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Primary function analysis of human mental retardation related gene CRBN

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Abstract

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.

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Abbreviations

ARNSMR:

Autosomal recessive non-syndromic mental retardation

BKCa :

Large-conductance Ca2+-activated K+

CRBN:

Cereblon

MR:

Mental retardation

rCRBN:

Rat cereblon

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Acknowledgements

This work was supported by the National Science Foundation of Shanghai (No.04ZR14040).

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Authors and Affiliations

  1. Laboratory of Gene Function, School of Life Sciences, East China Normal University, Shanghai, 200062, P.R. China

    Wang Xin, Ni Xiaohua, Chen Peilin, Chen Xin & Wu Qihan

  2. State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai, 200433, P.R. China

    Sun Yaqiong

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  1. Wang Xin
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  2. Ni Xiaohua
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  3. Chen Peilin
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  4. Chen Xin
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Correspondence to Wu Qihan.

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Wang Xin and Ni Xiaohua contributed equally to this article.

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Xin, W., Xiaohua, N., Peilin, C. et al. Primary function analysis of human mental retardation related gene CRBN . Mol Biol Rep 35, 251–256 (2008). https://doi.org/10.1007/s11033-007-9077-3

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