[Experimental analysis of human specific protein coding open reading frame c11orf72]

Bioorg Khim. 2013 Mar-Apr;39(2):151-8. doi: 10.1134/s1068162013020039.
[Article in Russian]


Gene c11orf72 (also known as FLJ90834) included in human gene reference list was previously predicted on the basis oftranscriptome analysis. We show that c11orf72 predicted protein coding open reading frame is specific for human genome and that it is absent from DNAs of other investigated primate species (chimpanzee, macaque). For the first time, we systematically analyzed c11orf72 expression in five normal and two cancerous human tissues (testicles, heart, brain, lung, bladder, bladder tumor and testicular tumor) and found no transcriptional activity there. Promoter of c11orf72, located close to promoter of a housekeeping gene NDUFV1, has shown high methylation level, whereas NDUFV1 promoter was almost free from methylation. The protein product for cllorf72 was analyzed using heterologous expression in human cell lines NT2/D1 (Tera2) and HepG2, in N- and C-terminal fusion constructs with the fluorescent protein TurboGFP. C11orf72 protein showed no cytotoxic or promitotic activity and was distributed diffusely through the cell. Our data confirm the possibility of gain of new protein-coding genes during human evolution due to simple accumulation of point mutations. However, we found no evidence for the functional significance of gene c11orf72.

Publication types

  • English Abstract

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cell Line, Tumor
  • Gene Expression
  • Genome, Human
  • Humans
  • Macaca / genetics
  • Methylation
  • Molecular Sequence Data
  • Open Reading Frames / genetics*
  • Pan troglodytes / genetics
  • Promoter Regions, Genetic
  • Species Specificity*
  • Tissue Distribution