• PMID: 8797826
• Gene Name: UBE2B
• Condition: Associated with male sterility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Associated with male sterility

Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification

Roest HP, van Klaveren J, de Wit J, van Gurp CG, Koken MH, Vermey M, van Roijen JH, Hoogerbrugge JW, Vreeburg JT, Baarends WM, Bootsma D, Grootegoed JA, Hoeijmakers JH.

The ubiquitin-conjugating yeast enzyme RAD6 and its human homologs hHR6A and hHR6B are implicated in postreplication repair and damage-induced mutagenesis. The yeast protein is also required for sporulation and may modulate chromatin structure via histone ubiquitination. We report the phenotype of the first animal mutant in the ubiquitin pathway: inactivation of the hHR6B-homologous gene in mice causes male infertility. Derailment of spermatogenesis becomes overt during the postmeiotic condensation of chromatin in spermatids. These findings provide a parallel between yeast sporulation and mammalian spermatogenesis and strongly implicate hHR6-dependent ubiquitination in chromatin remodeling. Since heterozygous male mice and even knockout female mice are completely normal and fertile and thus able to transmit the defect, similar hHR6B mutations may cause male infertility in man. FAU - Roest, H P AU - Roest HP AD - MGC-Department of Cell Biology and Genetics, Faculty of Medicine and Health Sciences Erasmus University Rotterdam, The Netherlands. FAU - van Klaveren, J AU - van Klaveren J FAU - de Wit, J AU - de Wit J FAU - van Gurp, C G AU - van Gurp CG FAU - Koken, M H AU - Koken MH FAU - Vermey, M AU - Vermey M FAU - van Roijen, J H AU - van Roijen JH FAU - Hoogerbrugge, J W AU - Hoogerbrugge JW FAU - Vreeburg, J T AU - Vreeburg JT FAU - Baarends, W M AU - Baarends WM FAU - Bootsma, D AU - Bootsma D FAU - Grootegoed, J A AU - Grootegoed JA