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GTF2H2 (General transcription factor IIH, polypeptide 2, 44kDa)

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What is MOCA?
MOCA FAQ...
Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

General transcription factor IIH, polypeptide 2 (GT2H2) is involved in basal transcription and nucleotide excision repair. GT2H2 copies are found within a 500kb 15q13 inverted duplication region that is highly prone to rearrangements and deletions. Humans have on average 1-5 more copies of the gene than other primates, although the implications for these copies are not understood.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
GTF2H2 (GTF2H2: general transcription factor IIH, polypeptide 2, 44kDa)
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
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

 

Probable Appearance: 
2000 Thousand Years
Definite Appearance: 
6000 Thousand Years
References: 

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE. Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. PMID:21030649

 

Arkblad E, Tulinius M, Kroksmark AK, Henricsson M, Darin N. (2009) A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr. 98(5):865-72. PMID: 19154529



Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. (2004) Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol 2(7):E207. PMID: 15252450

 

Lee TI, Young RA (2000). Transcription of eukaryotic protein-coding genes. Annu. Rev. Genet. 34: 77–137. PMID 11092823

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