Journal of Applied Genetics 49(1), 2008, pp. 75-79
Allelic variation of the porcine α-1,3-galactosyltransferase 1 (GGTA1) gene
Andy Day, Dominique Rocha
Abstract: The alpha-1,3-galactosyltransferase 1 enzyme (GGTA1) produces the α-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.
Key words: alternative splicing, GGTA1, pig breeds, porcine, single nucleotide polymorphism, transcription factor binding site.
Correspondence: D. Rocha, UMR1061, INRA - Universite de Limoges, Faculte des Sciences, 123 Avenue Albert Thomas, 87060 Limoges, France; e-mail: email@example.com
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