Primary function analysis of human mental retardation related gene CRBN
- 622 Downloads
The mutation of human cereblon gene (CRBN) is revealed to be related with mild mental retardation. Since the molecular characteristics of CRBN have not been well presented, we investigated the general properties of CRBN. We analyzed its gene structure and protein homologues. The CRBN protein might belong to a family of adenosine triphosphate (ATP)-dependent Lon protease. We also found that CRBN was widely expressed in different tissues, and the expression level in testis is significantly higher than other tissues. This may suggested it could play some important roles in several other tissues besides brain. Transient transfection experiment in AD 293 cell lines suggested that both CRBN and CRBN mutant (nucleotide position 1,274(C > T)) are located in the whole cells. This may suggest new functions of CRBN in cell nucleolus besides its mitochondria protease activity in cytoplasm.
KeywordsCereblon Expression pattern Mental retardation Subcellular localization
Autosomal recessive non-syndromic mental retardation
Large-conductance Ca2+-activated K+
This work was supported by the National Science Foundation of Shanghai (No.04ZR14040).
- 2.Wright SW, Tarjan G, Eyer L (1959) Investigation of families with two or more mentally defective siblings; clinical observations. Am J Dis Child 97: 445–463Google Scholar
- 13.Joseph JH, Joanna P, Roni QL et al (2004) A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology 63:1921–1931Google Scholar
- 17.Sooyeon J, Kwang-Hee L, Sungmin S et al (2005) Identification and functional characterization of cereblon as a binding protein for large-conductance calcium-activated potassium channel in rat brain. J Neuro chem 94:1212–1224Google Scholar