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:


(Date:3/22/2017)... Lithuania , March 21, 2017   ... and object recognition technologies, today announced the release ... kit (SDK), which provides improved facial recognition using ... cameras on a single computer. The new version ... to improve accuracy, and it utilizes a Graphing ...
(Date:3/20/2017)... , March 20, 2017 At this year,s ... -based biometrics manufacturer DERMALOG. The Chancellor came to the DERMALOG stand ... is this year,s CeBIT partner country. At the largest German biometrics ... in use: fingerprint, face and iris recognition as well as DERMALOG´s multi-biometrics ... ...
(Date:3/13/2017)... Germany , March 13, 2017 Future of security: ... ... DERMALOGs Face Matching enables to match face ... forms the basis to identify individuals. (PRNewsFoto/Dermalog Identification Systems) ... DERMALOG,s "Face Matching" is the fastest software for biometric ...
Breaking Biology News(10 mins):
(Date:4/25/2017)... ... April 25, 2017 , ... Franz ... Lisp (CL) development tools, and market leader for Semantic Graph Database ... now available within the most effective system for developing and deploying applications to ...
(Date:4/25/2017)... PROVIDENCE, R.I. , April 25, 2017 /PRNewswire/ ... EpiVax, Inc. ("EpiVax") has licensed its novel immune-modulating technology ... in autoimmune disease and allergy. Tregitopes, ... discovered in human immunoglobulin by EpiVax CEO ... Martin. Similar to intravenous immunoglobulin G, an autoimmune ...
(Date:4/25/2017)... ... April 25, 2017 , ... ... Partners.     , Covalent’s Analytical Services unit provides high-quality data to clients, ... within 24 hours of receipt. There are no price premiums, and customers are ...
(Date:4/24/2017)... ... April 24, 2017 , ... It is well established that ... the broad application of this cellular target engagement concept to drug discovery has ... thermal stabilization assays are valuable methods for particular applications, but they can require ...
Breaking Biology Technology:
Cached News: