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The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function

Sinkus, Melissa L. and Graw, Sharon and Freedman, Robert and Ross, Randal G. and Lester, Henry A. and Leonard, Sherry (2015) The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function. Neuropharmacology, 96 . pp. 274-288. ISSN 0028-3908. PMCID PMC4486515. doi:10.1016/j.neuropharm.2015.02.006.

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The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is ubiquitously expressed in both the central nervous system and in the periphery. CHRNA7 is genetically linked to multiple disorders with cognitive deficits, including schizophrenia, bipolar disorder, ADHD, epilepsy, Alzheimer's disease, and Rett syndrome. The regulation of CHRNA7 is complex; more than a dozen mechanisms are known, one of which is a partial duplication of the parent gene. Exons 5–10 of CHRNA7 on chromosome 15 were duplicated and inserted 1.6 Mb upstream of CHRNA7, interrupting an earlier partial duplication of two other genes. The chimeric CHRFAM7A gene product, dupα7, assembles with α7 subunits, resulting in a dominant negative regulation of function. The duplication is human specific, occurring neither in primates nor in rodents. The duplicated α7 sequence in exons 5–10 of CHRFAM7A is almost identical to CHRNA7, and thus is not completely queried in high throughput genetic studies (GWAS). Further, pre-clinical animal models of the α7nAChR utilized in drug development research do not have CHRFAM7A (dupα7) and cannot fully model human drug responses. The wide expression of CHRNA7, its multiple functions and modes of regulation present challenges for study of this gene in disease.

Item Type:Article
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URLURL TypeDescription CentralArticle
Lester, Henry A.0000-0002-5470-5255
Additional Information:© 2015 Published by Elsevier Ltd. Available online 19 February 2015. Special thanks to Ralph Berger, Judith Logel, Margaret Short, and William Proctor, Ph.D. for technical assistance. The research was funded by NIH grants DA09457, MH81177, and the Veterans Affairs Medical Research Service to SL.
Funding AgencyGrant Number
Veterans Affairs Medical Research ServiceUNSPECIFIED
Subject Keywords:Nicotinic receptor; Duplication; Schizophrenia; Alzheimer's; CHRNA7; CHRFAM7A; Gene mutation
PubMed Central ID:PMC4486515
Record Number:CaltechAUTHORS:20150224-151714505
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Official Citation:Melissa L. Sinkus, Sharon Graw, Robert Freedman, Randal G. Ross, Henry A. Lester, Sherry Leonard, The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function, Neuropharmacology, Volume 96, Part B, September 2015, Pages 274-288, ISSN 0028-3908, (
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:55159
Deposited By: Tony Diaz
Deposited On:24 Feb 2015 23:39
Last Modified:10 Nov 2021 20:42

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