Important discovery for the diagnosis of genetic diseases

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 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 they regulate."

To date, studying the causes of 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 genetic diseases."

The IRCM researchers' scientific breakthrough could have an impact on a large number of genetic diseases, including those associated with the Hox 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).

More information: www.plosgenetics.org/article/i… journal.pgen.1004018

add to favorites email to friend print save as pdf

Related Stories

What mechanism generates our fingers and toes?

Dec 14, 2012

Dr. Marie Kmita and her research team at the IRCM contributed to a multidisciplinary research project that identified the mechanism responsible for generating our fingers and toes, and revealed the importance of gene regulation ...

Physical reason for chromosome shape discovered

Jan 14, 2014

Researchers from the Universitat Autònoma de Barcelona have determined why metaphase chromosomes have their characteristic elongated cylindrical shape. The results show that this morphology is related to ...

Methylation linked to metabolic disease

Nov 11, 2013

(Medical Xpress)—In the first in-depth analysis of DNA methylation in fat, a process that affects the regulation of genes, researchers have linked regions of methylation to metabolic traits such as high ...

Recommended for you

Changes in scores of genes contribute to autism risk

20 hours ago

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium (ASC), and published today in the journal Nature.

Dozens of genes associated with autism in new research

20 hours ago

Two major genetic studies of autism, led in part by UC San Francisco scientists and involving more than 50 laboratories worldwide, have newly implicated dozens of genes in the disorder. The research shows ...

Genetic link to kidney stones identified

Oct 29, 2014

A new breakthrough could help kidney stone sufferers get an exact diagnosis and specific treatment after genetic links to the condition were identified.

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.