Cell & Developmental Biology
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Marisa S. Bartolomei, Ph.D.

Professor of Cell and Developmental Biology
Department: Cell and Developmental Biology

Contact information
9-123 Smilow Center for Translational Research
3400 Civic Center Blvd.
Philadelphia, PA 19104-6148
Office: 215-898-9063
Fax: 215-573-6434
B.S. (Biochemistry)
University of Maryland, College Park, MD, 1982.
Ph.D. (Biochemistry)
Johns Hopkins University School of Medicine, Cellular & Molecular Biology Training Program (Dr. Jeffry Corden), 1987.
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Description of Research Expertise

Research Interests

The research in my laboratory focuses on the study of genomic imprinting and X inactivation in mice.

Key words: genomic imprinting, X inactivation, DNA methylation, epigenetics, environment.

Description of Research

One aspect of the research in my laboratory focuses on the study of genomic imprinting in mice. While affecting only a subset of genes in mammals, genomic imprinting results in the unequal expression of the maternal and paternal alleles of a gene. As a consequence, the maternal and paternal genomes are functionally non-equivalent and both are required for normal mammalian development. One imprinted gene, H19, is exclusively expressed from the maternally-derived allele in mice and humans. There are a number of important questions concerning the control of imprinting that are being addressed using the mouse H19 gene. These questions include how and when the inactive and active alleles are differentiated, what sequences designate that a gene is to be imprinted, and what factors function to imprint the gene. Moreover, we are also determining how the environment, including procedures used in Assisted Reproductive Technologies (ART) and endocrine disruptors, affect imprinting and epigenetic gene regulation.

My laboratory also studies the process of X inactivation in mice. X inactivation is the dosage compensation mechanism that female mammals use to silence one X chromosome and to achieve equivalent X-linked expression to males. Certain aspects of this complex multi-step process have been well established, but the molecular and genetic mechanisms controlling this process remain poorly characterized. To isolate factors involved in X inactivation we have employed the following strategies: we have collaborated with Huntington Willard (Duke University) in conducting ENU mutagenesis in the mouse to select for mutations that affect X inactivation; we have participated in studies that assay reactivation of X-linked genes; and we have examined the effects of various mutations and environmental perturbations on X inactivation.

Rotation Projects

1. Analysis (expression, DNA methylation and higher order chromatin structure) of mice harboring mutations at the endogenous H19/Igf2 locus.

2. Examination of the effects of various environmental perturbations on imprinting status, including environmental estrogens and procedures used in Assisted Reproductive Technologies.

3. Examination of noncoding RNAs at the H19/Igf2 locus.

4. Other projects available by speaking with PI.

Lab Personnel

Graduate Students: Rob Plasschaert, Stella Hur, Frances Xin, Jen Myers
Research Associates: Joanne Thorvaldsen, Martha Susiarjo
Postdoctoral Fellow: Jenn Kalish
Postdoctoral Researcher: Eric de Waal, Lisa Vrooman
Research Technician: Christopher Krapp
Undergraduates: Connie Jiang, Erin Fischer, Rachel Mardjuki, Carolyn Lye

Selected Publications

Yohn, N., Bartolomei, M.S. and J. Blendy: Multigenerational and transgenerational inheritance of drug exposure: the effects of alcohol, opiates, cocaine, marijuana and nicotine. Progress in Biophysics and Molecular Biology 118, July 2015.

Xin, F., Susiarjo, M. and M.S. Bartolomei.: Multigenerational and transgenerational effects of endocrine disrupting chemicals: A role for altered epigenetic regulation? Seminars in Cell and Developmental Biology 43: 66-75, July 2015.

Susiarjo, M. and M.S. Bartolomei. : You are what you eat but what about your DNA? Science 345(6198): 733-4, August 2014.

Weaver, J.R. and M.S. Bartolomei : Chromatin regulators of genomic imprinting. Biochim Biophysica Acta 1839(3): 169-77, March 2014.

Plasschaert, R.N. and M.S. Bartolomei. : Genomic imprinting in development, growth, behavior and stem cells. Development 141: 1805-1813, March 2014.

Kalish, J.M., Jiang, C. and M.S. Bartolomei: Epigenetics and imprinting in human disease. International Journal of Developmental Biology 58, 2014.

Barlow, D.P. and M.S. Bartolomei : Genomic imprinting in mammals. Cold Spring Harbor Perspectives in Biology 6, 2014.

Plasschaert, R.N. and M.S. Bartolomei: Austism: A long genetic explanation. Nature 501(7465): 36-7, September 2013.

Kalish Jennifer M, Conlin Laura K, Bhatti Tricia R, Dubbs Holly A, Harris Mary Catherine, Izumi Kosuke, Mostoufi-Moab Sogol, Mulchandani Surabhi, Saitta Sulagna, States Lisa J, Swarr Daniel T, Wilkens Alisha B, Zackai Elaine H, Zelley Kristin, Bartolomei Marisa S, Nichols Kim E, Palladino Andrew A, Spinner Nancy B, Deardorff Matthew A: Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. American journal of medical genetics. Part A 161(8): 1929-39, Aug 2013.

Venkatraman Aparna, He Xi C, Thorvaldsen Joanne L, Sugimura Ryohichi, Perry John M, Tao Fang, Zhao Meng, Christenson Matthew K, Sanchez Rebeca, Yu Jaclyn Y, Peng Lai, Haug Jeffrey S, Paulson Ariel, Li Hua, Zhong Xiao-Bo, Clemens Thomas L, Bartolomei Marisa S, Li Linheng: Maternal imprinting at the H19-Igf2 locus maintains adult haematopoietic stem cell quiescence. Nature Jul 2013.

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Last updated: 06/20/2016
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Department of Cell and Developmental Biology
1150 BRB II
421 Currie Boulevard
Philadelphia, PA 19104
Tel: (215) 573-9306
Fax: (215) 898-9871