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- Title
A deep intronic mutation in CDKN2A is associated with disease in a subset ofmelanoma pedigrees.
- Authors
Harland, Mark; Mistry, Sushila; Bishop, D.Timothy; Newton Bishop, JuliaA.
- Abstract
Germline mutations of CDKN2A at 9p21have been shown to predispose to disease in melanoma pedigrees worldwide.However, there remains a significant proportion of melanoma pedigreeswith evidence of linkage to 9p21 in which mutations in CDKN2A havenot been detected. Investigation of other potential tumour suppressorgenes at 9p21 and the promotor of CDKN2A has beenunable to explain genetic predisposition to melanoma in these pedigrees.Here we describe a mutation, IVS2-105 A/G, deep in intron2 of CDKN2A, detected in six English melanoma pedigrees.The mutation creates a false GT splice donor site 105 bases 5′ of exon 3 and has been demonstratedto result in aberrant splicing of the mRNA. This is the most commonmutation identified in English families to date. The presence ofthis deep intronic mutation in a relatively large number of kindreds,indicates that it may account for a significant proportion of 9p21-linkedmelanoma pedigrees with no detectable mutations in the coding regionof CDKN2A. In addition, the identification of onedeep intronic mutation in CDKN2A indicates the possibility ofthe existence of other similar splicing mutations located elsewherein the CDKN2A introns.
- Publication
Human Molecular Genetics, 2001, Vol 10, Issue 23, p2679
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/10.23.2679