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:5/24/2016)... , May 24, 2016 Ampronix facilitates superior patient care by providing ...  3D medical LCD display is the latest premium product recently added to the range ... ... ... Sony 3d Imaging- LCD Medical Display- Ampronix News ...
(Date:5/3/2016)... , May 3, 2016  Neurotechnology, a ... the MegaMatcher Automated Biometric Identification System (ABIS) ... large-scale multi-biometric projects. MegaMatcher ABIS can process multiple ... using any combination of fingerprint, face or iris ... MegaMatcher SDK and MegaMatcher Accelerator , ...
(Date:4/19/2016)... The new GEZE SecuLogic access ... "all-in-one" system solution for all door components. It can ... door interface with integration authorization management system, and thus ... minimal dimensions of the access control and the optimum ... offer considerable freedom of design with regard to the ...
Breaking Biology News(10 mins):
(Date:6/27/2016)...   Ginkgo Bioworks , a leading organism ... today awarded as one of the World Economic ... most innovative companies. Ginkgo Bioworks is engineering biology ... world in the nutrition, health and consumer goods ... customers including Fortune 500 companies to design microbes ...
(Date:6/24/2016)... 2016 Epic Sciences unveiled a liquid ... to PARP inhibitors by targeting homologous recombination deficiency ... new test has already been incorporated into numerous ... types. Over 230 clinical trials are ... including PARP, ATM, ATR, DNA-PK and WEE-1. Drugs ...
(Date:6/24/2016)... ... , ... Researchers at the Universita Politecnica delle Marche in Ancona combed medical ... mesothelioma. Their findings are the subject of a new article on the Surviving Mesothelioma ... in the blood, lung fluid or tissue of mesothelioma patients that can help point ...
(Date:6/23/2016)... ... June 23, 2016 , ... UAS LifeSciences, ... launch of their brand, UP4™ Probiotics, into Target stores nationwide. The company, which ... to add Target to its list of well-respected retailers. This list includes such ...
Breaking Biology Technology: