Disease relevance of Rad23b

• Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B [1].

High impact information on Rad23b

• Because p97 is known to bind to the endoplasmic reticulum membrane protein AMFR (gp78), an E3 ligase, we propose a model in which p97, mPNGase, and mHR23B mediate interaction of the endoplasmic reticulum with the proteasome [2].
• In agreement with the results of in vitro repair studies, this indicates that mHR23A can functionally replace mHR23B in NER [1].
• Unlike XPC-deficient cells, mHR23B(-/-) mouse embryonic fibroblasts are not UV sensitive and retain the repair characteristics of wild-type cells [1].
• Unexpectedly, mHR23B(-/-) mice show impaired embryonic development and a high rate (90%) of intrauterine or neonatal death [1].
• Part of mHR23B is complexed with the XPC protein, and this heterodimer functions as the main damage detector and initiator of global genome NER [1].

Biological context of Rad23b

• From our analyses, we found impaired reproduction in heterozygous and homozygous knock out mice; in particular, reduced litter size and lengthened pbi was related to the NER mutation-mHR23B, in heterozygous couples, even if they were otherwise phenotypically normal [3].

References