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 inNew York have identified a gene defect in mice resulting in a range ofabnormalities, from cyclical hair loss and skin cancer to severeproblems in normal skin development. The work may lead to improvedtreatments for skin injuries, including burns, and might haveimplications for diseases such as eczema and psoriasis, as well ascertain cancers.

Related Articles


Linda Siracusa, Ph.D., associate professor of microbiology andimmunology at Jefferson Medical College of Thomas Jefferson Universityin Philadelphia and at Jefferson's Kimmel Cancer Center and BruceHerron, Ph.D., a research scientist at the Wadsworth Center of the NewYork State Department of Health and assistant professor in theDepartment of Biomedical Sciences at the State University of New Yorkat Albany, wanted to identify the nature of an inherited geneticmutation in mice called repeated epilation (Er), and pinpoint the geneitself.

Mice carrying one copy of the mutation have cyclical hair loss, anddevelop skin cancer late in life. Mice carrying two copies have severedefects in skin development related to keratinocyte (skin cell)differentiation. At birth, they lack external openings -- the nose andmouth 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 researchteam describes how it subsequently narrowed the region on chromosome 4to about 800 megabases, eventually uncovering a mutation in a gene,Stratifin. Stratifin is highly expressed in the epidermis and plays arole in preventing human cancers. The researchers identified an"insertion" mutation in the gene that resulted in a damaged Stratifinprotein.

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

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

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

Drs. Siracusa and Herron's laboratories are continuing to collaborateto understand the mechanisms behind the gene defect's effects on skindevelopment, 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 Stratifingene could help lead to a better understanding of the susceptibility toand development of epithelial cancers such as those of the breast,prostate, skin, lung, ovary and colon, and could predict a person'sresponse to cancer therapy. Further studies may also lead toapplications 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 December 21, 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 December 21, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, December 21, 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