Experimental Analysis of Human-Specific Protein-Coding
Open Reading Frame c11orf 72
K. K. Baskaev, R. V. Kholodenko, G. V. Malakhova, N. M. Gaifullin,
E. A. Korzeneva, M.V. Suntsova, and A. A. Buzdin1
ShemyakinOvchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences,
ul. Miklukho-Maklaya 16/10, Moscow, 117997 Russia
Received August 22, 2012; in final form, August 27, 2012
AbstractGene c11orf72 (also known as FLJ90834) included in the human gene reference list has been pre-
dicted previously on the basis of transcriptome analysis. We show that the predicted protein-coding open read-
ing 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 pro-
moter 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 con-
structs 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.
Keywords: gene prediction, genetic instability, transportable elements, human specific genes
DOI: 10.1134/S1068162013020039
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