Abstract
The azoospermia factor (AZF) regions consist of three genetic domains in the long arm of the human Y chromosome referred to as AZFa, AZFb and AZFc. These are of importance for male fertility since they are home to genes required for spermatogenesis. In this paper a comprehensive analysis of AZF structure and gene content will be undertaken. Particular care will be given to the molecular mechanisms underlying the spermatogenic impairment phenotypes associated to AZF deletions. Analysis of the 14 different AZF genes or gene families argues for the existence of functional asymmetries between the determinants; while some are prominent players in spermatogenesis, others seem to modulate more subtly the program. In this regard, evidence supporting the notion that DDX3Y, KDM5D, RBMY1A1, DAZ, and CDY represent key AZF spermatogenic determinants will be discussed.
Highlights
The notion that functional determinants of spermatogenesis map to the Y chromosome (Y) was established in the 1970s [1]
These are of importance for male fertility since they are home to genes required for spermatogenesis
Evidence supporting the notion that DDX3Y, KDM5D, RBMY1A1, DAZ, and chromodomain protein family (CDY) represent key azoospermia factor (AZF) spermatogenic determinants will be discussed
Summary
The notion that functional determinants of spermatogenesis map to the Y chromosome (Y) was established in the 1970s [1]. Ever since the pioneering observation that deletions in the long arm of the Y chromosome (Yq) could be associated to defects in sperm production, researchers have tried to precisely map and identify such factors. In the course of this paper, a thorough genetic and functional analysis of the Y regions involved in spermatogenesis will be undertaken. These are designated as azoospermia factor (AZF) regions and they represent an area of significant interest in the field of human reproduction. In order to give added insight to this topic, the present manuscript will start with a brief overview of the major developments in the mapping of the AZF domains
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