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

Certainty Style Key

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True Likely Speculative

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Human Uniqueness Compared to "Great Apes":

Likely Difference

MOCA Domain:

Genetics

MOCA Topic Authors:

Majesta O'Bleness

James Sikela

CHRFAM7A is a chimeric partial duplication of CHRNA7 that is expressed in human brain. CHRFAM7A acts as a dominant negative modulator of CHRNA7 function and may be critical for receptor regulation in humans. Humans have 2-3 more copies of CHRFAM7A than other primates, and copy number variants of this gene may play an important role in Alzheimer’s disease and cognitive impairment.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:

CHRFAM7A (CHRFAM7A: CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion)

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:

Araud T, Graw S, Berger R, Lee M, Neveu E, Bertrand D, Leonard S. The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function. Biochem Pharmacol. 2011 Jun 28. PMID: 21718690

Swaminathan S, Kim S, Shen L, Risacher SL, Foroud T, Pankratz N, Potkin SG, Huentelman MJ, Craig DW, Weiner MW, Saykin AJ, The Alzheimer's Disease Neuroimaging Initiative Adni. Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. Int J Alzheimers Dis. 2011;2011:729478. Epub 2011 Jun 2. PMID: 21660214

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

Armengol G, Knuutila S, Lozano JJ, Madrigal I, Caballín MR. (2010) Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR. Genomics 95(4):203-9. PMID:20153417

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

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