WorldCat Identities

Bartolomei, Marisa

Overview
Works: 14 works in 25 publications in 1 language and 126 library holdings
Genres: Academic theses 
Roles: Author, Speaker
Publication Timeline
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Most widely held works by Marisa Bartolomei
Genomic imprinting by Marisa Bartolomei( Visual )

5 editions published in 2011 in English and held by 65 WorldCat member libraries worldwide

Epigenetics and inheritance by Marisa Bartolomei( Visual )

2 editions published in 2019 in English and held by 43 WorldCat member libraries worldwide

Epigenetics( Book )

4 editions published in 2005 in English and held by 6 WorldCat member libraries worldwide

Targeted epigenetic editing to increase adult pancreatic [beta]-cell proliferation by Diana L Bernstein( Book )

2 editions published in 2016 in English and held by 2 WorldCat member libraries worldwide

[Beta]-cell replacement therapy is potentially a curative approach in treating diabetes, as demonstrated by the success of pancreatic islet transplantation in type 1 diabetes. However, there are an insufficient number of organ donors to meet the demand of this disease, which is increasing in prevalence. One strategy to increase the supply of human [beta]-cells for transplantation in type 1 diabetics, or to increase residual [beta]-cell mass in type 2 diabetics, is to induce human [beta]-cell replication. This strategy has not been implemented clinically because adult human [beta]-cells are largely quiescent and the capacity for proliferation decreases with age. I hypothesized that changes in DNA methylation contribute to the age-related decline in proliferative capacity in human [beta]-cells, and that altering the DNA methylome in a targeted manner could improve proliferative capacity. To investigate this hypothesis, I sought to profile the [beta]-cell across the human lifespan, and to develop tools that permit targeted DNA methylation modifications and efficiency in measuring DNA methylation. I conducted RNA-Seq and whole-genome bisulfite sequencing (WGBS) to profile the aging human [beta]-cell transcriptome and DNA methylome. I found that there are significant changes in gene expression with age, and in DNA methylation, particularly at islet-specific active enhancers. Further, I developed transcription activator-like effector (TALE) fusion proteins conjugated to DNA methyltransferases (DNMTs) and demonstrated that targeting TALE-DNMTs to the promoter of the CDKN2A locus, encoding the cell cycle inhibitor p16, increases proliferation in primary human fibroblasts. Finally, I developed BisPCR2, a novel technique for preparing targeted bisulfite next-generation sequencing libraries, which greatly improves the efficiency in which DNA methylation can be measured at target regions. I demonstrated the utility of this tool to validate genome-wide findings of type 2 diabetes CpG risk loci. Together, these novel datasets and epigenetic tools poise the [beta]-cell regeneration field to investigate targeted epigenetic modifications as a strategy to improve proliferative capacity of adult human [beta]-cells
Non-canonical roles for RAG1 in lymphocyte development by Julie E Horowitz( Book )

2 editions published in 2015 in English and held by 2 WorldCat member libraries worldwide

The RAG1/RAG2 (RAG) endonuclease recombines accessible antigen receptor (AgR) genes through DNA double strand break (DSB) intermediates to generate a diverse AgR repertoire. RAG-mediated DSBs signal changes in expression of genes encoding proteins involved in cellular survival, lymphocyte differentiation, and AgR selection. RAG proteins are each comprised of "core" endonuclease domains and dispensable "non-core" regions. Humans with mutations in non-core RAG1 regions exhibit fatal primary immunodeficiencies, and mice expressing truncated core, but not full-length, Rag1 protein (Rag1C/C mice) exhibit impaired early lymphocyte development associated with reduced levels of AgR gene rearrangements. In addition to serving with RAG2 as the V(D)J endonuclease, the RAG1 protein has been proposed to utilize non-core regions to regulate V(D)J recombination by enhancing AgR locus accessibility, promoting efficient RAG endonuclease activity, and/or generating RAG DSB-induced survival and differentiation signals. The experiments described in this thesis use a variety of mouse genetic models to investigate how mutations in RAG1 protein that preserve RAG endonuclease activity impair V(D)J recombination efficiency and lymphocyte development. First, these studies have identified roles for non-core Rag1 regions in regulating normal Alpha/Beta T cell development and TCRB recombination by promoting VB rearrangements and diverse usage of VB gene segments in both primary and secondary VB rearrangements. Second, these studies show that non-core Rag1 regulates normal B cell development by inducing transcriptional activation of the pro-survival kinase Pim2 in response to RAG cleavage and by promoting the survival of developing IgKappa + and IgLambda+ B cells. These studies have also identified roles for Rag1 in enhancing IgKappa and IgLambda locus accessibility in pre-B cells prior to RAG cleavage. Collectively, the data presented in this thesis demonstrate that RAG1 has critical functions outside of V(D)J recombination that enhance AgR gene segment accessibility, promote V(D)J recombination at multiple AgR loci, and transduce pro-survival signals during AgR recombination to establish a broad AgR repertoire and thereby foster normal lymphocyte development
Molecular-genetic mechanisms of memory formation in mouse models of neurodevelopmental and neuropsychiatric disorders by Hannah Schoch( Book )

2 editions published in 2014 in English and held by 2 WorldCat member libraries worldwide

Neurodevelopmental and neuropsychiatric disorders are a significant and expanding global health crisis. Many individuals affected by these disorders have social and cognitive symptoms represent significant sources of ongoing disability that are refractory to available treatment options. The search for cures and therapies for disorders fundamentally requires an understanding of the core neuropathology and insight into the underlying molecular mechanisms at work. In this dissertation, I describe experiments that we performed to explore molecular and genetic mechanisms underlying memory impairment and enhancement in mice. Synaptic structural proteins form a critical and adjustable framework that supports recruitment of neurotransmitter receptors and facilitates signal transduction. In Chapter 2, we explored a role for the autism-related gene Protocadherin 10 (Pcdh10) as a key regulator of dendritic spine morphology and synapse elimination. We found that mice with reduced PCDH10 have deficits in amygdala function, including impairments in conditioned fear, social interactions and gamma synchrony, as well as increased density of immature filopodia-type spines. In the second part of this dissertation, we showed that the co-repressor SIN3A is a negative regulator of memory formation. In Chapter 3, we demonstrated that reducing levels of SIN3A enhances in long-term memory and hippocampal synaptic plasticity, and increases expression of Homer1, a gene encoding a post-synaptic density protein that regulates signaling through metabotropic glutamate receptors. In Chapter 4, we identified contextual fear deficits in transgenic mice expressing Cre recombinase in forebrain neurons. These results expand our understanding of molecular mechanisms of memory formation, and identify new therapeutic targets for improving cognitive function
Metabolic and skeletal system health effects and molecular mechanisms following in utero exposure to di(ethylhexyl) phthalate (DEHP) by Nikita Choudhary( )

1 edition published in 2019 in English and held by 1 WorldCat member library worldwide

New mechanisms of X-chromosome inactivation contribute to the female bias of lupus by Camille M Syrett( )

1 edition published in 2019 in English and held by 1 WorldCat member library worldwide

The X chromosome is highly enriched for genes with critical immune regulatory functions. Intriguingly, autoimmune disorders like systemic lupus erythematosus are more prevalent in individuals with two X chromosomes such as XX women and XXY men with Klinefelter syndrome. In females, the long noncoding RNA Xist initiates and maintains X-chromosome inactivation (XCI), where a single X chromosome is transcriptionally silenced to equalize X-linked gene dosage between the sexes. The paradigm of XCI is that all female somatic cells maintain silencing of the inactive X chromosome (Xi) through continuous Xist RNA localization and heterochromatin enrichment at the Xi. Importantly, increased X-linked gene expression is observed in lupus, yet the precise mechanism responsible for this transcriptional increase is unclear. Here, we perform an in-depth examination of the unique and dynamic maintenance of XCI in female murine immune cells. Remarkably, some lymphoid and myeloid lineage cells, including naïve lymphocytes, lack the canonical enrichment of Xist RNA and heterochromatin at the Xi. These epigenetic features return back to the Xi in the B cell lineage during in vitro activation in a two-step mechanism dependent on the transcription factor YY1. Importantly, deleting YY1 in activated B cells disrupts the localization of Xist RNA to the Xi and increases X-linked gene expression, suggesting that Xist RNA is required at the Xi in activated lymphocytes to mediate dosage compensation. Thus, we hypothesized that Xist RNA is mislocalized in activated lymphocytes from females with lupus, thereby altering X-linked gene dosage and contributing to the overexpression of X-linked immune genes observed during autoimmunity. Indeed, using a murine model of female-biased lupus-like disease, we find evidence for the mislocalization of Xist RNA and altered expression of X-linked genes in activated lupus lymphocytes. Together, we uncover a new mechanism for the dynamic maintenance of XCI in female immune cells, and we discuss the important contribution of Xist RNA localization to female-biased autoimmunity
<> by Diana L Bernstein( )

1 edition published in 2016 in English and held by 1 WorldCat member library worldwide

Why parents matter (epigenetically) : genomic imprinting in health and disease( Visual )

1 edition published in 2016 in English and held by 1 WorldCat member library worldwide

(CIT): Imprinted genes are expressed from a single parental allele and most reside in clusters that are located throughout the mammalian genome. The clusters typically contain an imprinting control region (ICR), which harbors allele-specific methylation and governs the imprinting of the entire domain. Although most imprinted clusters use long non-coding RNAs to regulate imprinted gene expression, a few are regulated by the transcriptional regulator CTCF and allele-specific insulator function. One such cluster harbors the H19 and Igf2 imprinted genes, and is controlled by an ICR that contains multiple CTCF binding sites. Gain of maternal methylation and loss of paternal hypermethylation of the H19/IGF2 ICR are associated with the human growth disorders Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome, respectively. Using gene targeting and genome editing, Dr. Bartolomei's team has generated embryonic stem cells, induced pluripotent stem-cell lines and mice to study the mechanisms of imprinting for these imprinted loci and to model the epigenetic mutations in human syndromes. Her lab has also developed SNP-FISH to study the dynamics of allele-specific gene expression at the single cell level in cell lines and tissues with loss of imprinting. In addition, her lab has studied imprinting in animal models of assisted reproductive technologies (ART) and endocrine disrupting chemical exposures (EDCs). Both ART and EDCs are associated with the increased loss of imprinting of various genes and with DNA methylation aberrations. The effects are especially pronounced in the placenta where the regulation of multiple genes and DNA methylation of repetitive elements are perturbed and where morphological changes are evident
The roles of EZH2 in lung development by Melinda Snitow( Book )

1 edition published in 2015 in English and held by 1 WorldCat member library worldwide

Lungs are complex organs comprising many and varied cell types with distinct and complementary functions. These myriad lineages arise during development from common progenitors through series of patterning cues and cell fate decisions. Epigenetic regulation of cell fate decisions is critical in many stem and progenitor cells and in the specification and appropriate development of many organs, but its role in lung development is largely unknown. In this work, I show that the Polycomb Repressive Complex 2 enzyme EZH2 is required for lung development. I demonstrate that EZH2 is highly expressed during early lung development and that expression diminishes late in development. Using conditional genetic deletion of EZH2 in the lung endoderm and in the lung mesoderm in mice, I found that EZH2 is required to suppress cell cycle inhibitors during lung development and allow proliferation and proper lung growth, alveolar development, and the capacity to breathe at birth. Gene expression, immunohistochemistry, and lineage tracing analyses show that EZH2 in the endoderm suppresses the basal stem cell lineage and regulates the balance of basal cells and secretory club cells. Further conditional genetic deletions of EZH2 in the basal cell and club cell lineages show that EZH2 is not required to balance these cell types once they express mature lineage markers. Gene expression, immunohistochemistry, and lineage tracing analyses show that EZH2 in the mesoderm suppresses ectopic smooth muscle development from the mesothelium. Conditional genetic deletion of EZH2 in the mesothelium shows a mesothelial-specific requirement for EZH2 to suppress the smooth muscle lineage. Chromatin analysis reveals that EZH2 represses master transcription factors of the basal cell and smooth muscle lineages, thereby suppressing these lineages during lung development. These studies reveal a critical role for epigenetic transcriptional repression by EZH2 to suppress ectopic lineages and allow normal lung development
Genomic imprinting by Marisa Bartolomei( )

1 edition published in 2011 in English and held by 1 WorldCat member library worldwide

Genomic Imprinting by Marisa Bartolomei( )

1 edition published in 2011 in English and held by 0 WorldCat member libraries worldwide

Epigenetics and inheritance by Marisa Bartolomei( )

1 edition published in 2019 in English and held by 0 WorldCat member libraries worldwide

 
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Alternative Names
Marisa Bartolomei biologiste cellulaire américaine

Marisa Bartolomei investigador

Marisa S. Bartolomei American cell biologist

Marisa S Bartolomei wetenschapper

Languages
English (25)