Abstract

This chapter discusses the human Y chromosome function in male germ cell development. The germ cell function of the human Y chromosome located in Yq 11 now designated as AZFa , AZFb , and AZFc are reviewed in the chapter. The chapter summarizes the present state of research and the ideas of possible AZF functional sites in the germ line. Besides the expression of protein coding AZF genes, the intactness of the Y chromosome structure in Yq 11 may also be important during human male germ cell development. The potential switch signals along the human germ cell differentiation pathway, in which the expression of AZF genes may be involved, are also discussed. Disruption of the differentiation pathway of a somatic cell line in testis development by a Y gene defect may cause a disruption of spermatogenesis as a secondary effect as well. They recognize a terminal deletion of the long Y arm by analyzing the lack of the heterochromatic chromosome block (Yq 12) in six azoospermic males.

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