Cell & Developmental Biology
faculty photo

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

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.

Susiarjo Martha, Sasson Isaac, Mesaros Clementina, Bartolomei Marisa S: Bisphenol a exposure disrupts genomic imprinting in the mouse. PLoS genetics 9(4): e1003401, Apr 2013.

Lee Jeannie T, Bartolomei Marisa S: X-inactivation, imprinting, and long noncoding RNAs in health and disease. Cell 152(6): 1308-23, Mar 2013.

Deng Zhong, Wang Zhuo, Stong Nick, Plasschaert Robert, Moczan Aliah, Chen Horng-Shen, Hu Sufeng, Wikramasinghe Priyankara, Davuluri Ramana V, Bartolomei Marisa S, Riethman Harold, Lieberman Paul M: A role for CTCF and cohesin in subtelomere chromatin organization, TERRA transcription, and telomere end protection. The EMBO journal 31(21): 4165-78, Nov 2012.

Thorvaldsen Joanne L, Krapp Christopher, Willard Huntington F, Bartolomei Marisa S: Nonrandom X Chromosome Inactivation is Influenced by Multiple Regions on the Murine X Chromosome. Genetics Aug 2012.

de Waal Eric, Yamazaki Yukiko, Ingale Puraskar, Bartolomei Marisa S, Yanagimachi Ryuzo, McCarrey John R: Gonadotropin stimulation contributes to an increased incidence of epimutations in ICSI-derived mice. Human molecular genetics Jul 2012.

Wu Xin, Goodyear Shaun M, Abramowitz Lara K, Bartolomei Marisa S, Tobias John W, Avarbock Mary R, Brinster Ralph L: Fertile offspring derived from mouse spermatogonial stem cells cryopreserved for more than 14 years. Human reproduction (Oxford, England) 27(5): 1249-59, May 2012.

Abramowitz Lara K, Bartolomei Marisa S: Genomic imprinting: recognition and marking of imprinted loci. Current opinion in genetics & development 22(2): 72-8, Apr 2012.

Kelsey Gavin, Bartolomei Marisa S: Imprinted genes … and the number is? PLoS genetics 8(3): e1002601, 2012.

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Last updated: 12/15/2014
The Trustees of the University of Pennsylvania

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