home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
 
  HUM-MOLGEN -> Genetic News | search  
 

Gene Mutation Affecting Human Brain Size

 
  January, 9 2008 22:59
your information resource in human molecular genetics
 
     

Scientists have identified mutations in a gene that cause reduced brain and body size, reports a paper to be published online in Nature Genetics.

Andrew Jackson and colleagues studied individuals with Seckel syndrome, which is characterized by growth retardation in the womb, severe proportionate short stature, and markedly reduced brain size or microcephaly. They had previously shown that some affected individuals have mutations in a gene called ATR, but these mutations did not account for everyone with the syndrome.

The authors found mutations in a gene called PCNT, encoding a protein called pericentrin, in two families with Seckel syndrome. Pericentrin is a component of the centrosome, which organizes the cellular apparatus that ensures proper segregation of chromosomes during cell division. Other genes involved in centrosomal function have previously been found to be mutated in different forms of microcephaly, suggesting that it is essential for determining human brain size.

Author contact:

Andrew Jackson (Human Genetics Unit, Western General Hospital, Edinburgh, UK)
E-mail: andrew.jackson@hgu.mrc.ac.uk

Abstract available online.

(C) Nature Genetics press release.


Message posted by: Trevor M. D'Souza

print this article mail this article
Bookmark and Share this page (what is this?)

Social bookmarking allows users to save and categorise a personal collection of bookmarks and share them with others. This is different to using your own browser bookmarks which are available using the menus within your web browser.

Use the links below to share this article on the social bookmarking site of your choice.

Read more about social bookmarking at Wikipedia - Social Bookmarking

Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2017 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.