Tayfun Özçelik, M.D.
Professor of Human Genetics
Mailing Address
Bilkent University
Faculty of Science, B Building
Department of Molecular Biology and Genetics
06800 Ankara, TURKEY
Office
Science B 238
Telephone
+90-312-290 21 39
Fax
+90-312-266 50 97
tozcelik[at]bilkent[dot]edu[dot]tr
Professional Snapshot
Research Focus
* Identification of inherited gene mutations
* Neurodevelopmental disorders
* X-chromosome inactivation and autoimmunity
* Genetic predisposition to cancer
Academic Degrees and Employment
Education
* Prof. – Bilkent University 2004
* Assoc. Prof. Genetics – Istanbul University 1993
* Assist. Prof. Genetics – Istanbul University 1992
* Specialist in Medical Genetics 1990
* M.D. Istanbul University 1986 (Diploma No: 18497-21965)
Employment
* 1995-present Professor of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey
* 1998-2000 Deputy Director BilGen, Bilkent University, Ankara, Turkey
* 1993-1995 Associate Professor and Head of the Dept. of Genetics Institute for Experimental Medicine Istanbul University, Istanbul, Turkey
* 1992-1993 Assistant Professor, Head of the Dept. of Genetics, and Vice-Director of the Institute for Experimental Medicine Istanbul University, Istanbul, Turkey
* 8/1990 Specialty in Medical Genetics Dissertation “SYP1 ve SYP2 genlerinin kromozomal lokalizasyonlari” Uta Francke, Stanford University
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Graduate & Fellowship Program Affiliations
Scientific Focus
Research Interests
The focus of research in our laboratory is characterization of mutations and mechanisms that lead to genetic disorders in humans. In the past (Francke Lab.), we determine the chromosomal localization of cloned genes in human and mouse to identify the molecular basis of inherited diseases by candidate gene approach. We also mapped a form of spastic paraplegia segregating in a large Turkish kindred to Xq11. Determination of disease causing gene mutations is instrumental in making precise genotype-phenotype correlation, and also gives important insight into the function of the gene. Behçet’s disease is a systemic vasculitis associated with venous thrombosis. Our laboratory identified coagulation factor V Leiden and prothrombin gene mutations as important risk factors that contribute to the development of venous thrombosis in Behçet’s disease. Characterization of genetic alterations that lead to tumorigenesis is another focus of research in our laboratory. We are determining the spectrum of germ-line BRCA1 and BRCA2 gene mutations in hereditary breast/ovarian cancer. We also study inherited genetic susceptibility factors in sporadic cancers by determining the allele and genotype frequencies of various drug metabolizing enzymes such as GSTM1, GSTT1, GSTP1, and NAT2 using bladder cancer and breast cancer as model diseases. Lastly, we are working on a neurodevelopmental disorder named Rett syndrome. Conducting these experiments is laborious but ultimately allows the identification of disease causing genes and pathogenetically relevant mutations. In fact we have identified the phenotypic consequences of a homozygous germ-line tumor suppressor gene mutation namely MLH-1 deficiency in human. Further experiments can then be designed to deternine the expression patterns, gene regulation, and function; to understand the basis of gene’s malfunction in disease states; and to devise diagnostic tests and rational treatment strategies.
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Publications
* L.E. Kolb, Z. Arlier, C. Yalcinkaya, A.K. Ozturk, J.A. Moliterno, O. Erturk, F. Bayrakli, B. Korkmaz, K. Bilguvar, M.L. DiLuna, K. Yasuno, T. Ozcelik, B. Tuysuz, M.W. State, M. Gunel, “Novel VLDLR microdeletion identified in two turkish siblings with pachygyria and pontocerebellar atrophy,” accepted for publication in Neurogenetics PubMed
* T. Ozcelik, “X chromosome inactivation and female pred,sposition to autoimmunity,” accepted for publication in Clinical Reviews in Allergy & Immunology PubMed
* E. Uz, L.S. Loubiere, V.K. Gadi, Z. Ozbalkan, J. Stewart, J.L. Nelson, T. Ozcelik, “Skewed X-chromosome inactivation in scleroderma,” accepted for publication in Clinical Reviews in Allergy & Immunology PubMed
* G. Chabchoub, E. Uz, A. Maalej, C.A. Mustafa, A. Rebai, M. Mnif, Z. Bahloul, N.R. Farid, T. Ozcelik, H. Ayadi, “Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases,” Arthritis & Rheumatism, vol. 11, pp. 106-1–8 (2009) PubMed
* E. Uz, C. Mustafa, R. Topaloglu, Y. Bilginer, A. Dursun, O. Kasapcopur, S. Ozen, A. Bakkaloglu, T. Ozcelik, “Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis,” Arthritis & Rheumatism, vol. 60, pp. 3410-3412 (2009) PubMed
* Y. Kaplan, I. Vargel, T. Kansu, B. Akin, E. Rohmann, S. Kamaci, E. Uz, T. Ozcelik, B. Wollnik, N.A. Akarsu, “Skewed X-inactivation in an X-linked Nystagmus Family Resulted From a Novel, p.R229G, Missence Mutation in the FRMD7 Gene,” British J of Ophthalmology, vol. 92, pp. 135-141 (2008) PubMed
* T. Ozcelik, N. Akarsu, E. Uz, S. Caglayan, S. Gulsuner, O.E. Onat, M. Tan, U. Tan, “Reply to Herz et al. And Humprey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadruprdal locomotion,” Proceedings of National Academy of Sciences USA, vol. 105, pp. 32-33 (2008) PubMed
* T. Ozcelik, N. Akarsu, E. Uz, S. Caglayan, S. Gulsuner, O.E. Onat, M. Tan, U. Tan, “Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans,” Proceedings of National Academy of Sciences USA, vol. 105, pp. 4232-4236 (2008) PubMed
* V. Plagnol, E. Uz, C. Wallace, H. Stevens, D. Clayton, T. Ozcelik, J.A. Todd, “Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses,” Plos One, vol. 3, pp. 2966 (2008) PubMed
* O. Hatirnaz, U. Ure, C. Ar, C. Akyerli, T. Sosyal, B. Ferhanoglu, T. Ozcelik, U. Ozbek, “The SOCS-1 gene methylation in chronic myleoid leukemia patients,” American J of Hematology, vol. 82, pp. 729-730 (2007) PubMed
* T. Ozcelik, “To the editor: X-linked clonality testing and autoimmune diseases,” Blood, vol. 110, pp. 2769 (2007) PubMed
* E. Uz, I. Dolen, A.R. Al, T. Ozcelik, “Extremely skewed X-chromosome inactivation in pre-eclampsia,” Human Genetics, vol. 121, pp. 101-105 (2007) PubMed
* S. Bagislar, I. Ustuner, B. Cengiz, F. Soylemez, C.B. Akyerli, S. Ceylaner, G. Ceylaner, A. Acar, T. Ozcelik, “Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion,” Australian New Zealand J of Obstetrics Gynaecology, vol. 46, pp. 384-387 (2006) PubMed
* M. Braunstein, T. Ozcelik, S. Bagislar, V. Vakil, E.L. Smith, K. Dai, C.B. Akyerli, O.A. Batuman, “Endothelial progenitor cells display clonal restriction in multiple myeloma,” BMC Cancer, vol. 6, pp. 161 (2006) PubMed
* B. Karahalil, N.A. Kocabas, T. Ozcelik, “DNA repair gene polymorphisms and bladder cancer susceptibility in a Turkish population,” Anticancer Research, vol. 26, pp. 4955-4958 (2006) PubMed
* O.E. Onat, M. Tez, T. Ozcelik, G.A. Toruner, “MDM2 T309G polymorphism is associated with bladder cancer,” Anticancer Research, vol. 26, pp. 3473-3475 (2006) PubMed
* T. Ozcelik, E. Uz, S. Bagislar, C.A. Mustafa, A. Gursoy, N. Akarsu, G. Toruner, N. Kamel, S. Gullu, “Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity,” European J of Human Genetics, vol. 14, pp. 791-797 (2006) PubMed
* C.B. Akyerli, M. Beksac, M. Holko, M. Frevel, K. Dalva, U. Ozbek, E. Soydan, M. Ozcan, G. Ozet, O. Ilhan, G. Gurman, H. Akan, B.R.G. Williams, T. Ozcelik, “Expression of IFITM1 in chronic myeloid leukemia patients,” Leukemia Research, vol. 29, pp. 283-6 (2005) PubMed
* I. Buyukderim-Ozcelik, T. Ozcelik, “Science flourishes in a secular democracy,” Nature, vol. 433, pp. 355 (2005) PubMed
* Z. Ozbalkan, S. Bagislar, S. Kiraz, C.B. Akyerli, H.T.E. Ozer, S. Yavuz, A.M. Birlik, M. Calguneri, T. Ozcelik, “Skewed X-chromosome inactivation in blood cells of women with scleroderma,” Arthritis & Rheumatism, vol. 52, pp. 1564-1570 (2005) PubMed
* H. Zhang, V. Vakil, M. Braunstein, E.L.P. Smith, J. Maroney, L. Chen, K. Dai, J. Berenson, M. Hussain, U. Klueppelberg, A.J. Norin, H.O. Akman, T. Ozcelik, O.A. Batuman, “Circulation Endothelial Progenitor Cells in Multiple Myeloma: Implications and Significance,” Blood, vol. 105, pp. 3286-3294 (2005) PubMed
* Sevinc A, Yannoukakos D, Konstantopoulou I, Manguoglu E, Luleci G, Colak T, Akyerli C, Colakoglu G, Tez M, Sayek I, Gerassimos V, Nasioulas G, Papadopoulou E, Florentin L, Kontogianni E, Bozkurt B, Kocabas NA, Karakaya AE, Yulug IG, Ozcelik T. Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer. Anticancer Res. 2004 Jul-Aug;24(4):2547-9. PubMed
* Tez M, Gocmen E, Ozcelik T. HER2 and proliferation of wound-induced breast carcinoma. Lancet. 2003 Nov 1;362(9394):1503. PubMed
* Akgul H, Tez M, Unal AE, Keskek M, Sayek I, Ozcelik T. Echinococcus against cancer: why not? Cancer. 2003 Nov 1;98(9):1999-2000. PubMed
* Akyerli CB, Ozbek U, Aydin-Sayitoglu M, Sirma S, Ozcelik T. Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias. J Cancer Res Clin Oncol. 2003 Oct;129(10):604-5. PubMed
* Manguoglu AE, Luleci G, Ozcelik T, Colak T, Schayek H, Akaydin M, Friedman E. Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients. Hum Mutat. 2003 Apr;21(4):444-5.
* Ozcelik T. Uncovering the complex mysteries of mosaicism. Nature. 2002 Jun 6;417(6889):588.
* Topcu M, Akyerli C, Sayi A, Toruner GA, Kocoglu SR, Cimbis M, Ozcelik T. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet. 2002 Jan;10(1):77-81.
* Sullivan A, Yuille M, Repellin C, Reddy A, Reelfs O, Bell A, Dunne B, Gusterson BA, Osin P, Farrell PJ, Yulug I, Evans A, Ozcelik T, Gasco M, Crook T. Concomitant inactivation of p53 and Chk2 in breast cancer. Oncogene. 2002 Feb 21;21(9):1316-24.
* Toruner GA, Ucar A, Tez M, Cetinkaya M, Ozen H, Ozcelik T. P53 codon 72 polymorphism in bladder cancer–no evidence of association with increased risk or invasiveness. Urol Res. 2001 Dec;29(6):393-5.
* Toruner GA, Akyerli C, Ucar A, Aki T, Atsu N, Ozen H, Tez M, Cetinkaya M, Ozcelik T. Polymorphisms of glutathione S-transferase genes (GSTM1, GSTP1 and GSTT1) and bladder cancer susceptibility in the Turkish population. Arch Toxicol. 2001 Oct;75(8): 459-64.
* Ustun C, Arat M, Celebi H, Akan H, Ilhan O, Ozcelik T, Burgess RE, Koc H. Extramedullary relapse following allogeneic stem cell transplantation in acute promyelocytic leukemia: the role of ATRA. Haematologica. 2001 Oct;86(10):E31.
* Topaloglu R, Akierli C, Bakkaloglu A, Aydintug O, Ozen S, Besbas N, Ozcelik T. Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus. Clin Rheumatol. 2001;20(4):259-61.
* Beksac M, Ma M, Akyerli C, DerDanielian M, Zhang L, Liu J, Arat M, Konuk N, Koc H, Ozcelik T, Vescio R, Berenson JR. Frequent demonstration of human herpesvirus 8 (HHV-8) in bone marrow biopsy samples from Turkish patients with multiple myeloma (MM) . Leukemia. 2001 Aug;15(8):1268-73.
* Mazoyer S, ? Özçelik T et al. The BRCA1 Exon 13 Duplication Screening Group. “The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations”. Am J Hum Genet 67: 207-212 (2000).
* Özdag H, Tez M, Sayek I, Müslümanoglu M, Tarcan O, Içli F, Öztürk M,Özçelik T. “Germ-line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients”. Eur J Cancer 36: 2076-2082 (2000).
* Ustun C, Arslan O, Beksac M, Koc H, Gurman G, Ozcelik T, Yilmaz B, Ilhan O, Akan H, Ozcan M, Demirer T, Uysan A, Konuk N, Arat M, Dilek I, Celebi H, Coskun HS. “A retrospective comparison of allogeneic peripheral blood stem cell and bone marr ow transplantation results from a single center: a focus on the incidence of graft-vs.- host disease and relapse”. Biol Blood Marrow Transplant (1): 28-35 (1999).
* Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Ozturk M. “Human MLH1 deficiency predisposes to hematological malignancy and Neurofibromatosis type 1″. Cancer Res 59 : 290-293 (1999).
* Gul A, Aslantas AB, Tekinay T, Konice M, Ozcelik T. “Procoagulant mutations and venous thrombosis in Behçet’s disease”. Rheumatology 38: 1298-1299 (1999).
* Vural B, Atlioglu E, Kolusayin Ö, Togan I, Büyükdevrim S, Özçelik T. “Turkish population data on the HLA-Da, LDLR, GYPA, HBGG, D7S8, and GC loci”. Int J Legal Med 111 (1): 43-45 (1998).
* Hatemi AC, Cine N, Ozcelik T. “Allele and genotype frequencies of the insertion/deletion polymorphism in the human angiotensin converting enzyme in the Turkish population”. Turkish J Med 27: 205-208 (1997).
* Ozbek U, Vural B, Kalayoglu S, Soysal T, Bilgen H, Yavuz S, Anak S, Sargin D, Gedikoglu G, Ferhanoglu B, Akoglu T, Tangun Y, Ozcelik T. “Evaluation of chimerism with DNA polymorphisms in the Turkish population”. Turkish J Ped 39: 303-312 (1997).
* Deymeer F, Serdaroglu P, Poda M, Gulsen-Parman Y, Ozcelik T, Ozdemir C. “Segmental distribution of muscle weakness in SMAIII: implications for deterioration in muscle strength with time”. Neuromuscul Disord 7 (8): 521-528 (1997).
* Kyriallis K, Christodoulou K, Al-Shehab A, Barba V, Mylonas Y, Mavromatis J, Serdaroglu P, Ozcelik T, Deymeer F, Ozdemir C, Middleton LT. “Familial Infantile Myasthenia in Eastern Mediterranean Countries. Neurology 46: P04.089 (1996).
* Gül A, Özbek U, Öztürk C, Inanç M, Koniçe M, Özçelik T. “Coagulation factor V mutation and the development of venous thrombosis in Behcet’s disease”. Brit J Rheum 35: 1178-1180 (1996).