838:Genotype; D007558:Italy; D008297:Male; D008954:Models, Biological; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D013552:Swine
chemical_list: D020690:GTPase-Activating Proteins; C526441:TBC1D1 protein, human