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

Mutation Leads To Male Infertility

 
  April, 19 2007 8:22
your information resource in human molecular genetics
 
     
A mutation in a gene called AURKC (Aurora Kinase C) has been identified in 14 infertile men of North African descent, reports a paper online this week in Nature Genetics. While deletions of some portion of the Y chromosome have been found in infertile men, this is a rare example in which a mutation in a single gene causes male infertility.

Estimates suggest that at least 80 million individuals worldwide are infertile. Pierre Ray and colleagues studied 14 men whose infertility seemed to have a similar origin. Their sperm were characterized by large heads, increased DNA content, and a variable number of flagella-- the whip-like tails that propel the sperm. A genome-wide scan identified a mutation in AURKC that severely truncates the protein. AURKC encodes an enzyme that phosphorylates other proteins, and the authors show that the mutation abolishes this activity. An analysis of the genomic region around AURKC shows that these individuals have other markers in common, suggesting that this mutation appeared in a North African common ancestor approximately 1,500 years ago. The authors note that a larger study of the prevalence of this mutation in North Africans is now warranted.

Author contact:

Pierre Ray (University Hospital of Grenoble, France)
E-mail: pray@chu-grenoble.fr

Abstract available online.

(C) Nature Genetics 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.