New findings from University of Paris in the area of genetics & genomics described
2007 OCT 9 -- A report, 'The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse,' is newly published data in Human Molecular Genetics. "The Slc26 family is a conserved family of anion transporters. In the human, their physiological relevance was highlighted with the discovery of pathogenic mutations in several Slc26 transporters that lead to distinctive clinical disorders (Pendred syndrome, deafness, diastrophic dysplasia, congenital chloride diarrhoea) that are related to the specific distribution of these genes," investigators in Paris, France report. "We previously identified TAT1 as a new family member (Slc26A8), very specifically expressed in male germ cells in both the human and the mouse. To investigate Tat1 function in the male germline, we generated mice with a targeted disruption of the Tat1 gene. Heterozygous and homozygous Tat1 mutant mice were indistinguishable from wild-type littermates concerning survival rate, general appearance and gross behaviour; however, Tat1 null males were sterile due to complete lack of sperm motility and reduced sperm fertilization potential. Ultra-structural analysis revealed defects in flagellar differentiation leading to an abnormal annulus, disorganization of the midpiece-principal piece junction, hairpin bending of the sperm tail with disruption of the axial structures, and abnormal mitochondrial sheath assembly. While ATP levels were normal, ATP consumption was strongly reduced in Tat1 null spermatozoa. Interestingly, Tat1 is located at the annulus, a septin-based circular structure connecting the midpiece to the principal piece," wrote A. Touré and colleagues, University of Paris. The researchers concluded: "Altogether, our results indicate that Tat1 is a critical component of the sperm annulus that is essential for proper sperm tail differentiation and motility.'." Touré and colleagues published their study in Human Molecular Genetics (The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse. Human Molecular Genetics, 2007;16(15):1783-93). For additional information, contact A. Touré, Universite Paris Descartes, Institut Cochin, CNRS (UMR8104), Paris, France. The publisher of the journal Human Molecular Genetics can be contacted at: Oxford University Press, Great Clarendon St., Oxford OX2 6DP, England. Keywords: France, Paris, Genetics & Genomics, Genetics. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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