Human Molecular Genetics, Vol 8, 291-297, Copyright © 1999 by Oxford University Press
I Smyth, MA Narang, T Evans, C Heimann, Y Nakamura, G Chenevix-Trench, T Pietsch, C Wicking and BJ Wainwright
Mutations of the human Patched gene ( PTCH ) have been identified in
individuals with the nevoid basal cell carcinoma syndrome (NBCCS) as well
as in sporadic basal cell carcinomas and medulloblastomas. We have isolated
a homologue of this tumour suppressor gene and localized it to the short
arm of chromosome 1 (1p32.1-32.3). Patched 2 ( PTCH2 ) comprises 22 coding
exons and spans approximately 15 kb of genomic DNA. The gene encodes a 1203
amino acid putative transmembrane protein which is highly homologous to the
PTCH product. We have characterized the genomic structure of PTCH2 and have
used single-stranded conformational polymorphism analysis to search for
mutations in PTCH2 in NBCCS patients, basal cell carcinomas and in
medulloblastomas. To date, we have identified one truncating mutation in a
medulloblastoma and a change in a splice donor site in a basal cell
carcinoma, suggesting that the gene plays a role in the development of some
tumours.
ARTICLES
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32
Centre for Molecular and Cellular Biology and Department of Biochemistry, Research Road, University of Queensland, Brisbane 4072, Australia.
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