Mol. Hum. Reprod. Advance Access published online on August 3, 2006
Molecular Human Reproduction, doi:10.1093/molehr/gal063
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1 Reproduction, Fertility and Populations, Institut Pasteur; EA1533, Université Pierre et Marie Curie-Paris 6, AP-HP, Hôpital Tenon, Laboratoire d’Histologie-Biologie de la Reproduction-Cytogénétique, Paris, France
* To whom correspondence should be addressed. 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. * Both authors contributed equally to this work.
Received May 4, 2006
Revised June 23, 2006
Accepted June 26, 2006
Article
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26
C. Ravel 1 *, B. El Houate 2 *, S. Chantot 1, D. Lourenço 3, A. Dumaine 3, H. Rouba 4, A. Bandyopadahyay 5, U. Radhakrishna 6, B. Das 7, S. Sengupta 7, J. Mandelbaum 8, J.P. Siffroi 8, and K. McElreavey 9 *
2 Reproduction, Fertility and Populations, Institut Pasteur; Department of Human Genetics, Institut Pasteur of Morocco, Casablanca, Morocco
3 Reproduction, Fertility and Populations, Institut Pasteur
4 Department of Human Genetics, Institut Pasteur of Morocco, Casablanca, Morocco
5 Department of Anthropology, University of Calcutta, Kolkata, West Bengal, India
6 Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA
7 Department of Anthropology, University of Dibrugarh, Dibrugarh, Assam, India
8 EA1533, Université Pierre et Marie Curie-Paris 6, AP-HP, Hôpital Tenon, Laboratoire d’Histologie-Biologie de la Reproduction-Cytogénétique, Paris, France
9 Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, Paris, 75724 France
K. McElreavey, E-mail: kenmce{at}pasteur.fr
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