Featured Research

from universities, journals, and other organizations

Important discovery for diagnosis of genetic diseases

Date:
January 16, 2014
Source:
Institut de recherches cliniques de Montreal
Summary:
A new study shows the importance of the chromatin architecture in controlling the activity of genes, especially those required for proper embryonic development. This discovery could have a significant impact on 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.

Related Articles


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 they regulate."

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 genetic diseases."

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).


Story Source:

The above story is based on materials provided by Institut de recherches cliniques de Montreal. Note: Materials may be edited for content and length.


Journal Reference:

  1. Soizik Berlivet, Denis Paquette, Annie Dumouchel, David Langlais, Josée Dostie, Marie Kmita. Clustering of Tissue-Specific Sub-TADs Accompanies the Regulation of HoxA Genes in Developing Limbs. PLoS Genetics, 2013; 9 (12): e1004018 DOI: 10.1371/journal.pgen.1004018

Cite This Page:

Institut de recherches cliniques de Montreal. "Important discovery for diagnosis of genetic diseases." ScienceDaily. ScienceDaily, 16 January 2014. <www.sciencedaily.com/releases/2014/01/140116113512.htm>.
Institut de recherches cliniques de Montreal. (2014, January 16). Important discovery for diagnosis of genetic diseases. ScienceDaily. Retrieved February 27, 2015 from www.sciencedaily.com/releases/2014/01/140116113512.htm
Institut de recherches cliniques de Montreal. "Important discovery for diagnosis of genetic diseases." ScienceDaily. www.sciencedaily.com/releases/2014/01/140116113512.htm (accessed February 27, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, February 27, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Reuters - Innovations Video Online (Feb. 27, 2015) — A dongle that plugs into a Smartphone mimics a lab-based blood test for HIV and syphilis and can detect the diseases in 15 minutes, say researchers. Tara Cleary reports. Video provided by Reuters
Powered by NewsLook.com
Doctor Says Head Transplants Possible Within Two Years

Doctor Says Head Transplants Possible Within Two Years

Buzz60 (Feb. 27, 2015) — An Italian doctor is saying he could stick someone&apos;s head onto someone else&apos;s body. Patrick Jones (@Patrick_E_Jones) reports. Video provided by Buzz60
Powered by NewsLook.com
How Your Dentist Could Help Screen You For Diabetes

How Your Dentist Could Help Screen You For Diabetes

Newsy (Feb. 27, 2015) — A new study from researchers at New York University suggests dentists could soon use blood samples taken from patients&apos; mouths to test for diabetes. Video provided by Newsy
Powered by NewsLook.com
The Best Tips to Makeover Your Health

The Best Tips to Makeover Your Health

Buzz60 (Feb. 27, 2015) — If you&apos;re looking to boost your health this season, there are a few quick and easy steps to prompt you for success. Krystin Goodwin (@Krystingoodwin) has the best tips to give your health a makeover this spring! Video provided by Buzz60
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins