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:4/3/2017)... 2017  Data captured by IsoCode, IsoPlexis ... a statistically significant association between the potency ... and objective response of cancer patients post-treatment. ... whether cancer patients will respond to CAR-T ... as to improve both pre-infusion potency testing and ...
(Date:3/29/2017)... -- higi, the health IT company that operates the largest ... , today announced a Series B investment from BlueCross ... new investment and acquisition accelerates higi,s strategy to create ... health activities through the collection and workflow integration of ... and secures data today on behalf of over 36 ...
(Date:3/24/2017)... Research and Markets has announced the addition ... Trends - Industry Forecast to 2025" report to their offering. ... The Global Biometric ... of around 15.1% over the next decade to reach approximately $1,580 ... market estimates and forecasts for all the given segments on global ...
Breaking Biology News(10 mins):
(Date:6/22/2017)... ... 2017 , ... Charm Sciences, Inc. is pleased to announce that its Charm ... appropriate as a screening test at dairies and farms for raw commingled cow milk. ... Charm EZ Lite system. These systems are a combination incubator and reader in one. ...
(Date:6/20/2017)... ... June 20, 2017 , ... ... PhD, a well-versed leader with extensive assay development and biomarker expertise, as VP ... is a Boston CRO specializing in bio-analytical assay development and sample testing services. ...
(Date:6/19/2017)... ... 2017 , ... Tunnell Consulting has been solving the most complex ... challenges faced by life sciences, biotech and pharmaceuticals companies today is in interpreting the ... , who is well known in the industry and brings significant high-level expertise to ...
(Date:6/15/2017)... ... June 15, 2017 , ... ... give farmers new options for managing Palmer amaranth and other broadleaf weeds resistant ... special precautions are necessary. Auxin herbicides are known to drift and to cause ...
Breaking Biology Technology:
Cached News: