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:5/16/2017)... --  Bridge Patient Portal , an enterprise patient ... Systems , an electronic medical record solutions developer ... a partnership to build an interface between the ... products, including Centricity Practice Solution (CPS), Centricity Business ... integrations will allow healthcare delivery networks using GE ...
(Date:4/17/2017)... NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" ... its 2016 Annual Report on Form 10-K on Thursday April 13, ... ... the Investor Relations section of the Company,s website at http://www.nxt-id.com ... http://www.sec.gov . 2016 Year Highlights: ...
(Date:4/11/2017)... No two people are believed to ... York University Tandon School of Engineering and Michigan ... partial similarities between prints are common enough that ... and other electronic devices can be more vulnerable ... in the fact that fingerprint-based authentication systems feature ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... ... Market with the addition of its newest module, US Hemostats & Sealants. , ... thrombin hemostats, absorbable hemostats, fibrin sealants, synthetic sealants and biologic sealants used in ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... Rosalind™, the first-ever genomics analysis platform specifically designed for life science researchers ... honor of pioneering researcher Rosalind Franklin, who made a major contribution to ...
(Date:10/11/2017)... ... October 11, 2017 , ... The CRISPR-Cas9 ... overexpression experiments and avoiding the use of exogenous expression plasmids. The simplicity of ... performing systematic gain-of-function studies. , This complement to loss-of-function studies, such as ...
(Date:10/11/2017)... (PRWEB) , ... October 11, 2017 , ... ComplianceOnline’s Medical ... place on 7th and 8th June 2018 in San Francisco, CA. The Summit brings ... well as several distinguished CEOs, board directors and government officials from around the world ...
Breaking Biology Technology:
Cached News: