Navigation Links
How defects in 1 gene cause 3 distinct and devastating human diseases
Date:5/29/2008

By studying heat-loving microbes, two research teams have gained new insight into how seemingly small differences in a single protein involved in DNA transcription and repair can lead to strikingly different genetic disorders in humans.

The two studies in the May 30th issue of Cell, a Cell Press publication, uncover the crystal structure and biochemical activity of an enzyme known as XPD helicase taken from Sulfolobus archaea, microbes distinct from bacteria that share many fundamental genes with humans. For reasons that had remained rather mysterious until now, point mutations in human XPDsometimes at neighboring sitescan spell the difference between cancer-prone xeroderma pigmentosa, the aging disorder known as Cockayne syndrome and another aging disorder called trichothiodystrophy.

If you consider the linear sequence of XPD and map the [disease-linked] point mutations onto it, there is nothing clear about why they would be causative for one of the three diseases or another, said Jill Fuss of The Scripps Research Institute. By having these structures for XPD, we suddenly see how it is working.

The protein from archaea is a simplified model, but that doesnt stop us learning a lot about the biology of the human enzyme, said Malcolm White of University of St Andrews, who led the other study. Archaeal protein structures are often very close matches to the equivalent proteins from humans, even though they diverged from one another three billion years ago. We can learn a lot about human health by looking deep into evolutionary time.

Archaea have particular similarities with humans and other eukaryotes in the way in which they process information, including DNA replication, transcription and repair, White explained. One of those common elements is XPD helicase, a component of a fundamental complex (known as TFIIH) with roles in initiating the transcription of genes into the templates for protein and in the repair of damaged DNA.
'/>"/>

Contact: Cathleen Genova
cgenova@cell.com
617-397-2802
Cell Press
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Another Reason Not to Smoke While Pregnant: Birth Defects
2. Cell-surface sugar defects may trigger nerve damage in multiple sclerosis patients
3. Heart Defects Can Delay Babys Brain Development
4. Hazardous Advanced Micro Devices (A.M.D.) Clean Room Chemicals Caused Multiple Birth Defects, Lawsuit Alleges
5. Procedure to detect fetal heart defects is first automated use of 3-D ultrasound
6. For babies with heart defects, death risk is far lower at most experienced hospitals
7. Babies With Heart Defects Do Best at Hospitals With Most Experience
8. Congenital heart defects increasing among IVF twins
9. Folic Acid in the Food Supply Reduces Birth Defects, but May Cause Extra Cancers, Reports the Harvard Womens Health Watch
10. Reconstructing mandibular defects with bioengineered tooth and bone
11. The Childrens Hospital of Philadelphia Opens the Worlds First Delivery Unit for Mothers Diagnosed with Birth Defects in Fetus
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/29/2015)... ... July 29, 2015 , ... ... Columbia University Medical Center, located in New York, NY, selected the ReadyCam on-site ... for physicians and scientists to immediately access worldwide TV and cable news networks ...
(Date:7/29/2015)... ... July 29, 2015 , ... Gender minority ... Since 2012, Massachusetts law has provided legal protections against discrimination on the basis ... does not protect against discrimination based on gender identity in places open to ...
(Date:7/29/2015)... ... 2015 , ... Angelo’s FabriClean, an area rug cleaning company in South Surrey, ... and rugs. The company will now reverse the damage caused by water on carpets ... overhead tank, rain leaking through an accidently left open window or a broken underground ...
(Date:7/29/2015)... ... July 29, 2015 , ... The healthcare analytics market is ... region. Factors such as the rising pressure to curb healthcare costs, big data ... venture capital investments are driving market growth. Check 149 data tables & 57 ...
(Date:7/29/2015)... ... July 29, 2015 , ... On July 26th the ... the FDA for nicotine laced liquid products. Their report says cigarette use has ... E-Cigarettes are particularly troublesome to addiction professionals as many of the candy flavors ...
Breaking Medicine News(10 mins):Health News:Columbia University Medical Center Installs a VideoLink ReadyCam® Video Studio on Campus; Medical Experts Able to Appear on Live TV at a Moment's Notice 2Health News:Columbia University Medical Center Installs a VideoLink ReadyCam® Video Studio on Campus; Medical Experts Able to Appear on Live TV at a Moment's Notice 3Health News:Fenway Health Researcher: Legal Protections in Public Settings are a Critical Public Health Issue for Transgender and Gender-Nonconforming People 2Health News:Fenway Health Researcher: Legal Protections in Public Settings are a Critical Public Health Issue for Transgender and Gender-Nonconforming People 3Health News:Angelo’s FabriClean Now Offers Water Damage Restoration For Residential and Commercial Accounts 2Health News:Healthcare Analytics Market Growing at 26.5% CAGR to 2020 2Health News:Healthcare Analytics Market Growing at 26.5% CAGR to 2020 3Health News:Healthcare Analytics Market Growing at 26.5% CAGR to 2020 4Health News:Healthcare Analytics Market Growing at 26.5% CAGR to 2020 5Health News:Harbor Village Urges South Florida Residents to Abstain from the Use of E Cigarettes 2Health News:Harbor Village Urges South Florida Residents to Abstain from the Use of E Cigarettes 3
... treat the common cold could help fight against Severe Acute ... not be available to the general public immediately. The drug ... As SARS and common cold are caused by the Corona ... with a little molecular tinkering, could be effective against SARS.// ...
... recent statistical analysis from Australia says that older people ... doctors feel that its not so much that anti-depressants ... closer attention to peoples psychological stress, help treat them. ... in recognising symptoms of depression and responding to them. ...
... disgusting images. They say that their research could help ... made a study on how brain responds to fearful ... TV screen and people were studied based on their ... areas for processing disgusting images than for fearful pictures.// ...
... Researchers have found that gene therapy can help repair ... conducted on rats to determine the effectiveness of genes ... the rats to mimic the damage that can occur ... virus to deliver proteins known as neurotrophic factors into ...
... Italian scientists have developed an electronic nose which is capable ... equipment was tested on 60 patients and proved to be ... sensors mirroring the human olfactory system. The patient is asked ... a tube. The breath is then pumped inside the cube ...
... Heart and Stroke Foundation it was found that Canadian youth ... About 30% of people in their 20s are overweight and ... About 80 per cent of adult Canadians have at least ... 10 per cent have three risk factors associated with them. ...
Cached Medicine News:
(Date:7/29/2015)... ATLANTA , July 29, 2015 ... Lab Expo, researchers will present findings that a ... disease with high accuracy, which could reduce the ... making chlamydia screening easier and cheaper. ... it because the infection often causes no symptoms, ...
(Date:7/29/2015)... LEXINGTON, Mass. , July 29, 2015 /PRNewswire/ ... webcast an investor presentation August 6, 2015 at ... Robert Clarke , Chief Executive Officer, will ... on the Company,s pipeline of inhaled therapeutics based ... Date:     Thursday, August 6, 2015 ...
(Date:7/29/2015)... , July 27, 2015 ... of the "Pharmaceutical Packaging Market by Packaging Type, ... America, Europe, Asia-Pacific, RoW) - Forecasts to 2020" ... packaging market demand, by value is estimated to reach ... packaging market is anticipated to show a steady growth ...
Breaking Medicine Technology:First Smartphone DNA Test for Chlamydia to Be Presented at 2015 AACC Annual Meeting 2First Smartphone DNA Test for Chlamydia to Be Presented at 2015 AACC Annual Meeting 3Pulmatrix to Webcast Investor Presentation and Provide Update on Pipeline of Inhaled Therapeutics August 6th 2Pharmaceutical Packaging Market by Packaging Type, Raw Material & Drug Delivery Type - Forecasts to 2020 for the $80 Billion Industry 2Pharmaceutical Packaging Market by Packaging Type, Raw Material & Drug Delivery Type - Forecasts to 2020 for the $80 Billion Industry 3
... Enhanced Equity Fund (EEF), a healthcare-focused private equity ... MedTest DX, Inc. (MedTest), a medical diagnostic company based ... the chemistry diagnostics business from Polymedco, Inc.  The transaction ...  Terms were not disclosed. "EEF is committed ...
... 19, 2011 SuccessEHS, a nationally recognized, certified ... EMR) software vendor, kicked off its annual Customer Conference ... morning, May 19, 2011. A record ... marked 34 percent increase from last year,s figures. "Spotlight ...
Cached Medicine Technology:Enhanced Equity Fund and James White Invest in MedTest DX, Inc. 2SuccessEHS "Spotlight on Success" Customer Conference Begins 2
... Control of thumb motion can be ... stroke, for persons with spinal cord injuries ... due to cerebral palsy or other motor ... positions the thumb for control and coordination. ...
... Soft, foam-lined FoamWrap ThumWrap Splints offer support ... Ideal to relieve mild pain or strain ... activities. Choose either the rigid or the ... amount of support. Washable and breathable, the ...
... CTi Wrist OTS is an off-the-shelf wrist orthotic designed ... of 3 pre-set ranges-of-motion (20°,35° and 50°). , ... sprains with TFCC tear-triangular fibrocartilage complex , ... nonunion , Partial tendon rupture , ...
Contoured design provides secure support and immobilization of the wrist and distal forearm while preserving finger mobility...
Medicine Products: