Navigation Links
Faulty gene linked to disorders of sexual development
Date:12/3/2010

Scientists have discovered that the alteration of a single gene could cause some male embryos to develop as females.

The breakthrough will improve diagnosis and clinical management of patients with disorders of sex development (DSD). These conditions occur when the testis or ovary does not develop properly in the embryo, causing genital abnormalities in one in 4500 babies.

An international team including researchers from the Murdoch Childrens Research Institute and the University of Melbourne identified the gene alteration in a group of patients including two families with several affected members.

The alteration occurred in a gene called MAP3K1, which plays a role in switching on genes that direct the gonad to become a testis. Males normally have one X and one Y chromosome and females have two X chromosomes. But researchers found that the alteration of the MAP3K1 gene disrupted the normal process of testis development, resulting in a male XY embryo developing female characteristics including female genitalia and an overall feminine appearance.

Professor Andrew Sinclair, lead researcher from the Murdoch Childrens Research Institute and the University of Melbourne said the discovery showed the underlying cause of testis failure in these patients, which would help provide a diagnosis and guide clinical management of cases in the future.

"To date, we know of only a small number of genes that are involved in gonad development, and can only diagnose about 20 per cent of DSD patients," he said.

"Based on our study, we believe mutation of the MAP3K1 gene could be responsible for a further 20 per cent of XY DSD cases. This is a major breakthrough as the MAP3K1 gene provides new insights into normal testis development and significantly increases the number of DSD cases we can diagnose in the future."


'/>"/>

Contact: Rebecca Scott
rebeccas@unimelb.edu.au
61-383-440-181
University of Melbourne
Source:Eurekalert

Page: 1

Related biology news :

1. Faulty clean-up process may be key event in Huntingtons disease
2. E. coli infection linked to long-term health problems
3. E coli infection linked to long-term health problems
4. DNA sequence variations linked to electrical signal conduction in the heart
5. Having first-degree relative with atrial fibrillation linked with increased risk
6. Drinking 100 percent fruit juice is linked to higher intake of essential nutrients
7. Eating mostly whole grains, few refined grains linked to lower body fat
8. Consuming vegetables linked to decreased breast cancer risk in African-American women
9. Study reveals cancer-linked epigenetic effects of smoking
10. Breast density linked to increased risk of subsequent breast cancer
11. Fish oil linked to increased risk of colon cancer in mice
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/24/2017)... 24, 2017 Janice Kephart , ... Identity Strategy Partners, LLP (IdSP) , today issues ... President Trump,s March 6, 2017 Executive Order: ... vetting can be instilled with greater confidence, enabling ... all refugee applications are suspended by until at ...
(Date:4/13/2017)... MONICA, Calif. , April 13, 2017 ... New York will feature emerging and evolving ... Summits. Both Innovation Summits will run alongside the expo ... of speaker sessions, panels and demonstrations focused on trending ... coast,s largest advanced design and manufacturing event will take ...
(Date:4/11/2017)... 11, 2017 No two people are ... the New York University Tandon School of Engineering ... found that partial similarities between prints are common ... mobile phones and other electronic devices can be ... vulnerability lies in the fact that fingerprint-based authentication ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... , ... October 12, 2017 , ... ... Vilnius, Lithuania, announced today that they have entered into a multiyear collaboration to ... provide CRISPR researchers with additional tools for gene editing across all applications. , ...
(Date:10/12/2017)... ... October 12, 2017 , ... BioMedGPS announces expanded coverage ... its newest module, US Hemostats & Sealants. , SmartTRAK’s US Market for Hemostats ... sealants, synthetic sealants and biologic sealants used in surgical applications. BioMedGPS estimates the ...
(Date:10/12/2017)... San Diego, CA (PRWEB) , ... ... ... BioInformatics (https://www.onramp.bio/ ) has launched Rosalind™, the first-ever genomics analysis platform ... eliminating all bioinformatics complexity. Named in honor of pioneering researcher Rosalind Franklin, ...
(Date:10/11/2017)... ... 11, 2017 , ... The CRISPR-Cas9 system has ... and avoiding the use of exogenous expression plasmids. The simplicity of programming this ... gain-of-function studies. , This complement to loss-of-function studies, such as with RNAi ...
Breaking Biology Technology: