Molecular mechanisms in male determination and germ cell differentiation.
Sex determination and gametogenesis are key processes in human reproduction, and any defect can lead to infertility. We describe here the molecular mechanisms of male sex determination and testis formation; defects in sex determination lead to a female phenotype despite the presence of a Y chromosome, more rarely to a male phenotype with XX chromosomes, or to intersex phenotypes. Interestingly, these phenotypes are often associated with other developmental malformations. In testis, spermatozoa are produced from renewable stem cells in a complex differentiation process called spermatogenesis. Gene expression during spermatogenesis differs to a surprising degree from gene expression in somatic cells, and we discuss here mechanistic differences and their effect on the differentiation process and male fertility.
San Raffaele Scientific Institute and San Raffaele University, via Olgettina 58, 20132, Milan, Italy.
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Ronfani
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Bianchi
D000818:Animals; D002454:Cell Differentiation / Q000502:physiology; D004268:DNA-Binding Proteins / Q000502:physiology*; D051525:Fibroblast Growth Factor 9; D005346:Fibroblast Growth Factors / Q000502:physiology; D005786:Gene Expression Regulation / Q000502:physiology; D006609:High Mobility Group Proteins / Q000502:physiology; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000502:physiology*; D055758:SOX9 Transcription Factor; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D013091:Spermatogenesis / Q000502:physiology*; D013094:Spermatozoa / Q000502:physiology*; D014157:Transcription Factors / Q000502:physiology*
D004268:DNA-Binding Proteins; C496459:FGF9 protein, human; D051525:Fibroblast Growth Factor 9; D006609:High Mobility Group Proteins; D009687:Nuclear Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D005346:Fibroblast Growth Factors