Featured Research

from universities, journals, and other organizations

Jefferson Scientists Identify Gene Defect Leading To Abnormal Skin Development And Cancer

Date:
October 3, 2005
Source:
Thomas Jefferson University
Summary:
Researchers at Jefferson Medical College and at the Wadsworth Center in New York have identified a gene defect in mice resulting in a range of abnormalities, from cyclical hair loss and skin cancer to severe problems in normal skin development. The work may lead to improved treatments for skin injuries, including burns, and might have implications for diseases such as eczema and psoriasis, as well as certain cancers.

Researchers at Jefferson Medical College and at the Wadsworth Center in New York have identified a gene defect in mice resulting in a range of abnormalities, from cyclical hair loss and skin cancer to severe problems in normal skin development. The work may lead to improved treatments for skin injuries, including burns, and might have implications for diseases such as eczema and psoriasis, as well as certain cancers.

Linda Siracusa, Ph.D., associate professor of microbiology and immunology at Jefferson Medical College of Thomas Jefferson University in Philadelphia and at Jefferson's Kimmel Cancer Center and Bruce Herron, Ph.D., a research scientist at the Wadsworth Center of the New York State Department of Health and assistant professor in the Department of Biomedical Sciences at the State University of New York at Albany, wanted to identify the nature of an inherited genetic mutation in mice called repeated epilation (Er), and pinpoint the gene itself.

Mice carrying one copy of the mutation have cyclical hair loss, and develop skin cancer late in life. Mice carrying two copies have severe defects in skin development related to keratinocyte (skin cell) differentiation. At birth, they lack external openings -- the nose and mouth are covered by skin, for example -- and live only a brief time.

Previous studies had pinned the gene's location to mouse chromosome 4. Reporting October 2, 2005 in the journal Nature Genetics, the research team describes how it subsequently narrowed the region on chromosome 4 to about 800 megabases, eventually uncovering a mutation in a gene, Stratifin. Stratifin is highly expressed in the epidermis and plays a role in preventing human cancers. The researchers identified an "insertion" mutation in the gene that resulted in a damaged Stratifin protein.

"We looked at a number of inbred strains and only saw a mutation in the Stratifin gene in mice with the Er features," Dr. Herron says. When the Er mutation was "rescued" by providing a molecular carrier containing normal genetic regions of chromosome 4, the mice had normal hair development.

"We were interested in genes affecting susceptibility to the development of skin cancer, and the Er mice provided a good model," says Dr. Siracusa. The initial goal of the work was to find out what gene was responsible for the Er mutation.

"We think the mutation is potentially another player in what could be a relatively novel pathway affecting the development of hair and skin," says Dr. Herron. The Stratifin gene is present in humans, and comparable genetic defects are under investigation.

Drs. Siracusa and Herron's laboratories are continuing to collaborate to understand the mechanisms behind the gene defect's effects on skin development, hair growth and tumor development.

The researchers note that Stratifin is turned off in many cancers, suggesting it may protect cells from becoming cancerous. The Stratifin gene could help lead to a better understanding of the susceptibility to and development of epithelial cancers such as those of the breast, prostate, skin, lung, ovary and colon, and could predict a person's response to cancer therapy. Further studies may also lead to applications for hair loss treatment.


Story Source:

The above story is based on materials provided by Thomas Jefferson University. Note: Materials may be edited for content and length.


Cite This Page:

Thomas Jefferson University. "Jefferson Scientists Identify Gene Defect Leading To Abnormal Skin Development And Cancer." ScienceDaily. ScienceDaily, 3 October 2005. <www.sciencedaily.com/releases/2005/10/051003232617.htm>.
Thomas Jefferson University. (2005, October 3). Jefferson Scientists Identify Gene Defect Leading To Abnormal Skin Development And Cancer. ScienceDaily. Retrieved April 19, 2014 from www.sciencedaily.com/releases/2005/10/051003232617.htm
Thomas Jefferson University. "Jefferson Scientists Identify Gene Defect Leading To Abnormal Skin Development And Cancer." ScienceDaily. www.sciencedaily.com/releases/2005/10/051003232617.htm (accessed April 19, 2014).

Share This



More Health & Medicine News

Saturday, April 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

'Holy Grail' Of Weight Loss? New Find Could Be It

'Holy Grail' Of Weight Loss? New Find Could Be It

Newsy (Apr. 18, 2014) In a potential breakthrough for future obesity treatments, scientists have used MRI scans to pinpoint brown fat in a living adult for the first time. Video provided by Newsy
Powered by NewsLook.com
Little Progress Made In Fighting Food Poisoning, CDC Says

Little Progress Made In Fighting Food Poisoning, CDC Says

Newsy (Apr. 18, 2014) A new report shows rates of two foodborne infections increased in the U.S. in recent years, while salmonella actually dropped 9 percent. Video provided by Newsy
Powered by NewsLook.com
Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) Video provided by AP
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:
from the past week

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