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

Epistasis Unravelled In Bardet-Biedl Syndrome

  December, 14 2005 10:55
your information resource in human molecular genetics
Geneticists have long been interested in a phenomenon called epistasis, where two different genes interact to suppress or enhance one another's effects. But deciphering the exact sequences that interact in this way has proved a tricky task. Now scientists have succeeded in demonstrating and dissecting epistasis in Bardet-Biedl syndrome (BBS), an illness often characterized by obesity and learning deficits. The severity of the symptoms varies dramatically among patients with this genetic disorder.

In an article appearing online in Nature, Nicholas Katsanis and his colleagues offer new clues about how and why BBS affects people to different degrees. The team has found that a sequence called MGC1203 interacts with other molecules known to be mutated in BBS. The scientists screened patients with BBS and compared them to control subjects, and found that the former were much more likely to carry a mutation in MGC1203. The researchers also found that, in at least three affected families, the co-incidence of the mutation in MGC1203 with mutations in other BBS genes lead to a more severe form of the disease. But mutations in MGC1203 alone are unlikely to cause the illness. Further evidence from engineered zebrafish supported the idea that MGC1203 has an epistatic effect on other BBS mutations. The findings should help medical experts to better understand disorders that involve interactions between different genes.

Author contact:

Nicholas Katsanis (Johns Hopkins University, Baltimore, MD, USA)
E-mail: katsanis@jhmi.edu

Abstract available online.

(C) Nature press release.

Message posted by: Trevor M. D'Souza

print this article mail this article
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 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.