[Animal models: Candidate genes for human male infertility].
More than 300 genes necessary for the normal completion of the spermatogenesis have been identified by means of the production of knockout mice. The data cover the whole male reproduction apparatus and thus allow defining candidate genes that could be related to various dysfunctions of human male fertility. Data obtained from mouse models have allowed identifying genetic mutations with loss of function for men with: (i) early meiotic arrest, (ii) maturation arrest of the round spermatid and (iii) morphological anomalies of the spermatozoa. Also numerous Drosophila mutants are models for the knowledge of genes involved in the spermatogenesis. Finally, there are other important models sharing cilia and flagella, and thus, having a structure in common with the sperm flagellum, the axoneme. First, these organisms have allowed the identification of genes involved in human respiratory diseases. But interestingly, these last two years, a great number of human syndromes have been discovered to be related to cilia pathologies, and among them, complex phenotypes including an abnormal spermatogenesis.
Escalier
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Laboratoire d'andrologie, CHU de Kremlin-Bicêtre, 78, avenue du Général-Leclerc, 94275 Le Kremlin-Bicêtre cedex, France. denise.escalier@noos.fr
D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008540:Meiosis / Q000235:genetics; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D010641:Phenotype; D013082:Sperm Tail; D013091:Spermatogenesis / Q000235:genetics; D013094:Spermatozoa / Q000002:abnormalities