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Experimental analysis of human-specific protein-coding open reading frame c11orf72

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Abstract

Gene c11orf72 (also known as FLJ90834) included in the human gene reference list has been predicted previously on the basis of transcriptome analysis. We show that the predicted protein-coding open reading frame c11orf72 is specific for the human genome and absent from the DNA of other investigated primate species (chimpanzee, macaque). For the first time, we systematically analyzed the c11orf72 expression in five normal and two cancerous human tissues (testicles, heart, brain, lung, bladder, bladder cancer, and testicular cancer) and found no transcriptional activity in any of them. The promoter of c11orf72, located close to the promoter of a housekeeping gene NDUFV1, showed a high methylation level, whereas the NDUFV1 promoter was almost free from methylation. The protein product of c11orf72, incorporated into N- and C-terminal fusion constructs with a fluorescent protein TurboGFP, was analyzed via heterologous expression in human cell lines NT2/D1 (Tera2) and Hep2G. C11orf72 protein showed no cytotoxic or promitotic activity and was distributed diffusely throughout cells. Our data confirm the possibility of the appearance of new protein-coding genes in the course of human evolution due to simple accumulation of point mutations. However, we found no evidence for the functional significance of gene c11orf72.

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Authors and Affiliations

  1. Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, ul. Miklukho-Maklaya 16/10, Moscow, 117997, Russia

    K. K. Baskaev, R. V. Kholodenko, G. V. Malakhova, N. M. Gaifullin, E. A. Korzeneva, M. V. Suntsova & A. A. Buzdin

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  1. K. K. Baskaev
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  2. R. V. Kholodenko
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  3. G. V. Malakhova
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  4. N. M. Gaifullin
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  5. E. A. Korzeneva
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  6. M. V. Suntsova
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  7. A. A. Buzdin
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Correspondence to A. A. Buzdin.

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Original Russian Text © K.K. Baskaev, R.V. Kholodenko, G.V. Malakhova, N.M. Gaifullin, E.A. Korzeneva, M.V. Suntsova, A.A. Buzdin, 2013, published in Bioorganicheskaya Khimiya, 2013, Vol. 39, No. 2, pp. 151–158.

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Baskaev, K.K., Kholodenko, R.V., Malakhova, G.V. et al. Experimental analysis of human-specific protein-coding open reading frame c11orf72 . Russ J Bioorg Chem 39, 131–137 (2013). https://doi.org/10.1134/S1068162013020039

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  • DOI: https://doi.org/10.1134/S1068162013020039

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