Premium
Erratum: 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)14:1<92::aid-humu24>3.0.co;2-#
Subject(s) - biology , intron , germline , somatic cell , genetics , germline mutation , splice site mutation , splice , rna splicing , mutation , computational biology , gene , rna
Aberrant hypoxanthine phosphoribosyltransferase (HUGO‐approved gene symbol HPRT1; MIM# 308000) RNA 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 epi‐thelial cells that disrupt HPRT1 intron 1 splicing and lead to the inclusion of intron 1 sequence in mature mRNA. Analysis of these mutations and of 14 additional HPRT1 intron 1 inclusion mutations provides an explanation for use of a common, cryptic intron 1 splice donor site by all 16 mutations. Hum Mutat 14:92, 1999. © 1999 Wiley‐Liss, Inc.