Featured Research

from universities, journals, and other organizations

New genetic region responsible for testicle development found

Date:
September 27, 2011
Source:
European Society for Paediatric Endocrinology
Summary:
New research has found a genetic region that may control testicle development in the fetus.

New research presented at the European Society for Paediatric Endocrinology meeting has found a genetic region that may control testicle development in the fetus.

Related Articles


Men have XY sex chromosomes, and the development of testes is thought to occur after upregulation of the testicular SOX9 gene pathway, in the presence of factor SRY on the Y chromosome. However, the mechanism by which this testicular SOX9 upregulation occurs has so far been unclear.

In this study, Dr Jacqueline Hewitt and colleagues from the Royal Children's Hospital Melbourne, Australia, used whole genome mircoarray, and subsequently fluorescence in-situ hybridisation and bioinformatic analyses, to examine the genomes of 30 children with disorders of sex development (DSD). Nine patients had 46,XX testicular DSD (meaning that although they had XX chromosomes, they had developed as males with testicles), while 21 patients had 46,XY gonadal dysgenesis (meaning that although they had XY chromosomes, they had developed as females, without testicles).

In two of the patients with 46,XX testicular DSD, the researchers found a small region, outside of the SOX9 gene, which was duplicated. Bioinformatic analysis of this duplicated region indicated that it contained an SRY/SOX binding motif, meaning the region may be a regulator of SOX9 gene activity and thus involved in testicle formation. The tandem arrangement (i.e. one after another) of the duplications implies they have either a dosage-related or structural effect on the SOX9 gene. The position of these duplications ties in with previous research in patients with a similar condition, familial 46,XX testicular DSD, which also showed that this chromosome region may be involved in testes development.

These findings address key issues in the complex gene regulation system that controls human sex development, in particular the mechanism by which the SOX9 gene is upregulated and testicles are formed in the embryo. This new gene regulatory region appears to be a missing link in the testis development system, and it is significant that duplications in this region can initiate the development of testicles in a person who has XX chromosomes. Further studies are now needed to ascertain if testis development can be initiated by switching on this region in growing cells and in developmental animal models.

Researcher Dr Jacqueline Hewitt, from the Royal Children's Hospital Melbourne, Australia, said:

"We have known for a while that for testes to form in the embryo, a key gene called SOX9 needs to be activated. However, until now, the mechanism by which this activation occurs has been unclear.

"Our research indicates that there is a gene regulatory region on chromosome 17, upstream of the SOX9 gene, which is involved in the initiation of testicle development in the fetus. This regulatory region is sited a distance away from the SOX9 gene itself, but functions to switch the gene on, allowing the formation of testicles. This illustrates the fundamental importance of not just the actual genes, but also of gene regulation systems in human development. We are only now beginning to understand the mechanisms of gene regulation, which are essential for the development of a complex organism such as a human child. This research significantly advances our understanding of how the testes develop in the human body."


Story Source:

The above story is based on materials provided by European Society for Paediatric Endocrinology. Note: Materials may be edited for content and length.


Cite This Page:

European Society for Paediatric Endocrinology. "New genetic region responsible for testicle development found." ScienceDaily. ScienceDaily, 27 September 2011. <www.sciencedaily.com/releases/2011/09/110926193529.htm>.
European Society for Paediatric Endocrinology. (2011, September 27). New genetic region responsible for testicle development found. ScienceDaily. Retrieved December 20, 2014 from www.sciencedaily.com/releases/2011/09/110926193529.htm
European Society for Paediatric Endocrinology. "New genetic region responsible for testicle development found." ScienceDaily. www.sciencedaily.com/releases/2011/09/110926193529.htm (accessed December 20, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, December 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
The Best Protein-Filled Foods to Energize You for the New Year

The Best Protein-Filled Foods to Energize You for the New Year

Buzz60 (Dec. 19, 2014) The new year is coming and nothing will energize you more for 2015 than protein-filled foods. Fitness and nutrition expert John Basedow (@JohnBasedow) gives his favorite high protein foods that will help you build muscle, lose fat and have endless energy. 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