Title |
Isolation and Characterization of Human Patched 2 (PTCH2), a Putative Tumour Suppressor Gene in Basal Cell Carcinoma and Medulloblastoma on Chromosome 1p32
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Published in |
Human Molecular Genetics, February 1999
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DOI | 10.1093/hmg/8.2.291 |
Pubmed ID | |
Authors |
Ian Smyth, Monica A. Narang, Tim Evans, Cornelia Heimann, Yusuke Nakamura, Georgia Chenevix-Trench, Torsten Pietsch, Carol Wicking, Brandon J. Wainwright |
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 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. |
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