CHRFAM7A

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CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
Identifiers
Symbol(s) CHRFAM7A; CHRNA7; CHRNA7-DR1; D-10; MGC120482; MGC120483
External IDs OMIM: 609756
Orthologs
Human Mouse
Entrez 89832 n/a


Refseq NM_139320 (mRNA)
NP_647536 (protein)		 n/a (mRNA)
n/a (protein)
Pubmed search [1] n/a

CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion, also known as CHRFAM7A, is a human gene.[1]

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed.[1]

[edit] References

  1. ^ a b Entrez Gene: CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion.

[edit] Further reading

  • Gault J, Robinson M, Berger R, et al. (1998). "Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7).". Genomics 52 (2): 173-85. doi:10.1006/geno.1998.5363. PMID 9782083. 
  • Freedman R, Leonard S, Gault JM, et al. (2001). "Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7).". Am. J. Med. Genet. 105 (1): 20-2. PMID 11424985. 
  • Riley B, Williamson M, Collier D, et al. (2002). "A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14.". Genomics 79 (2): 197-209. doi:10.1006/geno.2002.6694. PMID 11829490. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Trombino S, Cesario A, Margaritora S, et al. (2004). "Alpha7-nicotinic acetylcholine receptors affect growth regulation of human mesothelioma cells: role of mitogen-activated protein kinase pathway.". Cancer Res. 64 (1): 135-45. PMID 14729617. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Bale AS, Meacham CA, Benignus VA, et al. (2005). "Volatile organic compounds inhibit human and rat neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes.". Toxicol. Appl. Pharmacol. 205 (1): 77-88. doi:10.1016/j.taap.2004.09.011. PMID 15885267. 
  • Freedman R, Leonard S, Waldo M, et al. (2006). "Characterization of allelic variants at chromosome 15q14 in schizophrenia.". Genes Brain Behav. 5 Suppl 1: 14-22. doi:10.1111/j.1601-183X.2006.00190.x. PMID 16417613. 
  • Zody MC, Garber M, Sharpe T, et al. (2006). "Analysis of the DNA sequence and duplication history of human chromosome 15.". Nature 440 (7084): 671-5. doi:10.1038/nature04601. PMID 16572171. 
  • Dempster EL, Toulopoulou T, McDonald C, et al. (2006). "Episodic memory performance predicted by the 2bp deletion in exon 6 of the "alpha 7-like" nicotinic receptor subunit gene.". The American journal of psychiatry 163 (10): 1832-4. doi:10.1176/appi.ajp.163.10.1832. PMID 17012698. 
  • Martin LF, Leonard S, Hall MH, et al. (2007). "Sensory gating and alpha-7 nicotinic receptor gene allelic variants in schizoaffective disorder, bipolar type.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (5): 611-4. doi:10.1002/ajmg.b.30470. PMID 17192894. 
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