Naslov
Investigation of PTCH1 promoter mutations and polymorphisms

Autori
Musani, Vesna ; Sabol, Maja ; Car, Diana ; Ozretic, Petar ; Levanat, Sonja

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Eur J Hum Genet / Van Ommen, G-J B - Hampshire : Nature publishing group, 2010, 190-191

Skup
European Human Genetics Conference 2010

Mjesto i datum
Göteborg, Švedska, 12.06.2010. - 15.06.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
PTCH1; promoter

Sažetak
PTCH1 is a tumor suppressor gene, located at 9q22.3, encoding a 12-pass transmembrane glycoprotein, that acts as an antagonist in the Hedgehog signaling pathway. PTCH1 gene has 23 coding exons and several alternative forms of exon 1. PTCH1 is often mutated in Gorlin syndrome and various tumors, basal cell carcinomas in particular. Gorlin syndrome is a rare autosomal dominant disorder characterized with multiple basal cell carcinomas (BCCs), meduloblastomas, meningiomas, ovarian fibromas, jaw cysts, different developmental abnormalities, such as craniofacial alterations, bifid ribs, and polydactyly and syndactyly. Basal cell carcinoma (BCC) of the skin, the most common human cancer, shows a continuously increasing incidence, occurring predominantly on sun-exposed skin of elderly fair-skinned people. Several tumor suppressor genes and oncogenes have been implicated in the pathogenesis of BCCs, and most of them are members of the Hedgehog signaling pathway. In our previous research we discovered several new PTCH1 mutations and polymorphisms located in promoter region of exon 1b. Two new mutations: c.-892_-891CC>TT and c.-808C>T were discovered in BCCs and , new polymorphism c.-1184G>A was found in screening of Gorlin syndrome samples, healthy controls, BCCs and ovarian tumors. Additionally, two new alleles with 5 and 6 CGG repeats were discovered in the CGG repeat polymorphism in the 5’UTR region. We are continuing this research with the functional impact of these mutations and polymorphisms on the promoter activity and consequently on PTCH1 role in the pathway.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA