Abstract

The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), pits of the palms and soles, keratocysts of the jaw, and a variety of other tumors and developmental abnormalities. The NBCCS gene is located on chromosome 9q22.3; and both familial and sporadic BCCs display loss of heterozygosity for markers in this region. We have previously shown that the NBCCS gene is the human homolog of the Drosophila patched (PTC) gene. Patched is a segment polarity gene, essential for embryonic development. Single-stranded conformation polymorphism analysis and sequencing revealed mutations of PTC in patients with the syndrome and in familial and sporadic basal cell carcinoma (BCC) tumors. PATCHED is the receptor for the HEDGEHOG protein, a morphogen. HEDGEHOG binding releases PATCHED from repression of SMOOTHENED (SMO) a 7-transmembrane protein that initiates the signal. PATCHED is part of a complex feedback pathway in which

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Intramural Research (Z01)
Project #
1Z01BC005652-08
Application #
6160940
Study Section
Special Emphasis Panel (LGD)
Project Start
Project End
Budget Start
Budget End
Support Year
8
Fiscal Year
1997
Total Cost
Indirect Cost

  Institution

Name
National Cancer Institute Division of Basic Sciences
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Lou, Hong; Villagran, Guillermo; Boland, Joseph F et al. (2015) Genome Analysis of Latin American Cervical Cancer: Frequent Activation of the PIK3CA Pathway. Clin Cancer Res 21:5360-70
Boland, Joseph F; Chung, Charles C; Roberson, David et al. (2013) The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing. Hum Genet 132:1153-63
Garrido, Claudia; Santizo, Veronica Giron; Müllers, Petra et al. (2013) Frequency of thiopurine S-methyltransferase mutant alleles in indigenous and admixed Guatemalan patients with acute lymphoblastic leukemia. Med Oncol 30:474
Torimiro, Judith N; Javanbakht, Hassan; Diaz-Griffero, Felipe et al. (2009) A rare null allele potentially encoding a dominant-negative TRIM5alpha protein in Baka pygmies. Virology 391:140-7
Meyer-Lindenberg, A; Kolachana, B; Gold, B et al. (2009) Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans. Mol Psychiatry 14:968-75
Allikmets, Rando; Dean, Michael (2008) Bringing age-related macular degeneration into focus. Nat Genet 40:820-1
Lou, H; Dean, M (2007) Targeted therapy for cancer stem cells: the patched pathway and ABC transporters. Oncogene 26:1357-60
Remsberg, Jarrett R; Lou, Hong; Tarasov, Sergey G et al. (2007) Structural analogues of smoothened intracellular loops as potent inhibitors of Hedgehog pathway and cancer cell growth. J Med Chem 50:4534-8
O'Brien, Thomas R; Kachapati, Kritika; Zhang, Mingdong et al. (2007) HCV infection clearance with functional or non-functional caspase-12. Scand J Gastroenterol 42:416-7
Li, Xing; Gold, Bert; O'hUigin, Colm et al. (2007) Unique features of TRIM5alpha among closely related human TRIM family members. Virology 360:419-33

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