Navigation Links
Study implicates new epigenetic player in mental retardation and facial birth defects
Date:7/12/2010

the twisting double-helix strands actually spool around clusters of proteins called histones with protruding "tails" that act like specialized antennas, transmitting directions for DNA. This dynamic structure, called chromatin, extends the genetic code by offering, measuring or limiting access to different genes.

Several years ago, Shi and his colleagues identified the first enzyme that can detach a molecule known as a methyl group, previously thought to be a permanent fixture, from the histones tails. Then his team and a number of other research groups independently discovered members of a second known family of these enzymes, known collectively as histone demethylases.

The latest study began with a gene mutated in several male patients with X-linked mental retardation and craniofacial abnormalities. The gene codes for an enzyme that looked a lot like a member of the second family of histone demethylases. The mutations in these patients abolished the working part of the enzyme that plucks the methyl group from the histone tail.

Led by Hank Qi, PhD, co-first author and postdoctoral fellow, the researchers demonstrated in human cells that the enzyme, PHF8, indeed works as a histone demethylase. (And it is the first known demethylase discovered for a strategic methylation point on the tail of histone 4 known as H4K20, which other evidence suggests plays a critical role in gene expression and regulation and in the DNA damage response.) In this case, by removing the methyl group, the enzyme appears to maintain active gene transcription.

"The histone methylation and demethylation doesn't turn the gene on or off," Qi says. "When this histone mark changes, it generates an equilibrium important for fine-tuning gene expression."

Despite its widespread presence, the enzyme seems to have a narrowly targeted biological effect on a master genetic regulator of craniofacial development, the transcription factor MSX1. Taking a cue from
'/>"/>

Contact: Erin McColgan
erin.mccolgan@childrens.harvard.edu
617-919-3110
Children's Hospital Boston
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. LSUHSC study finds early predictors of metabolic syndrome in healthy 7-9 year-olds
2. New UC Davis study finds early Alzheimers identification method
3. Rat Study Sheds Light on Cocaine Addiction
4. Study: Medicare policy may account for growing length of hospice stays in nursing homes
5. Study Suggests Link Between HPV, Skin Cancer
6. Drug study shows improvement in major orthopedic surgery care
7. Study suggests link between scleroderma, cancer in certain patients
8. Fish Oil Supplements Linked to Lower Risk of Breast Cancer: Study
9. Study finds patients benefit from thorough discussion of recommended operations
10. Many Docs Deliver Cancer Diagnosis Badly: Study
11. Study: Higher-protein diets support weight loss, but may lower bone density in postmenopausal women
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/31/2014)... Alexandria, VA (PRWEB) July 31, 2014 ... Mesothelioma Applied Research Foundation, mesothelioma expert and executive ... APRN, stated that mesothelioma patients today have more promising ... In her talk, she mentioned several trials that have ... novel radiation treatments, while the focus of others is ...
(Date:7/31/2014)... Congress with bipartisan support would allow Medicare to test ... could improve the health of patients with chronic illness ... tests they need most. , The bill, introduced last ... grew out of a decade of work by health ... Policy and Innovation. It would allow Medicare Advantage plans ...
(Date:7/31/2014)... 31, 2014 Jacuzzi Luxury Bath, ... bathtub, has launched a new and improved website to ... , The Jacuzzi Luxury Bath website has been redesigned ... design and quality represented by the company’s products. The ... design and inspirational bathroom applications. “The site reflects our ...
(Date:7/31/2014)... at The Wistar Institute discovered that mice lacking ... age-related illnesses. The mice, which lack the TRAP-1 ... and spontaneous tumor formation when compared to normal ... the metabolic networks within cells. , In ... metabolism and has been shown to regulate energy ...
(Date:7/31/2014)... July 31, 2014 Global Markets ... provides an overview of the Brain Cancers therapeutic ... the therapeutic development for Brain Cancer, complete with ... drug target, mechanism of action (MoA), route of ... updates, and featured news and press releases. It ...
Breaking Medicine News(10 mins):Health News:‘More Promising Mesothelioma Clinical Trials than Ever Before,’ Says Expert 2Health News:‘More Promising Mesothelioma Clinical Trials than Ever Before,’ Says Expert 3Health News:Jacuzzi Luxury Bath Launches New and Improved Website 2Health News:'Rewired' mice show signs of longer lives with fewer age-related illnesses 2Health News:'Rewired' mice show signs of longer lives with fewer age-related illnesses 3Health News:Global Brain Cancer Market Size, Share, Analysis, Trends and Forecasts 2014 2Health News:Global Brain Cancer Market Size, Share, Analysis, Trends and Forecasts 2014 3Health News:Global Brain Cancer Market Size, Share, Analysis, Trends and Forecasts 2014 4
... October is National Physical Therapy,month and to ... Michigan residents to "Become a Physical Therapist or ... face uncertain economic times, the,physical therapy profession continues ... Director Aaron Bailey, PT, says there,is an urgent ...
... Oct. 30 Today URAC announced the,rollout ... technology,standards. The changes affect Health Web Site ... (Logo: http://www.newscom.com/cgi-bin/prnh/20030501/URACLOGO ), URAC, ... Privacy and Security standards to emphasize the ...
... International has named John T. Kelly, M.D., Ph.D. Chief Medical Officer. ... health and wellness of the users of Lifeclinic,s blood pressure monitors, ... ... MD (PRWEB) October 30, 2008 -- Lifeclinic International has ...
... CLEMSON Clemson University researchers developing imaging agents to ... received $180,000 from the Susan G. Komen Breast Cancer ... cancer deaths in American women. , The new method ... resonance imaging) that may help researchers look at different ...
... kick off American,Diabetes Month this November, the American ... Detroit, along with Eli,Lilly and Company,s national educational ... Diabetes Update, an educational program for people affected ... Saturday, November 1, at the Greater,Grace Temple, 23500 ...
... many hospitals have not,taken full advantage of opportunities ... see significant improvements in clinical,efficiencies, patient safety and ... Kermit Randa of Surgical Information Systems (SIS) and ... benefits realized through the,implementation of a best of ...
Cached Medicine News:Health News:The Physical Therapy Profession Remains in High Demand 2Health News:The Physical Therapy Profession Remains in High Demand 3Health News:URAC Rolls Out Revised Standards to Protect Personal Health Information and Boost Consumer Privacy on the Web 2Health News:Lifeclinic International Has Named John T. Kelly, M.D., Ph.D. Chief Medical Officer 2Health News:Susan G. Komen Breast Cancer Foundation awards grant for imaging-agent research 2Health News:American Diabetes Association and Eli Lilly and Company Unite to Educate and Empower African-Americans with Diabetes 2Health News:American Diabetes Association and Eli Lilly and Company Unite to Educate and Empower African-Americans with Diabetes 3Health News:Healthcare Providers Improve Financial, Clinical and Operational Efficiencies Through IT 2
(Date:7/31/2014)... July 31, 2014 TB Alliance, a ... better, faster and affordable treatments, announced the appointment ... President, External Affairs. Mr. Brock comes to TB ... Major Donor Relations for WWF International (formerly known ... Mr. Brock will guide the TB Alliance,s resource ...
(Date:7/31/2014)... -- Genomic Health, Inc. (Nasdaq: GHDX ) today announced ... on Thursday, August 7 at 4:30 p.m. Eastern Time to ... webcast will follow the release of the second quarter financial ... access the live conference call on August 7 at 4:30 ... the United States and ...
(Date:7/31/2014)... 31 2014  Northsight Capital, Inc. (OTCBB: NCAP) announced today ... Chairman and CEO of the company. Mr. Bluher has ... business development and investment banking. Mr. Bluher has over ... his career on Wall Street, Mr. Bluher was also ... Securities and Exchange Commission in Washington D.C. ...
Breaking Medicine Technology:TB Alliance Appoints Willo Brock Senior Vice President, External Affairs 2Genomic Health to Announce Second Quarter 2014 Financial Results and Host Conference Call on Thursday, August 7, 2014 2Genomic Health to Announce Second Quarter 2014 Financial Results and Host Conference Call on Thursday, August 7, 2014 3Genomic Health to Announce Second Quarter 2014 Financial Results and Host Conference Call on Thursday, August 7, 2014 4Northsight Capital, Inc. Names Wall Street Veteran John Bluher, Former EVP And General Counsel Of Knight Trading Group, Chairman And CEO. 2
... Alfacell Corporation,(Nasdaq: ACEL ) today announced that ... corporate secretary, will present an,overview of the company,s product ... at the UBS Global Life Sciences Conference at the ... Webcast of the presentation will be available on Alfacell,s,Web ...
... presented at the 43rd European Association for the Study of ... ... presented,today at the 43rd Annual Meeting of the European Association for ... the risk of ischemic cardiovascular disease in patients with type 2,diabetes. ...
Cached Medicine Technology:Alfacell Corporation to Present at UBS Global Life Sciences Conference 2ACTOS(R) (pioglitazone HCl) Demonstrates Reduced Risk of Ischemic Cardiovascular Disease in Patients with Type 2 Diabetes 2ACTOS(R) (pioglitazone HCl) Demonstrates Reduced Risk of Ischemic Cardiovascular Disease in Patients with Type 2 Diabetes 3
... (TSH) is a 32 kDa glycoprotein secreted ... pituitary gland [1]. The structure of human ... pituitary and placental gonadotropins, consisting of an ... these hormones and a unique beta-subunit, which ...
... (T4) is the primary active hormone synthesized ... gland [1]. T4 is synthesized via a ... by the follicular cells, (ii) iodination of ... to formation of 3-monoiodotyrosine and 3,5-diiodotyrosine (MIT ...
... produced primarily by 5-monodeioination of thyroxine (T4) ... T3 production occurs at a rate which ... Release of T3 from the thyroid gland ... compared to 80-100 micrograms/day for T4. In ...
... protein-3 (IGFBP-3) is the main binding protein for ... component of the ~150 kDa ternary complex. This ... or IGF-II and ALS, allowing IGFBP-3, along with ... The molar concentration of IGFBP-3 in normal serum ...
Medicine Products: