Premium
Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site
Author(s) -
Colgin Lorel M.,
Hackmann Alden F.M.,
Monnat Raymond J.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:6<504::aid-humu15>3.0.co;2-6
Subject(s) - exon , biology , genetics , missense mutation , intron , nonsense mutation , gene , splice site mutation , mutation , transversion , splice , rna splicing , microbiology and biotechnology , alternative splicing , rna
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. Hum Mutat 13:504–505, 1999. © 1999 Wiley‐Liss, Inc.