Department of Human Genetics
Elizabeth M. Petty
Associate Dean of Student Programs; Professor of Human Genetics; Professor of Internal Medicine; Medical Director, Genetic Counseling Training Program; Attending Physician, Genetics Clinic, Department of Internal Medicine
5220 MSRB III
1150 W. Medical Center Drive
Ann Arbor, MI 48109 -638
Phone: 734-763-2532
Fax: 734-647-7979
Email: epetty@umich.edu

Research Interests

My research interests are broad. They are rooted in basic molecular questions, clinical experiences, and psychosocial theories. They reflect my desire to elucidate genetic mechanisms important in the development of human disease in the hopes that such knowledge will ultimately help us develop better strategies to reduce disease associated morbidity and mortality, as well as my interest in exploring how advances in genetics may impact individuals and societies more broadly. The primary research efforts of my molecular genetics/cancer biology laboratory are directed toward characterizing molecular alterations underlying aberrant cell cycle regulation and cell division that are critical in the malignant progression of solid tumors. We are currently engaged in a handful of different but related projects that stem from this primary interest. One major ongoing project involves the functional analysis of a human septin gene important in cell division, SEPT9/MSF, which we cloned in our laboratory from a region of allelic imbalance on human chromosome 17 in breast and ovarian tumors. We are actively developing and utilizing in vitro model systems to help us understand how altered SEPT9 isoform expression, as observed in cancer cells, contributes to abnormal cell division and oncogenesis. We have demonstrated that other cell cycle genes, including CHFR and some mitotic spindle checkpoint genes, have altered expression associated with abnormal cell cycle progression in cancer cells, and are analyzing their roles in G2/M and/or cytokinesis checkpoint regulation. Research stemming directly from our Medical Genetics Clinic includes phenotypic and molecular characterization of both newly recognized syndromes and poorly understood genetic conditions. In addition, I have been collaboratively investigating how people understand and use genetic information and technology, not only in health care choices and reproductive decisions, but also, regarding how their understanding (or misunderstanding) of genetic concepts and information shapes their perceptions about other individuals and groups of people. In particular, we are examining how genetic beliefs can influence one's opinions on various social issues and how such beliefs may shape public policy that could negatively impact society. Finally, I remain interested in research on the ethical and cost-effective delivery of clinical genetic services.

Honors and Awards

2006 Named one of America's Top Pediatricians by the Consumer's Research Council of America

2004 Named one of the areas "Top Doctors" in Internal Medicine by Detroit Hour Magazine

2004 NSF Advance - Elizabeth Caroline Crosby Fund Award, University of Michigan

2001 Medical School Component I Teaching Award of Excellence, University of Michigan Medical School

2000 Regent's Public Service Award, University of Michigan

1999 Gender Equity Award in Medical Student Teaching, American Medical Women's Association, University of Michigan Medical School

1997 Traditions of Leadership Award, University of Michigan Medical School

1997 AMA Physician Recognition Award

1996 Michigan Agenda for Women, Career Development Award

1995 KO8 - Clinical Investigator Award "Isolation of a chromosome 17q25 gene involved in breast cancer"

1986 Janet M. Glassgow Memorial Achievement Citation

1985 Dr. TA Leonard Award for Obstetrics and Gynecology

1985 Harry A. Waisman Award for Excellence in Pediatrics

1985 Alpha Omega Alpha

1982-86 Medical School Honor Roll/ Dean's List

1981 Kappa Gamma Pi Honor Society

Education

1993 Yale University, New Haven, CT, Molecular Genetics Fellowship

1991 Yale University, New Haven, CT, Clinical Genetics Fellowship

1986 University of Wisconsin Medical School, Madison, WI, M.D.

1981 Clarke College, Dubuque, IA, B.A.

Selected Publications

Gonzalez ME, Peterson EA, Privette LM, Loffreda-Wren JL, Kalikin LM, Petty EM. High SEPT9_v1 expression in human breast cancer cells is associated with oncogenic phenotypes. Cancer Res, In press, 2007

Privette LM, Gonzalez ME, Ding L, Kleer CG, Petty EM. Altered expression of the early mitotic checkpoint gene, CHFR, in breast cancers: Implications for tumor suppression. Cancer Res,. 67(13):6064-74. (Epub 2007 Jun 27) 2007

Sheldon JP, Jayaratne TE, Feldbaum MB, CB Dinardo, Petty EM. Implications of Advances in Human Genetics: Blacks? Insights About What Americans Believe. Community Genetics, 10:82-92, 2007

Sheldon JP, Jayaratne TE, Feldbaum MB, Petty EM. Beliefs about the etiology of homosexuality and about the ramifications of discovering its possible genetic origin. Journal of Homosexuality, 52:111-150, 2007.

Cole JR, Jayaratne TE, Cecchi LA, Feldbaum M, Petty EM. Viva la difference? Explanations for perceived gender differences in nurturance. Sex Roles, Online ahead of Print DOI 10.1007/s11199-007-9248-7, 2007

Jayaratne TE, Ybarra O, Sheldon JP, Brown TN, Feldbaum M, Pfeffer CA, Petty EM. White Americans? genetic lay theories of race differences and of sexual orientation: Relationship to prejudice toward blacks and gay men and lesbians. Group Processes Intergroup Relations, 9:77-94, 2006

Chao MM, Levine JE, Ruiz RE, Kohlmann WK, Bower MA, Petty EM, Mody RJ. Malignant triton tumor in a patient with Li-Fraumeni Syndrome and a novel TP53 mutation. Pediatr Blood Cancer, 2005

Jayaratne TE, Ybarra O, Sheldon JP, Brown TN, Feldbaum M, Pfeffer CA, Petty EM. White American's genetic lay theories of race differences and of sexual orientation: Relationship to prejudice toward blacks and gay men and lesbians. Group Processes Intergroup Relations, 9:77-94, 2006

Erson AE, Petty EM. Molecular and genetic events in neoplastic transformation. In: Cancer Epidemiology and Prevention, 3rd edition. Edited by Schottenfeld D and Fraumeni L, Oxford University Press, In press, 2004

Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early onset distal myopathy (MPD1). Am J Human Genet, In press, 2004

Lanie AD, Jayaratne TE, Sheldon JP, Kardia SLR, Anderson ES, Petty EM. Exploring the public understanding of basic genetic concepts. J Genetic Counseling 13(4):305-320. 2004

Erson AE, Petty EM. CHFR-associated early G2/M checkpoint defects in breast cancer cells. Mol Carcinog. 39:26-33. 2004

Hedera P, Petty EM, Bui M, Blaivas M, Fink JK, The second kindred with autosomal dominant distal myopathy linked to chromosome 14q (MPD1): Genetic and clinical analysis. Arch of Neur 60:1321-1325. 2003

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield, S, Cordeiro I, Frund S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Recessive mutations of the chromatin remodeling SNF2 protein SMARCAL1 cause Schimke-immuno-osseous dysplasia. Nat Genet. 30(2):215-20. 2002

Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton, DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 32(1):175-9. 2002

Hedera P, Toriella HV, Petty EM. Novel autosomal dominant mandibulofacial dysostosis with ptosis and facial asymmetry: Clinical description and exclusion of TCOF1. J Med Genet. 39(7):484-8. 2002

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers, PH. Haploinsufficiency for one COL3A1 allele of type III procollagen results in phenotype similar to the vascular form of Ehlers-Danlos syndrome (EDS type IV). Am J Hum Genet. 69(5):989-1001. 2001

Erson AE, Niell BL, DeMers SK, Rouillard JM, Hanash S, Petty EM. Overexpressed genes, ESTs and characterization of distinct amplicons on 17q23 in breast cancer cells. Neoplasia. 3:521-526. 2001

Kalikin LM, Bugeaud EM, Palmbox PL, Lyons RH Jr, Petty EM. Genomic characterization of human SEC14L1 splice variants within a 17q25 candidate tumor suppressor gene region and identification of an intronic expressed sequence tag. Mamm Genome, 12(12):925-9. 2001

Kalikin LM, Sims HL, Petty EM. Genomic and expression analysis of alternatively spliced transcripts of the MLL septin-fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors. Genomics. 63:165-172. 2000

Myrie KA, Azim JN, Neeley CK, Percy MJ, Petty EM. Mutation and expression analysis of BUB1 and BUB1B in breast cancer. Can Letters. 152:193-199. 2000

Percy MJ, Myrie KA, Neeley CK, Azim JN, Ethier SP, Petty EM. Expression and mutational analyses of the human MAD2L1 gene in breast cancer cells. Genes Chromosomes Cancer, 29:356-362. 2000

Martin DM, Probst FJ, Camper SA, Petty EM. Characterization and genetic mapping of a new X-linked deafness syndrome. J Med Genet, 37:836-841, 2000.