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C20orf203 (chromosome 20 open reading frame 203)

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True   Likely   Speculative
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Human Uniqueness Compared to "Great Apes": 
Absolute Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

C20orf203 is a de novo human gene that evolved from non-coding DNA after the split between human and chimp. In the human lineage 5 point mutations in the region resulted in the creation of an open reading frame which lead to the expression and translation of 194 amino acid (22kDa) protein. This protein is enriched in the brain and is up regulated in the brains of Alzheimer’s patients and thus has been hypothesized to play a role in the pathogenesis of this disease.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
C20orf203 (C20orf203: chromosome 20 open reading frame 203)
Type of Human-Specific Changes:
De Novo Human Gene
Related MOCA Topics
Related Topics:
TitleCertainty
Alzheimer's Pathology (Neurofibrillary Tangles)Speculative
Timing

Timing of Appearance of the Difference in the Hominin Lineage.

For this entry assume that

  • the common ancestor of humans and old world monkeys was 25000 thousand (25 million) years ago
  • the common ancestor of humans and chimpanzees was 6000 thousand (6 million) years ago
  • the emergence of the genus Homo was 2000 thousand (2 million) years ago
  • the common ancestor of modern humans was 100 thousand years ago

 

Definite Appearance: 
6000 Thousand Years
References: 

Li CY, Zhang Y, Wang Z, Zhang Y, Cao C, Zhang PW, Lu SJ, Li XM, Yu Q, Zheng X, Du Q, Uhl GR, Liu QR, Wei L. (2011) A Human-Specific De Novo Protein-Coding Gene Associated with Human Brain Functions. PLoS Comp Biol 6(3): e1000734. PMID: 20376170

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