Article
Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes.
Diabetologia - 1 Sept 2002
Mitchell S M S, Vaxillaire M, Thomas H, Parrizas M, Benmezroua Y, Costa A, Hansen T, Owen K R, Tuomi T, Pirie F, Ryffel G U, Ferrer J, Froguel P, Hattersley A T, Frayling T M
Abstract excerpt
AIMS/HYPOTHESIS: The recently identified alternative promoter (P2) of HNF-4 alpha is the major HNF-4 alpha transcription start site in pancreatic beta cells. The significance of the P2 promoter was shown by the identification of a mutation in the IPF-1 binding site of the alternative promoter which cosegregated with diabetes in a large MODY family. The role of the P2 promoter and the associated alternative exon 1...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.