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

Citation
I. Smyth et al., Isolation and characterization of human Patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32, HUM MOL GEN, 8(2), 1999, pp. 291-297
Citations number
24
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN MOLECULAR GENETICS
ISSN journal
09646906 → ACNP
Volume
8
Issue
2
Year of publication
1999
Pages
291 - 297
Database
ISI
SICI code
0964-6906(199902)8:2<291:IACOHP>2.0.ZU;2-4
Abstract
mutations of the human Patched gene (PTCH) have been identified in individu als with the nevoid basal cell carcinoma syndrome (NBCCS) as well as in spo radic basal cell carcinomas and medulloblastomas, We have isolated a homolo gue of this tumour suppressor gene and localized it to the short arm of chr omosome 1 (1p32.1-32.3). Patched 2(PTCH2) comprises 22 coding exons and spa ns similar to 15 kb of genomic DNA, The gene encodes a 1203 amino acid puta tive transmembrane protein which is highly homologous to the PTCH product. We have characterized the genomic structure of PTCH2 and have used single-s tranded conformational polymorphism analysis to search for mutations in PTC H2 in NBCCS patients, basal cell carcinomas and in medulloblastomas, To dat e, we have identified one truncating mutation in a medulloblastoma and a ch ange in a splice donor site in a basal cell carcinoma, suggesting that the gene plays a role in the development of some tumours.