Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site. Mutations in brief no. 246. Online.
Aberrant hypoxanthine phosphoribosyltransferase (HUGO-approved gene symbol HPRT1; MIM# 308000) mRNA splicing, promoted by splice site mutation or loss, is a common mechanism for loss of the purine salvage enzyme HPRT1 from human cells. We report here two in vivo somatic HPRT1 mutations in human kidney tubular epithelial cells that disrupt HPRT1 intron 1 splicing and lead to the inclusion of intron 1 sequence. We propose an explanation for the use of a common, cryptic intron 1 splice donor site by these two mutations, and by 14 additional human HPRT1 mutations that lead to aberrant splicing with the incorporation of intron 1 sequence into mRNA.
University of Washington, Department of Pathology, Seattle 98195-7705, USA.
L M
LM
Colgin
A F
AF
Hackmann
R J
RJ
Monnat
D017398:Alternative Splicing; D004847:Epithelial Cells / Q000378:metabolism*; D018095:Germ-Line Mutation; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007438:Introns; D007668:Kidney / Q000378:metabolism*; D009154:Mutation
D007041:Hypoxanthine Phosphoribosyltransferase