Navigation Links
CSHL geneticists solve mystery of EEC Syndrome's variable severity in children
Date:6/14/2013

Cold Spring Harbor, NY By identifying a protein that acts as a genetic modifier, scientists at Cold Spring Harbor Laboratory (CSHL) have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants bearing the same predisposing genetic mutation bear little or no sign of the illness, called EEC.

EEC stands for "Ectodactyly, Ectodermal dysplasia, Clefting syndrome." It is rare in its full-blown form, although individual aspects of the associated pathology, such as cleft palate, are more common.

EEC has a known genetic culprit, a single-"letter" DNA mutation in a gene called p63. This error causes a mutation in the p63 protein that the gene encodes. EEC is autosomal dominant, meaning that only one parent needs to contribute the defective copy of the gene for a child to develop the illness. When one parent carries the mutant gene, each child has a 50% chance of having EEC.

"But the big question is why some children with the mutation have severe birth defects, while othersin some cases, siblings of those affectedwho bear the same p63 mutation, are mostly or entirely symptom-free," says Professor Alea Mills, Ph.D., the CSHL geneticist who led the team that has just solved this mystery.

A complex series of genetic experiments directed by Mills reveals that the presence or absence of one variant type of the p63 protein, called TAp63, determines whether or not a child with the p63 mutation will in fact develop EEC pathology. TAp63 normally protects from the birth defects, and if it is not present, pathology is certain to occur, the team's experiments showed.

Solving the mystery of variable pathology

In 1999, Mills made the first genetic "knock-out" model for p63, in mice, putting the p63 gene on the map. Mice completely lacking the p63 gene were born with birth defects similar to the severest symptoms th
'/>"/>

Contact: Peter Tarr
tarr@cshl.edu
516-367-8455
Cold Spring Harbor Laboratory
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Researchers attempt to solve problems of antibiotic resistance and bee deaths in one
2. Study resolves debate on human cell shut-down process
3. Kidney stone mystery solved
4. Could cap and trade for water solve problems facing the United States largest rivers?
5. CSHL researchers solve structure of human protein critical for silencing genes
6. New release of Web-based resource resolves confusion over plant names
7. Animal reservoir mystery solved
8. Hyenas that think outside the box solve problems faster
9. New forensic institute at the University of Leicester will help police forces solve unusual crimes
10. George Washington University Computational Biology Director solves 200-year-old oceanic mystery
11. Mount Sinai researchers solve mystery surrounding the death of two sisters nearly 50 years ago
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/10/2014)... June 27, 2014  Pomerantz LLP has filed ... ("Provectus" or the "Company")(NYSE-MKT: PVCT) and certain of ... States District Court, Middle District of ... of a class consisting of all persons or ... between December 17, 2013 and May 22, 2014, ...
(Date:7/10/2014)... 2, 2014 It is a great honor ... appointment of the world-renowned Thoracic and Cardiovascular surgeon, Mark ... Dr. Ginsburg, with over 34 years of experience, ... and Good Samaritan Regional Medical Center. Dr. Ginsburg has ... 1980,s and is considered an expert in the implantation ...
(Date:7/10/2014)... , July 7, 2014 Fingerprint ... first major design win (DW). A Chinese Top 5 smartphone ... planned start of mass production in October 2014.   ... Chinese Top 5 smartphone OEM, which has a planned date ... a target sales volume for this phone of 3 million ...
Breaking Biology News(10 mins):SHAREHOLDER ALERT: Pomerantz Law Firm Announces the Filing of a Class Action against Provectus Biopharmaceuticals, Inc. and Certain Officers - PVCT 2SHAREHOLDER ALERT: Pomerantz Law Firm Announces the Filing of a Class Action against Provectus Biopharmaceuticals, Inc. and Certain Officers - PVCT 3Avery Biomedical Devices, Inc. announces the appointment of Mark E Ginsburg, M.D. to its Board of Directors 2FPC Wins DW for 1021 Touch Sensor for Flagship Smartphone from Chinese Top 5 Smartphone OEM 2
... the first time, physicians at University Health Network and ... genes that can predict whether a patient with chronic ... treatments. , These genes could also become the basis ... predict which patients will respond to therapy. , The ...
... will allow University of Oregon scientists to replicate an ... test and understand the human body's response to everyday ... a 12-foot-square room capable of simulating altitude up to ... between 14 and 122 degrees Fahrenheit, and controlling humidity ...
... in the UK have proved that human embryonic stem cells ... cells that eventually become eggs or sperm. Their work opens ... from stem cells and used for assisted reproduction, therapeutic cloning ... and for the improved treatments for patients suffering from a ...
Cached Biology News:Identification of specific genes predicts which patients will respond to Hepatitis C treatment 2Identification of specific genes predicts which patients will respond to Hepatitis C treatment 3Going To Extremes To Improve Human Health 2Human embryonic stem cells have the potential to develop into eggs and sperm in the laboratory 2Human embryonic stem cells have the potential to develop into eggs and sperm in the laboratory 3
(Date:7/11/2014)... , July 11, 2014 /CNW/ - Sunovion Pharmaceuticals ... APTIOM TM (eslicarbazepine acetate) for use as a ... in patients with epilepsy who are not satisfactorily controlled ... for use in patients under 18 years of age. ... common neurological disorders and according to Epilepsy Canada, it ...
(Date:7/10/2014)... July 10, 2014 Deep Knowledge ... Medicine Forum on ‘Commercialising Longevity Research’ and welcomed ... to the London Bioscience Innovation Center for the ... and Aging Analytics Ltd. The meeting highlighted the ... translational research for age-related disease, as well as ...
(Date:7/10/2014)... 2014 OMICS Group’s 5th International conference ... August, 2014 at Double Tree by Hilton Beijing, China ... in Analytical & Bioanalytical research methods only to facilitate ... this occasion, Dr. Srinubabu Gedela, MD of OMICS Group ... a remarkable one in bringing a unique and international ...
(Date:7/10/2014)... , July 10, 2014  Kainos Capital, a firm ... today announced that it has acquired the Slim-Fast brand ... the business. Terms of the transaction were not disclosed. ... meal replacement business that markets ready-to-drink shakes, powders, bars ... America and in the United ...
Breaking Biology Technology:Sunovion Pharmaceuticals Canada Inc. Announces Health Canada Approval of APTIOM(TM) (eslicarbazepine acetate) as a Once-Daily Adjunctive Treatment for Partial-Onset Seizures in Patients with Epilepsy 2Sunovion Pharmaceuticals Canada Inc. Announces Health Canada Approval of APTIOM(TM) (eslicarbazepine acetate) as a Once-Daily Adjunctive Treatment for Partial-Onset Seizures in Patients with Epilepsy 3Sunovion Pharmaceuticals Canada Inc. Announces Health Canada Approval of APTIOM(TM) (eslicarbazepine acetate) as a Once-Daily Adjunctive Treatment for Partial-Onset Seizures in Patients with Epilepsy 4DKV Sponsors Forum on Commercialising Longevity Research; Brings Together Scientists, Investors, Entrepreneurs and Celebrities 2DKV Sponsors Forum on Commercialising Longevity Research; Brings Together Scientists, Investors, Entrepreneurs and Celebrities 3DKV Sponsors Forum on Commercialising Longevity Research; Brings Together Scientists, Investors, Entrepreneurs and Celebrities 4DKV Sponsors Forum on Commercialising Longevity Research; Brings Together Scientists, Investors, Entrepreneurs and Celebrities 5DKV Sponsors Forum on Commercialising Longevity Research; Brings Together Scientists, Investors, Entrepreneurs and Celebrities 6A Critical Review of Analytical Techniques for Improved Living Standards 2A Critical Review of Analytical Techniques for Improved Living Standards 3A Critical Review of Analytical Techniques for Improved Living Standards 4Kainos Capital Acquires Slim-Fast From Unilever 2
... industry news rags was making a big deal this week ... tag manufacture. Almost as a throw-away comment, the article mentioned ... 20 percent. , ,The tag manufacturer was suggesting other ... crunched when the paper was rolled up to tightly. ...
... -- The NeuronFarm, a developer of Web-based ... announced the immediate availability of its flagship product, ... skills in third through eighth graders in several ... It uses automated text scoring, engaging simulations and ...
... I.B.I.S., Inc. of Norcoss, Ga., will offer the Microsoft ... Systems in the metro Atlanta area, the two ... offers a variety of public classes from end user applications ... , , Saint Michael's Hospital in Stevens Point and ...
Cached Biology Technology:The more things change ... 2The more things change ... 3NeuronFarm's 3D-Reader ready to ship 2Tech Digest: Inacom; St. Michael's, St. Clare's hospitals; Merge eMed; Advanced Data-Comm; Blue Cross and Blue Shield 2
... been many modifications to the original formulas in ... still play an important role in tissue,culture. A ... and osmotic balance in the medium and to ... ions, is as valuable today as when it ...
Request Info...
... ion trap mass spectrometer enables high-throughput solutions ... LXQ linear ion trap mass spectrometer is ... delivering the fast cycle time and increased ... at an attractive price. The combination ...
... stain was developed specifically for reduced mutagenicity ... DNA in agarose or acrylamide gels. SYBR Safe ... bromide but SYBR Safe stain's detection sensitivity is ... stain comes as a premixed solution that can ...
Biology Products: