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:10/16/2014)... Institute of Marine Science have received a 3-year, ... identify the streams and wetlands most vulnerable to ... local governments and citizens conserve these important ecosystems. ... of tidal-marsh observations first gathered by VIMS scientists ... can today,s researchers accurately map the slow but ...
(Date:10/16/2014)... respiratory tract infections and worldwide claims the lives ... and Ghent University have succeeded in developing a ... infection. , Xavier Saelens (VIB/UGent): "We discovered ... for the development of a novel approach to ... in numerous small children and elderly people." , ...
(Date:10/15/2014)... assess the pandemic risk from strains of influenza virus ... allow ourselves to become complacent that the most substantial ... scientists. , Influenza pandemics arise when a new virus ... widespread immunity – spreads in the human population. There ... years, the worst of which – the 1918 Spanish ...
Breaking Biology News(10 mins):EPA grant will help localities conserve headwater wetlands 2EPA grant will help localities conserve headwater wetlands 3New perspectives for development of an RSV vaccine 2Scientists 'must not become complacent' when assessing pandemic threat from flu viruses 2
... A large collaborative study has added to the ... a person will be. The research, published by Cell ... of Human Genetics , identifies uncommon and previously unknown ... the genetic architecture of other complex traits. Although ...
... Most agricultural crops require large quantities of ... for growers is finding ways to balance the ... potentially harmful nitrates that can leach into ground ... "low-input" approaches is challenging researchers to identify genotypes ...
... traditionally relied heavily on hand thinning, a necessary but ... costs and a limited workforce, peach and other stone ... string thinners to minimize the need for hand thinning. ... when it was evaluated in four U.S. growing regions; ...
Cached Biology News:Large-scale analysis identifies new genetic alterations associated with height 2Improving nitrogen use efficiency lessens environmental impact 2Hybrid string blossom thinner tested in peach orchards 2
(Date:10/20/2014)... , Oct. 20, 2014 PureTech , ... tackling big healthcare problems, announced today the closing ... with participation from Invesco Perpetual, a $120 Billion ... to drive PureTech,s existing pipeline forward and to ... has the scientific creativity to really go for ...
(Date:10/20/2014)... 20, 2014 Local veterinary surgeon, Dr. ... investigational study of donor stem cells for dogs with ... therapy and has performed clinical stem cell therapy for ... to determine if a single injection of donor stem ... help reduce pain and inflammation in the treated joints. ...
(Date:10/19/2014)... 19, 2014 NextCODE Health, which enables clinicians and ... real time, today announced the launch of its new genomic ... at the American Society of Human Genetics (ASHG) annual meeting ... sign up and apply for free beta access, visit ... benefits can be viewed here . The ...
(Date:10/19/2014)... (PRWEB) October 19, 2014 The Asia-Pacific ... Analytics market in Asia-Pacific with analysis and forecast of ... million in 2014 to $208 million by 2019, at ... 2014 to 2019. , Browse through the TOC of ... idea of the in-depth analysis provided. It also provides ...
Breaking Biology Technology:PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6Cascade Veterinary Referral Center Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2The NextCODE Exchange: The first global, real-time system for sharing full-resolution genomic data 2The NextCODE Exchange: The first global, real-time system for sharing full-resolution genomic data 3The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 2The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 3The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 4
... Calif., March 1, 2011 MAP Pharmaceuticals, Inc. (Nasdaq: ... year ended December 31, 2010. The net loss for ... to $13.4 million during the same period in 2009. The net ... compared to $9.0 million for the year ended December 31, 2009. ...
... NBS ), an international biopharmaceutical company with operations ... Smith, the Company,s Chairman and CEO, will present on Tuesday, ... Annual Analyst Conference. The Conference will be held at the ... York. Dr. Smith will present as part of Track 2: ...
... 2011 /PRNewswire-Asia-FirstCall/ -- ShengdaTech, Inc. ("ShengdaTech" or the "Company") ... nano-precipitated calcium carbonate ("NPCC") in China, today announced that ... Anhui Guo, COO and acting CFO and Mr. A. ... & Renshaw Annual China Investment Conference to be held ...
Cached Biology Technology:MAP Pharmaceuticals Reports 2010 Fourth Quarter and Year End Financial Results 2MAP Pharmaceuticals Reports 2010 Fourth Quarter and Year End Financial Results 3MAP Pharmaceuticals Reports 2010 Fourth Quarter and Year End Financial Results 4MAP Pharmaceuticals Reports 2010 Fourth Quarter and Year End Financial Results 5MAP Pharmaceuticals Reports 2010 Fourth Quarter and Year End Financial Results 6MAP Pharmaceuticals Reports 2010 Fourth Quarter and Year End Financial Results 7NeoStem to Present at Wall Street Forum 2011 Financial Conference on Tuesday, March 1 2NeoStem to Present at Wall Street Forum 2011 Financial Conference on Tuesday, March 1 3NeoStem to Present at Wall Street Forum 2011 Financial Conference on Tuesday, March 1 4ShengdaTech to Present at Rodman & Renshaw Annual China Investment Conference in Shanghai 2
Reactivity: Human...
... EasyComp Transformation Kit is designed for ... cells. Advantages over commonly used transformation ... LiCl methods include:- Cells can be made ... - Competent cell preparation and transformation solutions ...
...
... Enhancer System is used in ... optimize PCR of problematic and/or ... Enhancer Solution with 10X PCRX ... specificity broader magnesium concentration broader ...
Biology Products: