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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Haplotypes, mutations and male fertility: The story of the testis-specific ubiquitin protease USP26
Molecular Human Reproduction, Volume 12, No. 10, Year 2006
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Description
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. © 2006 Oxford University Press.
Authors & Co-Authors
Ravel, Célia
France, Paris
Institut Pasteur, Paris
France, Paris
Sorbonne Université
El Houate, B.
France, Paris
Institut Pasteur, Paris
Morocco, Casablanca
Institut Pasteur du Maroc
Chantot, Sandra
France, Paris
Institut Pasteur, Paris
France, Paris
Sorbonne Université
Lourenço, Diana
France, Paris
Institut Pasteur, Paris
Dumaine, A.
France, Paris
Institut Pasteur, Paris
Rouba, Hassan
Morocco, Casablanca
Institut Pasteur du Maroc
Bandyopadahyay, A.
India, Kolkata
University of Calcutta
Radhakrishna, Uppala
United States, Omaha
Boys Town National Research Hospital
Das, Bhaskar
India, Dibrugarh
Dibrugarh University
Sengupta, Sarthak
India, Dibrugarh
Dibrugarh University
Mandelbaum, Jacqueline
France, Paris
Sorbonne Université
Siffroi, Jean Pierre
France, Paris
Sorbonne Université
McElreavey, Ken D.
France, Paris
Institut Pasteur, Paris
Statistics
Citations: 45
Authors: 13
Affiliations: 6
Identifiers
Doi:
10.1093/molehr/gal063
ISSN:
13609947
e-ISSN:
14602407
Research Areas
Genetics And Genomics
Sexual And Reproductive Health
Participants Gender
Male