Featured Research

from universities, journals, and other organizations

New method for identifying the causes of X-linked genetic disorders

Date:
July 7, 2010
Source:
Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health
Summary:
Scientists have identified previously unknown potential disease genes in humans and mice. Genes on the X chromosome, which regulate embryonic development, are the focus of the current study. Men have only one X chromosome, and therefore mutations on this chromosome disproportionately affect males, frequently leading to serious diseases such as hemophilia, muscular dystrophy and mental retardation.

An international consortium of scientists of Helmholtz Zentrum Mόnchen and the University of Toronto has identified previously unknown potential disease genes in humans and mice.

Genes on the X chromosome, which regulate embryonic development, are the focus of the current publication in the journal Genome Research. Men have only one X chromosome, and therefore mutations on this chromosome disproportionately affect males, frequently leading to serious diseases such as hemophilia, muscular dystrophy and mental retardation.

Scientists of Helmholtz Zentrum Mόnchen led by Dr. Heiko Lickert, principal investigator at the Institute of Stem Cell Research, in cooperation with the group led by Professor Janet Rossant at the Hospital for Sick Children in Toronto, investigated which X-linked genes are relevant to disease. They reported their findings in Genome Research, a leading journal on human genetics.

In cooperation with the Gene Trap Consortium coordinated by Professor Wolfgang Wurst of the Institute of Developmental Genetics, 58 genes were tested. That corresponds to 10 percent of the syntenic* genes on the X chromosome. 17 of these 58 genes are essential for embryonic development and for 9 of these genes, mouse models for human diseases were generated. These models will be studied in detail in follow-up studies in order to gain new insights about the causes of human diseases.

For the first time, the effect of the respective mutation on embryonic development could be shown without generating individual mouse models. Until now, mutation screens were essential to close such knowledge gaps, but such screens are associated with much effort and expense. "This study brings us much closer to our goal of understanding the genetic causes of all X-linked diseases," Dr. Lickert said.

Background

Except for the sex chromosomes, the chromosomes in the human genome occur in pairs. While women have two X chromosomes, men have only one X chromosome and one considerably smaller Y chromosome. That is why for a multitude of genes, men do not have a second copy which could inactivate mutations. In men, X-linked mutations lead to an above-average number of diseases.

* Synteny: Commonalities in the sequence of genes or gene fragments on different chromosome segments when comparing different species (here human and mouse).


Story Source:

The above story is based on materials provided by Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health. Note: Materials may be edited for content and length.


Journal Reference:

  1. B. J. Cox, M. Vollmer, O. Tamplin, M. Lu, S. Biechele, M. Gertsenstein, C. van Campenhout, T. Floss, R. Kuhn, W. Wurst, H. Lickert, J. Rossant. Phenotypic annotation of the mouse X chromosome. Genome Research, 2010; DOI: 10.1101/gr.105106.110

Cite This Page:

Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health. "New method for identifying the causes of X-linked genetic disorders." ScienceDaily. ScienceDaily, 7 July 2010. <www.sciencedaily.com/releases/2010/07/100707065141.htm>.
Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health. (2010, July 7). New method for identifying the causes of X-linked genetic disorders. ScienceDaily. Retrieved July 28, 2014 from www.sciencedaily.com/releases/2010/07/100707065141.htm
Helmholtz Zentrum Muenchen - German Research Centre for Environmental Health. "New method for identifying the causes of X-linked genetic disorders." ScienceDaily. www.sciencedaily.com/releases/2010/07/100707065141.htm (accessed July 28, 2014).

Share This




More Health & Medicine News

Monday, July 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

$15B Deal on Vets' Health Care Reached

$15B Deal on Vets' Health Care Reached

AP (July 28, 2014) — A bipartisan deal to improve veterans health care would authorize at least $15 billion in emergency spending to fix a veterans program scandalized by long patient wait times and falsified records. (July 28) Video provided by AP
Powered by NewsLook.com
Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) — Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) Video provided by AP
Powered by NewsLook.com
West Africa Gripped by Deadly Ebola Outbreak

West Africa Gripped by Deadly Ebola Outbreak

AFP (July 28, 2014) — The worst-ever outbreak of the deadly Ebola epidemic grips west Africa, killing hundreds. Duration: 00:48 Video provided by AFP
Powered by NewsLook.com
Trees Could Save More Than 850 Lives Each Year

Trees Could Save More Than 850 Lives Each Year

Newsy (July 27, 2014) — A national study conducted by the USDA Forest Service found that trees collectively save more than 850 lives on an annual basis. Video provided by Newsy
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:
from the past week

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