Mol. Hum. Reprod. Advance Access originally published online on August 3, 2006
Molecular Human Reproduction 2006 12(10):643-646; doi:10.1093/molehr/gal063
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26
1Reproduction, Fertility and Populations, Institut Pasteur, 2EA1533, Université Pierre et Marie Curie-Paris 6, AP-HP, Hôpital Tenon, Laboratoire d’Histologie-Biologie de la Reproduction-Cytogénétique, Paris, France, 3Department of Human Genetics, Institut Pasteur of Morocco, Casablanca, Morocco, 4Department of Anthropology, University of Calcutta, Kolkata, West Bengal, India, 5Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA and 6Department of Anthropology, University of Dibrugarh, Dibrugarh, Assam, India
7 To whom correspondence should be addressed at: Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, Paris, 75724 France. E-mail: kenmce{at}pasteur.fr
* Both authors contributed equally to this work.
Recently, mutations in the X-linked ubiquitin protease 26 (USP26) gene have been proposed to be associated with male infertility. In particular a 371insACA, 494T>C and 1423C>T haplotype, which results in a T123–124ins, L165S and H475Y amino acid change respectively, has been reported to be associated with Sertoli cell-only syndrome (SCOS) and an absence of sperm in the ejaculate. Here, we demonstrate that two of these changes actually correspond to the ancestral sequence of the gene and that the USP26 haplotype is present in significant frequencies in sub-Saharan African and South and East Asian populations, including in individuals with known fertility. This indicates that the allele is not associated with infertility. The pattern of frequency distribution of the derived haplotype (371delACA, 494T), which is present at high frequencies in most non-African populations could be interpreted as either a result of migration followed by simple genetic drift or alternatively as positive selection acting on the derived alleles. The latter hypothesis seems likely, because there is evidence of strong positive selection acting on the USP26 gene.
Key words: fertility/polymorphism/spermatogenesis/USP26 haplotype/X chromosome
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  K. Stouffs, H. Tournaye, I. Liebaers, and W. Lissens Male infertility and the involvement of the X chromosome Hum. Reprod. Update, November 1, 2009; 15(6): 623 - 637. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Ribarski, O. Lehavi, L. Yogev, R. Hauser, B. Bar-Shira Maymon, A. Botchan, G. Paz, H. Yavetz, and S.E. Kleiman USP26 gene variations in fertile and infertile men Hum. Reprod., February 1, 2009; 24(2): 477 - 484. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E Kichine, S Msaidie, A D Bokilo, A Ducourneau, A Navarro, N Levy, P Terriou, P Collignon, G Boetsch, J Chiaroni, et al. Low-frequency protamine 1 gene transversions c.102G->T and c.-107G->C do not correlate with male infertility. J. Med. Genet., April 1, 2008; 45(4): 255 - 256. [Full Text] [PDF]
|
|