Mark J. Pettenati, Ph.D., FACMG
Associate Professor, Pediatrics/Medical Genetics;
Surgical Sciences/Ophthalmology; Pathology
Director, Cytogenetics and Molecular Cytogenetics Laboratory
Director, Molecular Genetics Laboratory
Director, MSAFP Laboratory and Program
Director, Pediatric Genetics Laboratory
B.S., 1978 St. Bonaventure University
Ph.D., 1983 West Virginia University
Postdoctorate, 1985 Indiana University School of Medicine
Postdoctorate: University of Chicago Medical Center, 1986
Board Certification in Clinical Cytogenetics, 1987
Research Interests
The Cytogenetic Laboratory of WFUSM is one of the largest cytogenetic laboratories in the southeast with expertise in all areas of clinical cytogenetics. Major areas of clinical research include cytogenetic analysis of leukemia subgroups in relation to clinical presentation and balanced and unbalanced chromosome rearrangements and their clinical relevance to gene localization.
We currently have a Molecular Cytogenetic laboratory with cutting edge technology in the field of image analysis. Research in this laboratory uses Fluorescent in situ Hybridization (FISH) and M FISH to perform clinical evaluations, determine chromosome aberrations and rearrangements and perform gene mapping and order. In addition the laboratory has chromosome microdissection ability. Ongoing projects in this laboratory include the application and evaluation of FISH for:
1) Prenatal, postnatal and leukemia diagnosis;
2) gene mapping of Autism, eye development (cornea and Blepharophimosis)
3) microchip array analysis of the dic(9;20) in pediatric ALL
4) detection of the development myelodysplastic syndromes in patients with bone marrow transplantation using FISH
5) determination of syteny groups of primate chromosomes;
6) development and application of molecular cytogenetics for laboratory testing in forensic science.
7) mapping Prostate Cancer Susceptibility Genes using FISH
Selected Publications
Gilbert JR, Kumar A, Newey S, Rao N, Ioannou P, Qiu H, Lin D, Xu P, Pettenati MJ, Pericak-Vance MA. Physical and cDNA Mapping in the DBH Region of Human Chromosome 9q34. Hum Hered 2000;50:151-157.
Sloop KW, Showalter AD, Von Kap-Herr C, Pettenati MJ, Rhodes SJ. Structure of the human LHX3 gene and mapping to the subtelomeric region of chromosome 9. Gene 2000;245:237-243.
Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW Assignment of mimecan gene (OGN) to human chromosome band 9q22 by in situ hybridization. Cytogenet Cell Genet. 2000;88:326-327.
Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW. Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization Cytogenet Cell Genet. 2000;88(3-4):244-245.
Cina SJ, Collins KA, Pettenati MJ, Fitts M. Isolation and identification of female DNA on postcoital penile swabs. Am J Forensic Med Pathol 2000;21:97-100.
Cina MS, Collins KA, Fitts M, Pettenati MJ. Isolation and Identification of Male and Female DNA on a Postcoital Condom. Arch Pathol Lab Med 2000;124:1083-1086.
Collins KA, Cina MS, Pettenati MJ, Fitts M. Identification of Female Cells in Postcoital Penile Swabs Using Fluorescence In Situ Hybridization. Arch Pathol Lab Med 2000;124:1080-1082.
Von Kap-Herr C, Kandala G, Mann S, Hart T, Pettenati MJ, Setaluri V. Assignment of gene encoding GIPC, a RGS-GAIP interacting, PDZ domain-containing protein to human chromosome band 19p13.1 Cytogenet Cell Genet 2000;89:234-235.
Keung Y-K, Pettenati MJ, Cruz JM, Powell BL, Woodruff RD, Buss DH. Bone marrow cytogenetic abnormalities of aplastic anemia. Am J. Hematology Hematology 2001;66:167-171.
Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, Gersen S, White B, Schoonmaker MM. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature Prenatal Diagosis 2001;21:293-301.
Shashi V, Rickheim A, Pettenati MJ. Maternal Homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects. A J Med Genet 2001;100:25-29.
Barlow GM, Chen X-N, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinner NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR.. Down syndrome congenital heart disease: A narrowed region and a candidate gene. Genet Med 2001:3:91-101.
Mrozek K, Prior TW, Edward C, Marcucci G, Carroll AJ, Snyder PJ, Prasad RK, Koduru PRK, Theil DS, Pettenati MJ, Archer KJ, Caligiuri MA, Vardiman JW, Kolitz JE, Larson RA, Bloomfield CD. A comparison of cytogenetic and molecular genetic detection of t(8;21) and inv(16) in a prospective series of adults with de novo acute myeloid leukemia: A Cancer and Leukemia Group B Study. J Clin Oncol 2001:19;2482-2492.
Pettenati MJ, Berry M, Shashi V, Bowen JH, Harper M. Prenatal diagnosis of complete pure trisomy 1q. Prenatal Diag 2001;21:435-440.
Kiser M, McCubrey JA, Steelman LS, Ramage J, Alexander RL, Kucera GL, Pettenati MJ, Willingham MC, Miller MS, Frankel AE. Ongogene-Dependent engraftment of human myeloid leukemia cells in immuosupressed mice, Leukemia 2001; 15:814-818.