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Updated: May 8, 2026
08:23
De novo Identification of Actively Translated Open Reading Frames with Ribosome Profiling Data
Published on: February 18, 2022
[Experimental analysis of human specific protein coding open reading frame c11orf72]
Bioorganicheskaia Khimiia
|August 23, 2013
Summary
The human gene c11orf72, though predicted, shows no expression in human tissues and is absent in primates. This suggests it may be a recently evolved gene with no current functional significance.
Area of Science:
- Genomics
- Human Evolution
- Gene Expression Analysis
Context:
- The human gene c11orf72 (FLJ90834) was previously predicted via transcriptome analysis.
- Its evolutionary origin and functional significance remain largely uncharacterized.
Purpose:
- To investigate the evolutionary specificity, expression patterns, and functional activity of the human gene c11orf72.
- To determine if c11orf72 represents a newly evolved protein-coding gene in humans.
Summary:
- The c11orf72 protein-coding sequence is specific to the human genome and absent in other primates.
- Systematic analysis revealed no transcriptional activity of c11orf72 in various normal and cancerous human tissues.
- The gene's promoter region exhibits high methylation, unlike the adjacent housekeeping gene NDUFV1.
- Expressed c11orf72 protein showed no cytotoxic or promitotic effects and diffused within cells.
Impact:
- Provides evidence for the gain of new protein-coding genes during human evolution through point mutations.
- Suggests that c11orf72, despite its human-specific presence, currently lacks demonstrable functional significance.
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