CSB Cross Appointed Faculty
Patricia Dahia, M.D., Ph.D.Assistant Professor
University of Sao Paulo, Brazil, PhD 1994
Federal University of Paraiba, MD 1988
Department of Medicine and Cellular & Structural Biology, UTHSCSA
San Antonio Cancer Institute
Dr. Dahia joined the UTHSCSA faculty in August 2005 in the Department of Medicine with a cross appointment in the Department of Cellular and Structural Biology.
We use genomics-based approaches to study the genetics of cancer with focus on characterizing interactions between oncogenic pathways and the identification of novel cancer-related genes. Our research model is a hereditary neural crest-derived tumor known as pheochromocytoma or paraganglioma. These tumors are highly vascular, catecholamine-producing neoplasms that have been fundamental in providing insights into more common cancer forms and, because of their genetic heterogeneity, have served as sources for discovery of novel oncogenes and tumor suppressor genes. Using integrative genomic approaches, we recently identified a novel pheochromocytoma susceptibility gene, TMEM127, which functions as a classic tumor suppressor gene. This gene encodes for a transmembrane protein of unknown function.
Main research lines in the lab are related to:
- Characterizing the function of the novel tumor suppressor gene TMEM127, using in vivo (recently developed mouse model) and in vitro approaches with focus on TMEM127 involvement in mTOR signaling and endosomal function;
- Discovery of novel cancer genes using genomic and next-generation sequencing strategies, exploiting an available databank of well-annotated tumor samples;
- Identifying translational correlates of genetically defined tumor types that might guide the design of personalized care strategies for cancer patients.
Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL. (2010) Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA. 2010 Dec 15;304(23):2611-9.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet. 2010 Mar;42(3):229-33.
Yao L, Barontini M, Niederle B, Jech M, Pfragner R, Dahia PL. (2010) Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas. J Clin Endocrinol Metab. 2010 Mar;95(3):1469-72.
Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr. (2008) The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev. 2008 Apr 1;22(7):884-93.
Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SP, Nosé V, Li C, Stiles CD. (2005)
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet. 2005 Jul;1(1):72-80.