CHRFAM7A (CHRNA7 (cholinergic receptor, nicotinic, alpha 7) and FAM7A (family with sequence similarity 7A) fusion)

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What is MOCA?
MOCA FAQ...
Human Uniqueness Compared to "Great Apes": 
Likely Difference
Human Universality: 
Population Universal (Some Individuals Everywhere)
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

CHRFAM7A is a chimeric protein partial made up of a partial duplication of CHRNA7 (exnos 5-10) and 4 novel exons homologous to part of human chromosome 3. CHRFAM7A is human lineage specific but polymorphic with copies varying from 0-2 within the human population. CHRFAM7A is expressed across many different tissue types but highly expressed in human leukocytes. CHRFAM7A acts as a dominant negative modulator of CHRNA7 function and may be critical for receptor regulation in humans. 

Timing

Timing of appearance of the difference in the Hominin Lineage as a defined date or a lineage separation event. The point in time associated with lineage separation events may change in the future as the scientific community agrees upon better time estimates. Lineage separation events are defined in 2017 as:

  • the Last Common Ancestor (LCA) of humans and old world monkeys was 25,000 - 30,000 thousand (25 - 30 million) years ago
  • the Last Common Ancestor (LCA) of humans and chimpanzees was 6,000 - 8,000 thousand (6 - 8 million) years ago
  • the emergence of the genus Homo was 2,000 thousand (2 million) years ago
  • the Last Common Ancestor (LCA) of humans and neanderthals was 500 thousand years ago
  • the common ancestor of modern humans was 100 - 300 thousand years ago

Probable Appearance: 
2,000 thousand years ago
Definite Appearance: 
6,000 thousand years ago
Related MOCA Topics
Related Topics (hover over title for reason):
Topic Certainty
Alzheimer's Disease Pathology (Neurofibrillary Tangles) Likely
Dementias Likely
Genetics Topic Attributes
Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
CHRFAM7A Copy Number Changes

References

  1. CHRFAM7A, a human-specific and partially duplicated α7-nicotinic acetylcholine receptor gene with the potential to specify a human-specific inflammatory response to injury., Costantini, Todd W., Dang Xitong, Coimbra Raul, Eliceiri Brian P., and Baird Andrew , J Leukoc Biol, 2015 Feb, Volume 97, Issue 2, p.247-57, (2015)
  2. The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function., Araud, Tanguy, Graw Sharon, Berger Ralph, Lee Michael, Neveu Estele, Bertrand Daniel, and Leonard Sherry , Biochem Pharmacol, 2011 Oct 15, Volume 82, Issue 8, p.904-14, (2011)
  3. Diversity of human copy number variation and multicopy genes., Sudmant, Peter H., Kitzman Jacob O., Antonacci Francesca, Alkan Can, Malig Maika, Tsalenko Anya, Sampas Nick, Bruhn Laurakay, Shendure Jay, and Eichler Evan E. , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
  4. Lineage-specific gene duplication and loss in human and great ape evolution., Fortna, A., Kim Y., MacLaren E., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., et al. , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)

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