Article
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26.
Molecular human reproduction - 1 Oct 2006
Ravel C, El Houate B, Chantot S, Lourenço D, Dumaine A, Rouba H, Bandyopadahyay A, Radhakrishna U, Das B, Sengupta S, Mandelbaum J, Siffroi J P, McElreavey K
Abstract excerpt
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...
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