Understanding the genes involved in spermatogenesis: a progress report.
OBJECTIVE
To review the current literature on genes known to affect fertility in the human and mouse.


METHODS
A literature review was performed and key articles were chosen for focus in the areas of genes with effects only on spermatogenesis and oogenesis, with an emphasis on Y-chromosome-encoded gene families and spermatogenesis. In addition, studies describing genes deleted in transgenic mice were incorporated.


RESULTS
Several gene families on the Y chromosome are implicated in spermatogenic failure, but the link between the genetic lesion and the resulting defect is unclear. Many mouse genes involved in repair and DNA damage monitoring have specific effects on gametogenesis in and around meiosis.


CONCLUSIONS
Many genes are involved only in gametogenesis, and some of these are beginning to be understood in terms of their functions. An even larger number of genes is required for gametogenesis, and other functions and mouse models give insights important for human disease.
Cooke
H J
HJ
Medical Research Council, Human Genetics Unit, Western General Hospital, Edinburgh, Scotland. HOWARD.COOKE@HGU.MRC.AC.UK
Hargreave
T
T
Elliott
D J
DJ
D000818:Animals; D005075:Biological Evolution; D000075364:Deleted in Azoospermia 1 Protein; D005796:Genes / Q000502:physiology*; D006801:Humans; D008297:Male; D005810:Multigene Family; D009687:Nuclear Proteins; D009845:Oligospermia / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D013091:Spermatogenesis / Q000502:physiology*; D014998:Y Chromosome / Q000502:physiology
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins; C501500:Rbmy protein, mouse