title: Allelic variation of the porcine alpha-1,3-galactosyltransferase 1 (GGTA1) gene.
abstract: The alpha-1,3-galactosyltransferase 1 enzyme (GGTA1) produces the alpha-Gal epitopes, responsible for pig-to-human hyperacute xenograft rejection. Recently, efforts have been directed at inactivating the porcine GGTA1 gene in order to reduce hyperacute rejection. As very little is known about the genetic variability of this key gene among pig breeds, we investigated the variation in its nucleotide sequence, by amplification of the entire coding region with the use of polymerase chain reaction followed by DNA sequencing. Eight commercial pig populations were analysed and 17 single nucleotide polymorphisms (SNPs) were detected: 11 in intronic regions and 6 in the 3' untranslated region (UTR). No SNPs change the encoded protein; however, 8 of these SNPs may alter the transcriptional regulation and pre-mRNA splicing of GGTA1.
authors.affiliation: Genus plc, Genus Cambridge Research Laboratory, University of Cambridge, Department of Pathology, Cambridge, UK.
authors.forename: Andy
authors.initials: A
authors.lastname: Day
authors.forename: Dominique
authors.initials: D
authors.lastname: Rocha
mesh_terms: D000483:Alleles; D000818:Animals; D005700:Galactosyltransferases / Q000235:genetics*; D005786:Gene Expression Regulation / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D007438:Introns / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012322:RNA Precursors / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics; D013552:Swine / Q000235:genetics*; D014158:Transcription, Genetic; D014183:Transplantation, Heterologous
chemical_list: D012322:RNA Precursors; D005700:Galactosyltransferases; C530267:alpha-1,3-galactosyltransferase 1, porcine