Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Chromosomal break gives scientists a break in finding new puberty gene

01.10.2010
A break in the two chromosomes has given scientists a break in finding a new gene involved in puberty, Medical College of Georgia researchers report.

It's also helped clear up why some patients with delayed puberty have no sense of smell, said Dr. Lawrence C. Layman, chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics.

The WRD11 gene interacts with a transcription factor that appears to be involved in development of gonadotropin releasing hormones that enable sexual maturation as well as olfactory neurons in the brain, according to a study published in The American Journal of Human Genetics and funded by the National Institutes of Health. A genetic mutation can diminish or eliminate this important interaction, impairing puberty and the sense of smell.

This was first found in a patient with Kallmann syndrome – delayed puberty coupled with the inability to smell. Next, a variety of WRD11mutations were identified in five other patients with delayed puberty, some of whom also had no sense of smell.

The findings provide insight into normal puberty as well as rare situations in which children don't sexually mature. "Even something that causes a rare disease can have an extremely important function in normal physiology," Layman said. A longer-term goal is finding better therapies for delayed puberty and perhaps alternative birth control methods.

Girls normally develop breasts by age 13 and menstruate by 15. Boys' testicles generally develop by age 14. Sex hormones can be prescribed to prompt puberty when it is delayed but more complex and expensive therapy is required to enable fertility. The therapy can lead to multiple births and related problems such as prematurity.

Layman, who receives blood samples of children and young adults with delayed puberty from across the globe, said the misplacement of portions of two chromosomes in the Kallmann patient worked like a global positioning system to help narrow down the gene search.

The patient had pieces of chromosome 10 on chromosome 12 and vice versa; such recombinations are fairly common and not necessarily bad. But knowing that a recombination can disrupt a gene's function, the researchers analyzed a handful of genes in the immediate vicinity of the break before finding WRD11.

They still have to determine whether the chromosomal swapping had anything to do with the gene dysfunction in this case but the five other patients who had WRD11 mutations did not have the translocation. "Either way, it helped point us in the right direction," said Layman, a corresponding author on the study along with lead author Dr. Hyung-Goo Kim, molecular geneticist in Layman's lab.

"Performing genetic analysis in rare individuals harboring balanced chromosomal locations opens an important portal in the hunt for disease genes," noted Kim, who established the Developmental Gene Discovery Project at MCG to identify genes involved in a wide variety of human genetic disorders.

Layman recently received a $1.5 million grant from the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development to learn more about how several of these puberty genes work.

The scientists will be looking further at WRD11, but also CHD7, a gene Kim and Layman identified in 2008, as well as the NELF gene, for fundamentals such as function and frequency. They will also look at more patients and their families to see if they have the same or different genetic variations.

"We have to know, for example, if they are transcription factors, which we think both CHD7 and NELF are. This means that they go into the cell nucleus and turn on expression of other genes," Layman said. "We also have to know what they bind to. It may be that some of these genes work in the same pathway."

Counting WRD11, there are now at least 17 known puberty genes and evidence suggests multiple genetic mutations are involved in some patients. Layman suspects that plenty of those genes are still unknown.

Toni Baker | EurekAlert!
Further information:
http://www.mcg.edu

More articles from Life Sciences:

nachricht Transport of molecular motors into cilia
28.03.2017 | Aarhus University

nachricht Asian dust providing key nutrients for California's giant sequoias
28.03.2017 | University of California - Riverside

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: A Challenging European Research Project to Develop New Tiny Microscopes

The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.

To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Transport of molecular motors into cilia

28.03.2017 | Life Sciences

A novel hybrid UAV that may change the way people operate drones

28.03.2017 | Information Technology

NASA spacecraft investigate clues in radiation belts

28.03.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>