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:7/8/2015)... LAKES , N.J. and NEW YORK ... Company) and Guidepoint today announced BD ... start-up healthcare companies with free access to Guidepoint,s expert ... several start-ups that are developing cutting-edge technologies to improve ... a dedicated Guidepoint research manager, each start-up entrepreneur will ...
(Date:7/7/2015)... -- Research and Markets ( ... "Capacitive Fingerprint Sensors Patent Landscape" report ... fingerprint sensing technology is the most reliable and ... developed. This patent landscape focuses on fingerprint sensors ... of capacitive fingerprint sensors is closely linked to ...
(Date:7/2/2015)... , June 25, 2015 ... the addition of the "Natural Language Processing ... (Recognition, IVR, OCR, Pattern & Image Recognition) - ... offering. The key vendors occupying the ... IBM Corporation, Microsoft Corporation, NetBase Solutions, SAS Institute ...
Breaking Biology News(10 mins):BD and Guidepoint Team to Connect Healthcare Start-up Companies With Business and Scientific Experts 2BD and Guidepoint Team to Connect Healthcare Start-up Companies With Business and Scientific Experts 3Worldwide Capacitive Fingerprint Sensors Patent Landscape Market Report 2015-2020 - Main IP Holders include Seiko Epson, AuthenTec, Sony and STMicroelectronics 2Natural Language Processing Market by Type (Rule-Based, Statistical, and Hybrid), Technologies (Recognition, IVR, OCR, Pattern & Image Recognition) - Worldwide Forecast to 2020 2
(Date:7/30/2015)... ... July 30, 2015 , ... ... a field clinical study of its canine osteoarthritis stem cell product, currently under ... (Kansas City, KS) and will be marketed in the US by Aratana. This ...
(Date:7/30/2015)... 30, 2015   Senomyx , Inc. (NASDAQ: ... technologies to discover, develop, and commercialize novel flavor ingredients ... reported financial results for the second quarter 2015. ... we remain on track to achieve our commercial and ... Officer of the Company. "Since our last quarterly earnings ...
(Date:7/30/2015)... , July 30, 2015 Ascendis Pharma ... that applies its innovative TransCon technology to address ... results from a six-month Phase 2 study to ... Growth Hormone in 53 treatment-naïve, pre-pubertal children with ... are extremely pleased with the top-line results from ...
(Date:7/30/2015)... 2015  Discovery Laboratories, Inc. (Nasdaq: DSCO ... second $1.0M tranche under a previously awarded Phase ... at up to $3.0 million to support continued ... a potential medical countermeasure to mitigate acute and ... an initial $1.0 million under this grant in ...
Breaking Biology Technology:VetStem Biopharma Successfully Completes Large Milestone Efficacy Study for its Flagship Canine Osteoarthritis Stem Cell Product 2VetStem Biopharma Successfully Completes Large Milestone Efficacy Study for its Flagship Canine Osteoarthritis Stem Cell Product 3SENOMYX ANNOUNCES SECOND QUARTER 2015 FINANCIAL RESULTS 2SENOMYX ANNOUNCES SECOND QUARTER 2015 FINANCIAL RESULTS 3SENOMYX ANNOUNCES SECOND QUARTER 2015 FINANCIAL RESULTS 4SENOMYX ANNOUNCES SECOND QUARTER 2015 FINANCIAL RESULTS 5SENOMYX ANNOUNCES SECOND QUARTER 2015 FINANCIAL RESULTS 6SENOMYX ANNOUNCES SECOND QUARTER 2015 FINANCIAL RESULTS 7SENOMYX ANNOUNCES SECOND QUARTER 2015 FINANCIAL RESULTS 8SENOMYX ANNOUNCES SECOND QUARTER 2015 FINANCIAL RESULTS 9Ascendis Pharma A/S Announces Positive Top-line Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 2Ascendis Pharma A/S Announces Positive Top-line Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 3Ascendis Pharma A/S Announces Positive Top-line Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 4Ascendis Pharma A/S Announces Positive Top-line Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 5Ascendis Pharma A/S Announces Positive Top-line Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 6Ascendis Pharma A/S Announces Positive Top-line Results from a Phase 2 Pediatric Study of Once-Weekly TransCon Growth Hormone for the Treatment of Growth Hormone Deficiency 7Discovery Labs Receives $1.0 million under an SBIR Grant in Continuing Support of the Development of Aerosolized KL4 Surfactant to Address Radiation-Induced Lung Injury 2Discovery Labs Receives $1.0 million under an SBIR Grant in Continuing Support of the Development of Aerosolized KL4 Surfactant to Address Radiation-Induced Lung Injury 3
Cached News: