Marisa Bartolomei

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Marisa Bartolomei
Alma mater University of Maryland, College Park
Johns Hopkins University
Scientific career
Institutions Perelman School of Medicine at the University of Pennsylvania
Princeton University
Thesis Genetic analysis of the Mouse RNA polymerase II largest subunit  (1987)

Marisa Bartolomei is an American cell biologist, the Perelman Professor of Cell and Developmental Biology and Co-Director of the Epigenetics Institute at the Perelman School of Medicine at the University of Pennsylvania. Her research considers epigenetic processes including genomic imprinting. She was elected to the National Academy of Sciences in 2021.

Contents

Early life and education

Bartolomei was an undergraduate student at the University of Maryland, College Park, where she majored in biochemistry. [1] She was the first member of her family who graduated from college. [2] Her doctoral research considered mouse RNA polymerase. [3] After earning her doctorate she moved to the Johns Hopkins School of Medicine, where she was part of the cellular and molecular biology programme. [1] [4]

Bartolomei was a postdoctoral fellow in laboratory of Shirley M. Tilghman at Princeton University. [5] Here she identified H19, one of the first imprinted genes. [6] She found that this gene was part of an imprinted gene cluster that included the Insulin-like growth factor 2 (Igf2) gene. [5] Bartolomei identified that imprinted genes are regulated by methylated imprinting control regions (ICR). The mouse models developed by Tilghman and Bartolomei helped to identify that it was genetic mutations on H19 that cause Silver–Russell syndrome. Microdeletions on the H19 ICR have been associated with Beckwith–Wiedemann syndrome.

As a postdoc Bartolomei showed that DNA methylation was essential in conferring the parental identity of imprinted genes. Specifically, loss of the maintenance methyltransferase DNMT1 can disrupt imprinted gene expression in both the placenta and the embryo. [6]

Research and career

In 1993 Bartolomei joined the faculty at the Perelman School of Medicine at the University of Pennsylvania. She dedicated her career to understand genomic imprinting, an inheritance process that results in unequal expression of the maternal and paternal alleles of genes. [1] Amongst these genes, Bartolomei has continued to study H19. She found that when the gene was activated in the blastocyst mouse models demonstrated maternal-specific expression.

These mouse models allowed Bartolomei to identify that assisted reproductive technologies (including in-vitro culture, embryo transfer, in vitro fertilisation and hormonal hyperstimulation) can contribute to errors in epigenetic gene regulation. She has investigated the role of the transcription factor CTCF. She found that in the absence of CTCF, H19 becomes hypermethylated and embryos die early in development. [6] She went on to show that CTCF was crucial in early development and very involved with gene activity. [6]

Her research has considered X-inactivation in mice; the process by which female mice silence oneX chromosome to achieve the same X-linked expression as male mice. [1]

Awards and honours

Personal life

Bartolomei is married with two daughters. [2]

Select publications

Related Research Articles

Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed or not, depending on whether they are inherited from the mother or the father. Genes can also be partially imprinted. Partial imprinting occurs when alleles from both parents are differently expressed rather than complete expression and complete suppression of one parent's allele. Forms of genomic imprinting have been demonstrated in fungi, plants and animals. In 2014, there were about 150 imprinted genes known in mice and about half that in humans. As of 2019, 260 imprinted genes have been reported in mice and 228 in humans.

<span class="mw-page-title-main">Martin Evans</span> British biologist

Sir Martin John EvansFLSW is an English biologist who, with Matthew Kaufman, was the first to culture mice embryonic stem cells and cultivate them in a laboratory in 1981. He is also known, along with Mario Capecchi and Oliver Smithies, for his work in the development of the knockout mouse and the related technology of gene targeting, a method of using embryonic stem cells to create specific gene modifications in mice. In 2007, the three shared the Nobel Prize in Physiology or Medicine in recognition of their discovery and contribution to the efforts to develop new treatments for illnesses in humans.

<span class="mw-page-title-main">Insulin-like growth factor 2</span> Protein hormone

Insulin-like growth factor 2 (IGF-2) is one of three protein hormones that share structural similarity to insulin. The MeSH definition reads: "A well-characterized neutral peptide believed to be secreted by the liver and to circulate in the blood. It has growth-regulating, insulin-like and mitogenic activities. The growth factor has a major, but not absolute, dependence on somatotropin. It is believed to be a major fetal growth factor in contrast to insulin-like growth factor 1 (IGF-1), which is a major growth factor in adults."

An insulator is a type of cis-regulatory element known as a long-range regulatory element. Found in multicellular eukaryotes and working over distances from the promoter element of the target gene, an insulator is typically 300 bp to 2000 bp in length. Insulators contain clustered binding sites for sequence specific DNA-binding proteins and mediate intra- and inter-chromosomal interactions.

<span class="mw-page-title-main">Rudolf Jaenisch</span> German biologist

Rudolf Jaenisch is a Professor of Biology at MIT and a founding member of the Whitehead Institute for Biomedical Research. He is a pioneer of transgenic science, in which an animal’s genetic makeup is altered. Jaenisch has focused on creating genetically modified mice to study cancer, epigenetic reprogramming and neurological diseases.

<span class="mw-page-title-main">CTCF</span> Transcription factor

Transcriptional repressor CTCF also known as 11-zinc finger protein or CCCTC-binding factor is a transcription factor that in humans is encoded by the CTCF gene. CTCF is involved in many cellular processes, including transcriptional regulation, insulator activity, V(D)J recombination and regulation of chromatin architecture.

<span class="mw-page-title-main">Ralph L. Brinster</span> American geneticist

Ralph Lawrence Brinster is an American geneticist, National Medal of Science laureate, and Richard King Mellon Professor of Reproductive Physiology at the School of Veterinary Medicine, University of Pennsylvania.

<span class="mw-page-title-main">H19 (gene)</span> Negative regulation (or limiting) of body weight and cell proliferation

H19 is a gene for a long noncoding RNA, found in humans and elsewhere. H19 has a role in the negative regulation of body weight and cell proliferation. This gene also has a role in the formation of some cancers and in the regulation of gene expression. .

<span class="mw-page-title-main">CTCFL</span> Protein-coding gene in the species Homo sapiens

Transcriptional repressor CTCFL also known as BORIS is a protein that in humans is encoded by the CTCFL gene.

<span class="mw-page-title-main">Cell potency</span> Ability of a cell to differentiate into other cell types

Cell potency is a cell's ability to differentiate into other cell types. The more cell types a cell can differentiate into, the greater its potency. Potency is also described as the gene activation potential within a cell, which like a continuum, begins with totipotency to designate a cell with the most differentiation potential, pluripotency, multipotency, oligopotency, and finally unipotency.

Edith Heard is a British-French researcher in epigenetics and since January 2019 has been the Director General of the European Molecular Biology Laboratory (EMBL). She is also Professor at the Collège de France, holding the Chair of Epigenetics and Cellular Memory. From 2010 to 2018, Heard was the Director of the Genetics and Developmental Biology department at the Curie Institute (Paris), France. Heard is noted for her studies of X-chromosome-inactivation.

<span class="mw-page-title-main">Wolf Reik</span> German molecular biologist

Wolf Reik FRS is a German molecular biologist and a group leader at the Babraham Institute, honorary professor of Epigenetics at the University of Cambridge and associate faculty at the Wellcome Trust Sanger Institute. He was announced as the director of Altos Labs Cambridge Institute when the company launched on 19 January 2022.

Epigenetics of human development is the study of how epigenetics effects human development.

Katharine Luisa Arney is a British science communicator, broadcaster, author, and the founder and creative director of communications consultancy First Create the Media. She was a regular co-host of The Naked Scientists, a BBC Radio programme and podcast, and also hosted the BBC Radio 5 Live Science Show and the BBC Radio 4 series Did the Victorians Ruin the World She has written numerous articles and columns for Science, The Guardian, New Scientist the BBC and others.

<span class="mw-page-title-main">Insulated neighborhood</span>

In mammalian biology, insulated neighborhoods are chromosomal loop structures formed by the physical interaction of two DNA loci bound by the transcription factor CTCF and co-occupied by cohesin. Insulated neighborhoods are thought to be structural and functional units of gene control because their integrity is important for normal gene regulation. Current evidence suggests that these structures form the mechanistic underpinnings of higher-order chromosome structures, including topologically associating domains (TADs). Insulated neighborhoods are functionally important in understanding gene regulation in normal cells and dysregulated gene expression in disease.

Azim Surani is a Kenyan-British developmental biologist who has been Marshall–Walton Professor at the Wellcome Trust/Cancer Research UK Gurdon Institute at the University of Cambridge since 1992, and Director of Germline and Epigenomics Research since 2013.

Davor Solter is a Yugoslavian-born developmental biologist, particularly known for his pioneering work on mammalian genomic imprinting. He is Emeritus Member and Director, Max Planck Institute of Immunobiology and Epigenetics; Visiting International Professor, Siriraj Center for Excellence in Stem Cell Research, Mahidol University, Thailand; and Visiting Professor, University of Zagreb Medical School.

Folami Ideraabdullah is an American geneticist and assistant professor in the Department of Genetics and the Department of Nutrition at the Gillings School of Global Public Health at the University of North Carolina at Chapel Hill. Ideraabdullah explores how maternal nutrition and environmental toxin exposure affect development through exploring epigenetic changes to DNA. She has found that maternal Vitamin D deficiencies can cause genome-wide changes in methylation patterns that persist for several generations and impact offspring health. Her international collaboration with the University of Witwatersrand represents the first time that metal levels in the placenta have been investigated in relation to birth outcomes in South Africa.

<span class="mw-page-title-main">Katalin Susztak</span> Hungarian-American nephrologist

Katalin Susztak (Suszták) is a Hungarian American scientist and nephrologist at the Perelman School of Medicine at the University of Pennsylvania. She is a professor of medicine and genetics, and currently the codirector of the Complications Unit at the Institute for Diabetes, Obesity and Metabolism. Her laboratory made major contributions to the current understanding of kidney disease development. She is also the founder of the Transformative Research In DiabEtic NephropaThy (TRIDENT), a collaborative network of physicians and basic scientists, to find cures for diabetic kidney disease.

Hongjun Song is a Chinese-American neurologist and stem cell biologist. He is the Perelman Professor of Neuroscience in the Perelman School of Medicine's Department of Neuroscience and co-director of the Institute for Regenerative Mediacine Neurodevelopment and Regeneration Program. In 2020, Song was elected a Member of the National Academy of Medicine for "revealing unexpected dynamics and plasticity of the neuronal epigenome, as well as its functions under physiological and pathological conditions."

References

  1. 1 2 3 4 "Marisa S. Bartolomei | Faculty | About Us | Perelman School of Medicine | Perelman School of Medicine at the University of Pennsylvania". www.med.upenn.edu. Retrieved 2021-04-28.
  2. 1 2 3 Ward, Monika A (2018-02-01). "An interview with Dr Marisa Bartolomei". Biology of Reproduction. 98 (2): 147–149. doi: 10.1093/biolre/iox170 . ISSN   0006-3363. PMID   29228104.
  3. ↑ Bartolomei, Marisa S (1987). Genetic analysis of the Mouse RNA polymerase II largest subunit (Thesis). OCLC   82693809.
  4. ↑ "Marisa S. Bartolomei-Marisa S.-1987 – Hopkins BCMB" . Retrieved 2021-04-28.
  5. 1 2 Nybo, Kristie (May 2010). "Profile of Marisa S. Bartolomei: Professor, Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA". BioTechniques. 48 (5): 357. doi: 10.2144/000113414 . ISSN   0736-6205.
  6. 1 2 3 4 "Marisa Bartolomei, Ph.D." Penn Epigenetics Institute. Retrieved 2021-04-28.
  7. ↑ "Penn Scientist receives first annual prize for scientific contributions to women's health". EurekAlert!. Retrieved 2021-04-28.
  8. ↑ "Marisa Bartolomei Receives Endowed Professorship – Cell and Developmental Biology @ U Penn" . Retrieved 2021-04-28.
  9. ↑ "New AAAS Fellows Recognized for Their Contributions to Advancing Science | American Association for the Advancement of Science". www.aaas.org. Retrieved 2021-04-28.
  10. ↑ "Penn Medicine Faculty Named to 2014 Class of AAAS Fellows - Penn Medicine". www.pennmedicine.org. Retrieved 2021-04-28.
  11. ↑ "Genetics Society Medal 2017". Genetics Society. Retrieved 2021-04-28.
  12. ↑ "2021 NAS Election". www.nasonline.org. Retrieved 2021-04-28.
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