Nathalie Bérubé

Genetics & Development Dr. Nathalie Bérubé


Scientist, Division of Genetics and Development, Children’s Health Research Institute
Associate Professor, Departments of Paediatrics, Biochemistry, Schulich School of Medicine & Dentistry, Western University
Associate Scientist, Lawson Health Research Institute

How my research helps children

Our research is aimed at understanding how DNA is organized and packaged in brain cells and how misfolding of DNA causes neurodevelopmental disorders such as ATR-X and Rett syndrome.  There are no disease targeted therapies for these disorders and most other causes of developmental delay. Understanding the molecular basis of these disorders contributes to a greater understanding of normal brain development and is a necessary first step towards developing therapies.


Current Research Activities

Higher order chromatin structure governs diverse cellular processes ranging from stable inheritance of gene expression patterns to other aspects of global chromosome structure essential for preserving genomic integrity.  A number of genetic developmental disorders are caused by mutations in factors that participate in chromatin packaging and organization. Dr. Bérubé’s laboratory is currently investigating how chromatin proteins such as ATRX, MeCP2, CTCF and cohesin regulate epigenetic states of DNA, higher order chromatin structure and gene expression in the developing brain and skeleton.

Research Team

Michael Levy, Ph.D. candidate
Kieran Ritchie, Ph.D. candidate
Kristin Kernohan, Ph.D.candidate
Lauren Solomon, Ph.D candidate
Ashley Watson, M.Sc candidate
Jennifer Ruizhe Li, M.Sc candidate
Ryan Perlus, M.Sc candidate
Corinna Zogel, Postdoctoral fellow
Yan Jiang, Technician
Kristian Levey, Technician
Roochi Arora, Undergraduate

Past graduate trainees: Deanna Tremblay, M.Sc.

Past Technicians and medical residents: Claudia Seah and Varun Chaudary

Past Undergraduate trainees: Ari Short, Danielle Tegart, Jana Moulin, Allan Greenwood, Sulayman Mokhtarzada, Jennifer Paula Webb, Wendy Elaine Louise Furlong, Brian Monaghan, Ashbeel Roy, Angela Zhang, Pierre Elliot, Oscar Velázquez Camacho, Shane Varghese

Awards & Grants

Awards & Grants

Funding in support of "Neuronal functions of the ATRX mental retardation gene" – Awarded by Canadian Institute of Health Research (CIHR)

Funding in support of "The Importance of chromatin structure in intellectual disabilities"– Awarded by Western Strategic Support for CIHR Success

Investigator of the Year Research Award – Awarded by Children’s Health Research Institute (CHRI)

New Investigator Award – Awarded by Canadian Institute of Health Research (CIHR)

Funding in support of “Control of skeletal development by the chromatin remodeling protein ATRX” – Awarded by Canadian Institute of Health Research (CIHR)

Funding in support of “Neuronal functions of the ATRX gene” – Awarded by CIHR

Funding in support of “Epigenetic control of ancestral pseudoautosomal genes” – Awarded by Natural Science and Engineering Research Council of Canada (NSERC)

Funding in support of “Epigenetic regulation of gene expression by MeCP2 in the mouse brain” – Awarded by Rett Syndrome Research Foundation, USA

Funding in support of “Role of ATRX in endochondral bone growth” – Awarded by Children’s Health Research Institute (CHRI)

Funding in support of “The role of the ATRX mental retardation gene in hippocampal development” – Awarded by CIHR

Funding in support of “Cell death signaling pathways controlled by ATRX” – Awarded by Hospital for Sick Children

Recent Publications


Loss of ATRX does not confer susceptibility to osteoarthritis
Solomon LA, Russell BA, Makar D, Bérubé NG, Beier F
PLoS ONE. 2013, 8:12:e85526

Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly
Solomon LA, Russell B, Watson AL, Beier F, Bérubé NG
Hum Mol Genet. 2013; 22:5015-5025

ATRX deficiency induces telomere dysfunction, endocrine defects, and reduced lifespan
Watson AL, Solomon LA, Ruizhe Li J, Jiang Y, Edwards M, Shin-ya K, Beier F, Bérubé NG
J Clin Invest. 2013; 1:2049-63

Chromatin Structure and Intellectual Disability Syndromes
Elbert A, Bérubé NG
Intellectual and Developmental Disabilities. 2013

Epigenetics, Eh! A meeting summary of the Canadian Conference on Epigenetics
Rodenhiser DI, Bérubé NG, Mann MRW
Epigenetics. 2011; 6:1-7

ATRX in chromatin assembly and genome architecture: implications for development and disease
Bérubé NG
Biochemistry and Cell Biology. 2011; 89:435-444

Genetic and epigenetic dysregulation of imprinted genes in the brain
Kernohan KD, Bérubé NG
Epigenomics. 2010; 2:743-763

Mitotic chromosome condensation mediated by the retinoblastoma protein is tumor suppressive
Coschi CH, Martens AL, Ritchie K, Francis SM, Chakrabarti S, Bérubé NG, Dick FA
Genes Dev. 2010 Jul 1; 24(13):1351-63

ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain
Kernohan KD, Jiang Y, Tremblay DC, Bonvissuto AC, Eubanks JH, Mann MR, Bérubé NG
Dev Cell. 2010 Feb 16; 18(2):191-202

Loss of ATRX in chondrocytes has minimal effects on skeletal development
Solomon LA, Li JR, Bérubé NG, Beier F
PLoS One. 2009 Sep 23; 4(9):e7106

Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome
Medina CF, Mazerolle C, Wang Y, Bérubé NG, Coupland S, Gibbons RJ, Wallace VA, Picketts DJ
Hum Mol Genet. 2009 Mar 1; 18(5):966-77

Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53
Seah C, Levy MA, Jiang Y, Mokhtarzada S, Higgs DR, Gibbons RJ, Bérubé NG
Neurosci. 2008 Nov 19; 28(47):12570-80.

The SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genome
Levy MA, Fernandes AD, Tremblay DC, Seah C, Bérubé NG
BMC Genomics. 2008 Oct 8; 9:468

Transcriptional regulators of chondrocyte hypertrophy
Solomon LA, Bérubé NG, Beier F
Birth Defects Res C Embryo Today. 2008 Jun; 84(2):123-30

Loss of ATRX leads to chromosome cohesion and congression defects
Ritchie K, Seah C, Moulin J, Isaac C, Dick F, Bérubé NG
Cell Biol. 2008 Jan 28; 180(2):315-24

Patient mutations alter ATRX targeting to PML nuclear bodies
Bérubé NG, Healy J, Medina CF, Wu S, Hodgson T, Jagla M, Picketts DJ.
Eur J Hum Genet. 2008 Feb; 16(2):192-201

Additional publications



Phone: (519) 685-8500, x55066
Fax: (519) 685-8186
Email: nberube [at] uwo [dot] ca

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