Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32

Smyth, I., Narang, M. A., Evans, T. M., Heimann, C., Nakamura, Y., Chenevix-Trench, G., Pietsch, T., Wicking, C. A. and Wainwright, B. J. (1999) Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32. Human Molecular Genetics, 8 2: 291-297. doi:10.1093/hmg/8.2.291


Author Smyth, I.
Narang, M. A.
Evans, T. M.
Heimann, C.
Nakamura, Y.
Chenevix-Trench, G.
Pietsch, T.
Wicking, C. A.
Wainwright, B. J.
Title Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 1460-2083
Publication date 1999-01-01
Year available 1999
Sub-type Article (original research)
DOI 10.1093/hmg/8.2.291
Open Access Status Not yet assessed
Volume 8
Issue 2
Start page 291
End page 297
Total pages 7
Place of publication UK
Publisher Oxford University Press
Language eng
Subject C1
270202 Genome Structure
780105 Biological sciences
Abstract 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 similar to 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.
Keyword Biochemistry & Molecular Biology
Genetics & Heredity
Biochemistry & Molecular Biology
Genetics & Heredity
BIOCHEMISTRY & MOLECULAR BIOLOGY
GENETICS & HEREDITY
Q-Index Code C1
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 114 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 125 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Wed, 11 Jun 2008, 01:46:26 EST