HOME >> BIOLOGY >> NEWS
Human disease gene survey yields underlying principles

code receptors; and genes that encode transcription factors.

Valle and his colleagues next scored each gene in these four major categories based on the clinical features of the diseaseincluding age of onset, mode of inheritance, frequency, severity, extent of tissue involvement and association with malformations.

The analysis yielded a number of striking general insights, said Valle. For example, the scientists found that genes that encoded transcription factors are over-represented among genes that cause malformation diseases that begin in utero. This frequency, said Valle, reflects the importance of transcription factors in embryonic development.

The analyses also indicated that "an extraordinarily high" fraction of diseases with onset in the first year of life are caused by defects in genes that encode enzymes. Such a finding is expected, wrote the scientists, because the mothers metabolic system protects the fetus from enzyme deficiencies until birth. Metabolic deficiencies are usually identified after birth.

The scientists found that diseases caused by genes that encode enzymes are primarily recessive, while those caused by genes whose proteins influence other proteins are evenly split between dominant and recessive. Also, diseases caused by transcription factors are more likely to be dominant, found the researchers.

Each of the four major functional categories of gene showed a different peak age of onset, found the scientists. Diseases due to transcription factors peaked in utero; those due to enzymes in the first year; those for receptors between one year and puberty, and those due to protein modifiers in early adulthood.

"These insights represent only the beginning of the kinds of discoveries of general principles that can be made as a comprehensive list of disease genes is developed and compared to the list of all human genes," said Valle. "Clearly, the human genome projects will enable us to make this
'"/>

Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
11-Feb-2001


Page: 1 2 3

Related biology news :

1. Human chromosome 5 final sequence analysis released to public
2. Humans march to a faster genetic drummer than primates, UC Riverside research says
3. Applied Mathematical Models in Human Physiology
4. Human health risks in space flight focus of research internships
5. Human periodontal ligament stem cells isolated for the first time
6. Organization for Human Brain Mapping 2004 Annual Meeting
7. 20 May AAAS lecture: Computers that Respond to Human Emotion
8. Human brain works heavy statistics learning language
9. New Woods Hole Center for Oceans and Human Health established
10. European Society of Human Reproduction and Embryology conference - June 2004
11. Human genome-wide RNAi library for biotech and pharma research

Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Human disease gene survey yields underlying principles

(Date:5/18/2015)... , May 18, 2015 Fingerprint Cards ... FPC1020, FPC1025, FPC1145, FPC1155 and FPC1035 from one if its ... until and including Q3 2015 and the sensors will be ... Communicated order values for 2015 hereby amount to 740 MSEK ... 2015 of 140 MSEK and a number of smaller orders ...
(Date:5/11/2015)... JOSE, Calif. , May 11, 2015 /PRNewswire/ ... developer of human interface solutions, today announced the ... Vice President and Chief Financial Officer, reporting to ... Ali replaces Synaptics, current Chief Financial Officer, ... December 2014. Mr. Ali brings ...
(Date:5/10/2015)... Fingerprint Cards (FPC) has received an ... the distributor World Peace Industrial Group (WPI), part of WPG ... Asia . Deliveries are planned to take place during ... manufacturers in China . The order value ... of + 1 000 MSEK for 2015.   Jörgen ...
Breaking Biology News(10 mins):Fingerprint Cards Receives Touch Fingerprint Sensor Order of SEK 230 Million and Raises Revenue Guidance for 2015 2Synaptics Appoints Wajid Ali as Senior Vice President and Chief Financial Officer 2Fingerprint Cards Receives Touch Fingerprint Sensor Order of SEK 235 Million 2
(Date:5/27/2015)... 2015 Empowering biomedical researchers with ... Cubresa Inc. today announced its MR Compatible Small ... PET Scanner uses silicon photomultiplier detector technology, so ... machines from manufacturers like Bruker and Agilent,” said ... Canada. “This enables simultaneous PET and MRI data ...
(Date:5/27/2015)... NEW YORK , May 27, 2015  US-Australian drug ... NVGN ), announced today that it will present at the ... New York on May 29, 2015. The venue ... Manhattan . The Brain ... biotechnology companies, the pharmaceutical industry and the investment community to ...
(Date:5/26/2015)... May 26, 2015 Regenestem Network ... stem cells clinic in Buenos Aires, Argentina. The clinic ... critical care specialist. Pastrana has assembled a multidisciplinary team ... orthopedics in her state-of-the-art Puerto Madero office. , ... I to phase IV clinical studies in cellular therapies, ...
(Date:5/26/2015)... May 26, 2015  Sangamo BioSciences, Inc. (NASDAQ: SGMO ... and CEO, will provide an update on the progress of ... of the company,s business strategy at 1:30pm ET on Monday, ... The conference is being held in New York, ... live and may be accessed via a link on the ...
Breaking Biology Technology:Cubresa Launches Simultaneous PET/MRI Technology 2Novogen to Present at Brain Tumor Biotech Summit 2015 2Novogen to Present at Brain Tumor Biotech Summit 2015 3Novogen to Present at Brain Tumor Biotech Summit 2015 4Novogen to Present at Brain Tumor Biotech Summit 2015 5Regenestem Network and Silvina Pastrana, M.D. Announce the Opening of a New Stem Cell Clinic in Buenos Aires 2Regenestem Network and Silvina Pastrana, M.D. Announce the Opening of a New Stem Cell Clinic in Buenos Aires 3Sangamo BioSciences Announces Presentation At The Jefferies 2015 Global Healthcare Conference 2
Cached News: