Erratum: Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site
Communicated by: Daniel F. Schorderet
Online Citation: Human Mutation, Mutation in Brief #259 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/259.pdf
Publisher's Note: An incorrect version of this article was published as Mutation in Brief #246, 1999. This is the corrected version.
Abstract
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.
