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Start Over Author "Melissa A Davis" Journal nature communications
7 results on '"Melissa A Davis"'

1. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Author

Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D. Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec-Głąbik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A. Genovesi, Rannvá K. Abrahamsen, Christina D. Fenger, Camilla G. Madsen, Julie S. Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas K. Hansen, Martin F. Boxill, Boris Keren, Isabelle Marey, Margarita S. Saenz, Kathleen Brown, Suzanne A. Alexander, Sergey Mureev, Alina Batzilla, Melissa J. Davis, Michael Piper, Mikael Bodén, Thomas H. J. Burne, Nathan J. Palpant, Rikke S. Møller, Sebastian Glatt, and Brandon J. Wainwright

Subjects
Science
Abstract

Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stability and the activity of the complex during brain development.

Published
2021
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2. An Erg-driven transcriptional program controls B cell lymphopoiesis

Author

Ashley P. Ng, Hannah D. Coughlan, Soroor Hediyeh-zadeh, Kira Behrens, Timothy M. Johanson, Michael Sze Yuan Low, Charles C. Bell, Omer Gilan, Yih-Chih Chan, Andrew J. Kueh, Thomas Boudier, Rebecca Feltham, Anna Gabrielyan, Ladina DiRago, Craig D. Hyland, Helen Ierino, Sandra Mifsud, Elizabeth Viney, Tracy Willson, Mark A. Dawson, Rhys S. Allan, Marco J. Herold, Kelly Rogers, David M. Tarlinton, Gordon K. Smyth, Melissa J. Davis, Stephen L. Nutt, and Warren S. Alexander

Subjects
Science
Abstract

B cell development is tightly regulated in a stepwise manner to ensure proper generation of repertoire diversity via somatic gene rearrangements. Here, the authors show that a transcription factor, Erg, functions at the earliest stage to critically control two downstream factors, Ebf1 and Pax5, for modulating this gene rearrangement process.

Published
2020
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3. Construction of developmental lineage relationships in the mouse mammary gland by single-cell RNA profiling

Author

Bhupinder Pal, Yunshun Chen, François Vaillant, Paul Jamieson, Lavinia Gordon, Anne C. Rios, Stephen Wilcox, Naiyang Fu, Kevin He Liu, Felicity C. Jackling, Melissa J. Davis, Geoffrey J. Lindeman, Gordon K. Smyth, and Jane E. Visvader

Subjects
Science
Abstract

The mammary epithelium comprises two cell lineages but the heterogeneity amongst these during development is unclear. Here, the authors report single-cell RNA sequencing of the mouse mammary epithelium at four developmental stages, revealing diversity in both compartments and a transcriptional shift with puberty onset.

Published
2017
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4. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Author

Nyoman D. Kurniawan, Margarita Saenz, Melissa J. Davis, Anna Salerno-Kochan, Julie S. Cohen, Sebastian Glatt, Anna Kościelniak, Ali Fatemi, Mikael Bodén, Martin F. Boxill, Joy Lee, Woo Jun Shim, Nathan J. Palpant, Tomasz Gawda, Jonas K. Hansen, Katarzyna Drożdżyk, Alexander Begg, Rikke S. Møller, Michael Piper, Marija Kojic, Soroor Hediyeh-Zadeh, Thomas H. J. Burne, Brandon J. Wainwright, Kathleen Brown, Isabelle Marey, Sergey Mureev, Rannvá K. Abrahamsen, Enakshi Sinniah, Zornitza Stark, Laura A. Genovesi, Monika Gaik, Andrzej Chramiec-Głąbik, Suzanne Alexander, Alun Jones, Alina Batzilla, Christina Fenger, Camilla Gøbel Madsen, Maria Kasherman, Boris Keren, and Sebastian Lunke

Subjects
0301 basic medicine, Microcephaly, TRNA modification, Autism Spectrum Disorder, Science, General Physics and Astronomy, Spodoptera, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Sf9 Cells, medicine, Animals, Humans, Mice, Knockout, Mutation, Multidisciplinary, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Translation (biology), General Chemistry, medicine.disease, Grooming, Phenotype, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Mice, Inbred DBA, Neurodevelopmental Disorders, Autism spectrum disorder, Transcriptome, Neuroscience, 030217 neurology & neurosurgery
Abstract

Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common neurodevelopmental disorders and are characterized by substantial impairment in intellectual and adaptive functioning, with their genetic and molecular basis remaining largely unknown. Here, we identify biallelic variants in the gene encoding one of the Elongator complex subunits, ELP2, in patients with ID and ASD. Modelling the variants in mice recapitulates the patient features, with brain imaging and tractography analysis revealing microcephaly, loss of white matter tract integrity and an aberrant functional connectome. We show that the Elp2 mutations negatively impact the activity of the complex and its function in translation via tRNA modification. Further, we elucidate that the mutations perturb protein homeostasis leading to impaired neurogenesis, myelin loss and neurodegeneration. Collectively, our data demonstrate an unexpected role for tRNA modification in the pathogenesis of monogenic ID and ASD and define Elp2 as a key regulator of brain development.

Published
2021

5. An Erg-driven transcriptional program controls B cell lymphopoiesis

Author

Hannah D. Coughlan, Helen Ierino, Timothy M. Johanson, Melissa J. Davis, Mark A. Dawson, Anna Gabrielyan, Charles C. Bell, Kira Behrens, Warren S. Alexander, Tracy A. Willson, Yih-Chih Chan, Stephen L. Nutt, Andrew J. Kueh, Sandra Mifsud, Elizabeth M. Viney, Michael Sze Yuan Low, Rhys S. Allan, Gordon K. Smyth, Marco J Herold, Thomas Boudier, Ladina DiRago, Kelly L. Rogers, David M Tarlinton, Rebecca Feltham, Omer Gilan, Ashley P. Ng, Craig D. Hyland, and Soroor Hediyeh-Zadeh

Subjects
0301 basic medicine, Immunoglobulin gene, Transcription, Genetic, PAX5 Transcription Factor, Cellular differentiation, Science, B-cell receptor, General Physics and Astronomy, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Transcriptional Regulator ERG, medicine, Animals, Cell Lineage, Gene Regulatory Networks, Lymphopoiesis, lcsh:Science, B cell, Cells, Cultured, Mice, Knockout, Oncogene Proteins, B cells, B-Lymphocytes, Multidisciplinary, V(D)J recombination, Cell Differentiation, General Chemistry, VDJ recombination, Hematopoietic Stem Cells, V(D)J Recombination, Cell biology, Mice, Inbred C57BL, Gene regulation in immune cells, 030104 developmental biology, medicine.anatomical_structure, lcsh:Q, 030217 neurology & neurosurgery, Transcription Factors
Abstract

B lymphoid development is initiated by the differentiation of hematopoietic stem cells into lineage committed progenitors, ultimately generating mature B cells. This highly regulated process generates clonal immunological diversity via recombination of immunoglobulin V, D and J gene segments. While several transcription factors that control B cell development and V(D)J recombination have been defined, how these processes are initiated and coordinated into a precise regulatory network remains poorly understood. Here, we show that the transcription factor ETS Related Gene (Erg) is essential for early B lymphoid differentiation. Erg initiates a transcriptional network involving the B cell lineage defining genes, Ebf1 and Pax5, which directly promotes expression of key genes involved in V(D)J recombination and formation of the B cell receptor. Complementation of Erg deficiency with a productively rearranged immunoglobulin gene rescued B lineage development, demonstrating that Erg is an essential and stage-specific regulator of the gene regulatory network controlling B lymphopoiesis., B cell development is tightly regulated in a stepwise manner to ensure proper generation of repertoire diversity via somatic gene rearrangements. Here, the authors show that a transcription factor, Erg, functions at the earliest stage to critically control two downstream factors, Ebf1 and Pax5, for modulating this gene rearrangement process.

Published
2020

6. Construction of developmental lineage relationships in the mouse mammary gland by single-cell RNA profiling

Author

Felicity C. Jackling, Yunshun Chen, François Vaillant, Lavinia Gordon, Bhupinder Pal, Stephen Wilcox, Geoffrey J. Lindeman, Melissa J. Davis, Paul R. Jamieson, Gordon K. Smyth, Nai Yang Fu, Jane E. Visvader, Anne C. Rios, and Kevin H. Liu

Subjects
0301 basic medicine, Lineage (genetic), Science, Population, Mammary gland, Morphogenesis, General Physics and Astronomy, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Transcriptome, 03 medical and health sciences, Mice, Mammary Glands, Animal, Gene expression, medicine, Animals, Cell Lineage, lcsh:Science, education, education.field_of_study, Multidisciplinary, CD55 Antigens, Gene Expression Profiling, Epithelial Cells, General Chemistry, Molecular biology, Cell biology, Gene expression profiling, 030104 developmental biology, medicine.anatomical_structure, Mammary Epithelium, RNA, lcsh:Q, Female, Single-Cell Analysis
Abstract

The mammary epithelium comprises two primary cellular lineages, but the degree of heterogeneity within these compartments and their lineage relationships during development remain an open question. Here we report single-cell RNA profiling of mouse mammary epithelial cells spanning four developmental stages in the post-natal gland. Notably, the epithelium undergoes a large-scale shift in gene expression from a relatively homogeneous basal-like program in pre-puberty to distinct lineage-restricted programs in puberty. Interrogation of single-cell transcriptomes reveals different levels of diversity within the luminal and basal compartments, and identifies an early progenitor subset marked by CD55. Moreover, we uncover a luminal transit population and a rare mixed-lineage cluster amongst basal cells in the adult mammary gland. Together these findings point to a developmental hierarchy in which a basal-like gene expression program prevails in the early post-natal gland prior to the specification of distinct lineage signatures, and the presence of cellular intermediates that may serve as transit or lineage-primed cells., The mammary epithelium comprises two cell lineages but the heterogeneity amongst these during development is unclear. Here, the authors report single-cell RNA sequencing of the mouse mammary epithelium at four developmental stages, revealing diversity in both compartments and a transcriptional shift with puberty onset.

Published
2017

7. Basal forebrain degeneration precedes and predicts the cortical spread of Alzheimer's pathology

Author

Howard Feldman, Anton P. Porsteinsson, Lon S. Schneider, Eben S. Schwartz, Earl A. Zimmerman, Richard V. King, Nunzio Pomara, James E. Galvin, M. Marcel Mesulam, Paula Ogrocki, Howard Chertkow, Gail Li, Gad A. Marshall, Kewei Chen, Norbert Schuff, Magdalena Korecka, MaryAnn Oakley, Elaine R. Peskind, Stephen Salloway, Kristine Lipowski, Clifford R. Jack, Charles DeCarli, Greg Jicha, Kathleen Tingus, Tatiana Foroud, Andrew E. Budson, Martha G. MacAvoy, Daniel H.S. Silverman, Sonia Pawluczyk, Mary Quiceno, Kaycee M. Sink, Paul S. Aisen, Peter Davies, Chris Hosein, Erin Householder, Adam Schwartz, Munir Chowdhury, Bruce L. Miller, James J. Lah, Steven E. Arnold, Kenneth M. Spicer, Keith A. Johnson, Karen L. Bell, Laura L. Boles Ponto, Olga James, Stephanie Reeder, Catherine Mc-Adams-Ortiz, Michele Assaly, Melissa J. Davis, Zaven Khachaturian, Leon J. Thal, Allan I. Levey, Betty Lind, Michael D. Devous, P. Murali Doraiswamy, John Q. Trojanowki, Jason Karlawish, Karen S. Anderson, Kejal Kantarci, Raina Carter, Gaby Thai, Tracy Kendall, Bojana Stefanovic, George Bartzokis, M.S. Albert, Donna Munic, Kelly M. Makino, Anahita Adeli, Franz Hefti, Dzintra Celmins, Marwan N. Sabbagh, Nigel J. Cairns, John C. Morris, Donna M. Simpson, Brandy R. Matthews, Marilyn S. Albert, Sterling C. Johnson, Curtis B. Caldwell, Greg Sorensen, Geoffrey Tremont, Charles Bernick, Susan De Santi, Jeffrey R. Petrella, Scott C. Neu, Jeffrey Kaye, Randall Griffith, Helen Vanderswag, Mauricio Beccera, M. L. Senjem, Charles D. Smith, David S. Knopman, Lisa Taylor-Reinwald, Chet Mathis, Susan M. Landau, Dana Nguyen, Nick C. Fox, Adrian Preda, Robert A. Koeppe, Cynthia Hunt, Benita Mudge, Lisa Raudin, Dick J. Drost, Steven M. Paul, Heather Anderson, Michal J. Figurski, Davie Holtzman, Scott Herring, Robert B. Santulli, Chad Ward, Godfrey D. Pearlson, Mark A. Mintun, Joseph F. Quinn, Thomas C. Neylan, M. Saleem Ismail, Alan J. Lerner, Sherye A. Sirrel, Henry W. Querfurth, Rosemary H Morrison, Ronald G. Thomas, Peter A. Hardy, Bryan M. Spann, Kristen Martin-Cook, Robert C. Green, John M Olichney, Lidia Glodzik, Pradeep Garg, Oscar L. Lopez, Annmarie Hake, Douglas W. Scharre, Raymond Scott Turner, Michael Borrie, Sara Dolen, Marc Raichle, Leyla de Toledo-Morrell, Jeffrey M. Burns, Joy L. Taylor, Balebail Ashok Raj, Irina Rachinsky, David Bachman, Horacio Capote, Erik D. Roberson, Effie M. Mitsis, Richard Frank, Michael W. Weiner, Michael C. Donohue, Ansgar J. Furst, Adam S. Fleisher, David S. Geldmacher, Joanne S. Allard, Gus Jiminez, Jared R. Tinklenberg, Teresa Villena, Ranjan Duara, Elizabether Finger, T. Y. Lee, Sanjay Asthana, Dino Massoglia, Alice D. Brown, Neil W. Kowall, Kim Martin, Angela Oliver, Ellen Woo, Susan Rountree, Peggy Roberts, Terence Z. Wong, Meghan Frey, Sandra Harding, Virginia M.-Y. Lee, Taylor W. Schmitz, William J. Jagust, Daniel Varon, Michelle Rainka, Norm Foster, Matt A. Bernstein, Colleen S. Albers, Elizabeth Oates, Myron F. Weiner, Eric C. Petrie, Andrew Kertesz, Janet S. Cellar, Karen Crawford, Christine M. Belden, Chuang-Kuo Wu, Jordan Grafman, Walter Martinez, Devon Gessert, John C. Brockington, David J. Clark, David A. Wolk, Heather E. Johnson, Alexander Norbash, Hillel Grossman, Gary R. Conrad, Kelley Faber, Jacqueline Hayes, Sandra Jacobson, Diana R. Kerwin, Franklin Watkins, T. J. Montine, Ramon Diaz-Arrastia, Hyungsub Shim, Leon Hudson, Jeff Gunter, Partha Sinha, Peter J. Snyder, Norman R. Relkin, Ruth A. Mulnard, Francine Parfitt, David Jones, Nancy Collins Johnson, Tamie Sather, Evan Fletcher, Sarah Walter, Jerome A. Yesavage, Antero Sarrael, Sungeun Kim, Brigid Reynolds, Maria T. Greig, Patricia Lynn Johnson, Stacy Schneider, Yaakov Stern, Beau M. Ances, Steven G. Potkin, Ronald J. Killiany, Mimi Dang, Smita Kittur, James B. Brewer, Chiadi U. Onyike, Paul M. Thompson, Mony J. de Leon, Sandra E. Black, Lawrence S. Honig, Rob Bartha, Gloria Chaing, R. Nathan Spreng, Rachelle S. Doody, Shannon Finley, Stephen H. Pasternak, Brian R. Ott, Reisa A. Sperling, Tamar J. Kitzmiller, John K. Hsiao, Kwangsik Nho, Richard E. Carson, Howard Bergman, Cynthia M. Carlsson, Bonnie S. Goldstein, Kyle B. Womack, Maria Kataki, Lew Kuller, Liana G. Apostolova, J. Jay Fruehling, Daniel D'Agostino, Christina A. Michel, Susan K. Schultz, Howard Fillit, Konstantinos Arfanakis, John A. Rogers, Dana Mathews, Ging-Yuek Robin Hsiung, Barton Lane, Brittany Cerbone, Sara S. Mason, Stephanie Kielb, Kris A. Johnson, Henry Rusinek, Liberty Teodoro, Connie Brand, Jeff D. Williamson, Prashanthi Vemuri, Russell H. Swerdlow, Judith L. Heidebrink, Paul Malloy, Pierre N. Tariot, Bret J. Borowski, Karl E. Friedl, Debra A. Fleischman, Martin R. Farlow, Javier Villanueva-Meyer, Eric M. Reiman, Jacobo Mintzer, Stephen Correia, Po H. Lu, Daniel C. Marson, Steven Potkin, Vernice Bates, Li Shen, Kathleen R. Johnson, Allyson C. Rosen, Neil Buckholtz, Andrew J. Saykin, Raymundo Hernando, Raj C. Shah, M.-Marsel Mesulam, Christopher H. van Dyck, Maria Carroll, Howard J. Rosen, Karen E. Smith, Arthur W. Toga, Leslie M. Shaw, Kristin Fargher, Karen Blank, Ronald C. Petersen, Amanda Smith, Owen Carmichael, Laurel A. Beckett, Sue Leon, William Z. Potter, Neill R. Graff-Radford, Danielle J Harvey, Joanne L. Lord, and Carl H. Sadowsky

Subjects
0301 basic medicine, Male, Pathology, medicine.medical_specialty, Amyloid, Basal Forebrain, Science, General Physics and Astronomy, Degeneration (medical), Grey matter, General Biochemistry, Genetics and Molecular Biology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, medicine, Entorhinal Cortex, Humans, Aged, Aged, 80 and over, Basal forebrain, Multidisciplinary, Amyloid beta-Peptides, business.industry, General Chemistry, medicine.disease, Entorhinal cortex, Prognosis, Magnetic Resonance Imaging, 030104 developmental biology, medicine.anatomical_structure, Biomarker (medicine), Female, Alzheimer's disease, business, 030217 neurology & neurosurgery, Biomarkers, Alzheimer's Disease Neuroimaging Initiative
Abstract

There is considerable debate whether Alzheimer's disease (AD) originates in basal forebrain or entorhinal cortex. Here we examined whether longitudinal decreases in basal forebrain and entorhinal cortex grey matter volume were interdependent and sequential. In a large cohort of age-matched older adults ranging from cognitively normal to AD, we demonstrate that basal forebrain volume predicts longitudinal entorhinal degeneration. Models of parallel degeneration or entorhinal origin received negligible support. We then integrated volumetric measures with an amyloid biomarker sensitive to pre-symptomatic AD pathology. Comparison between cognitively matched normal adult subgroups, delineated according to the amyloid biomarker, revealed abnormal degeneration in basal forebrain, but not entorhinal cortex. Abnormal degeneration in both basal forebrain and entorhinal cortex was only observed among prodromal (mildly amnestic) individuals. We provide evidence that basal forebrain pathology precedes and predicts both entorhinal pathology and memory impairment, challenging the widely held belief that AD has a cortical origin., Whether Alzheimer's disease originates in basal forebrain or entorhinal cortex remains highly debated. Here the authors use structural magnetic resonance data from a longitudinal sample of participants stratified by cerebrospinal biomarker and clinical diagnosis to show that tissue volume changes appear earlier in the basal forebrain than in the entorhinal cortex.

Published
2016

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