French medical scientists have identified a mutation in a gene called AURKC (Aurora Kinase C) in 14 infertile men of North African descent.
Pierre Ray and colleagues at University Hospital in Grenoble said while deletions of some portion of the Y chromosome have been found in infertile men, their discovery is a rare example in which a mutation in a single gene causes male infertility.
The researchers 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.
A genome-wide scan identified a mutation in AURKC that severely truncates the protein. AURKC encodes an enzyme that phosphorylates other proteins and the researchers found the mutation abolishes that activity.
An analysis of the genomic region around AURKC showed the individuals have other markers in common, suggesting the mutation appeared in a North African common ancestor approximately 1,500 years ago.
The authors note a larger study of the prevalence of the mutation in North Africans is now warranted.
The research is presented in journal Nature Genetics.
Via Web India