MONTREAL, Jan. 16, 2014 /CNW Telbec/ - A study conducted by Marie
Kmita's team at the IRCM, in collaboration with Josée Dostie at McGill
University, shows the importance of the chromatin architecture in
controlling the activity of genes, especially those required for proper
embryonic development. This discovery, recently published in the
scientific journal PLOS Genetics, could have a significant impact on the diagnosis of genetic diseases.
Each cell in the body contains a person's genetic information in the
form of DNA molecules, wrapped around structures called nucleosomes.
Together, the DNA and nucleosomes form the chromatin, which is the main
component of chromosomes.
"Our work shows that the regulation of the activity of genes controlling
embryonic development is linked to the three-dimensional organization
of the chromatin," explains Dr. Kmita, Director of the Genetics and
Development research unit at the IRCM. "In fact, this chromatin
architecture, which varies according to the cell type, generates
specific contacts between sequences of regulatory DNA and the genes
To date, studying the causes of genetic diseases is mainly achieved
through DNA sequencing and the analysis of gene sequences. However, the
cause of such diseases could just as well be an anomaly in the DNA
sequences that control the genes.
"It is now possible to identify regulatory DNA that controls a given
gene," adds Dr. Kmita. "Our discovery paves the way for studying the
mechanisms that control the architecture of chromatin, which should
have a significant impact on identifying the causes and diagnosing
The IRCM researchers' scientific breakthrough could have an impact on a
large number of genetic diseases, including those associated with the
Hox genes studied by Dr. Kmita, such as synpolydactyly (a congenital
malformation characterized by the fusion of digits and the production
of additional digits) and the hand-foot-genital syndrome (a genetic
disease characterized by limb malformations and urogenital defects).
About the research project
The study was conducted in collaboration with Dr. Josée Dostie's team at
Rosalind and Morris Goodman Cancer Research Centre - McGill University.
The IRCM researchers who contributed to this project are Soizik
Berlivet (first author), Annie Dumouchel and David Langlais. Dr.
Kmita's research was funded by the Canadian Institutes of Health
Research and the Canada Research Chairs Program.
For more information, please refer to the article published online by
the PLOS Genetics: http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004018.
About Marie Kmita
Marie Kmita obtained her PhD in cell and molecular biology from the
Université de Reims in France. She is Associate IRCM Research Professor
and Director of the Genetics and Development research unit. Dr. Kmita
is associate research professor in the Department of Medicine
(accreditation in molecular biology) at the Université de Montréal. She
is also Adjunct Professor in the Department of Medicine (Division of
Experimental Medicine) and the Department of Biology at McGill
University. Dr. Kmita holds the Canada Research Chair in Molecular
Embryology and Genetics. For more information, visit www.ircm.qc.ca/kmita.
About the IRCM
Founded in 1967, the Institut de recherches cliniques de Montréal (www.ircm.qc.ca) is currently comprised of 35 research units in various fields, namely
immunity and viral infections, cardiovascular and metabolic diseases,
cancer, neurobiology and development, systems biology and medicinal
chemistry. It also houses four specialized research clinics, eight core
facilities and three research platforms with state-of-the-art
equipment. The IRCM employs 425 people and is an independent
institution affiliated with the Université de Montréal. The IRCM Clinic
is associated to the Centre hospitalier de l'Université de Montréal
(CHUM). The IRCM also maintains a long-standing association with McGill
University. The IRCM is funded by the Quebec ministry of Higher
Education, Research, Science and Technology.
About the Canadian Institutes of Health Research
The Canadian Institutes of Health Research (CIHR) is the Government of
Canada's health research investment agency. CIHR's mission is to create
new scientific knowledge and to enable its translation into improved
health, more effective health services and products, and a strengthened
health care system for Canadians. Composed of 13 Institutes, CIHR
provides leadership and support to more than 12,600 health researchers
and trainees across Canada. www.cihr-irsc.gc.ca
SOURCE: Institut de recherches cliniques de Montréal (IRCM)
For further information:
For more information and to schedule an interview with Dr. Kmita, please contact:
Communications Officer (IRCM)
Communications Director (IRCM)