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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

CHRNA3  -  cholinergic receptor, nicotinic, alpha 3...

Homo sapiens

Synonyms: LNCR2, NACHRA3, Neuronal acetylcholine receptor subunit alpha-3, PAOD2
 
 
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High impact information on CHRNA3

  • One of the families showed evidence of linkage to 15q24, close to the CHRNA3/CHRNA5/CHRNB4 cluster (maximum LOD score of 3.01 with D15S152) [1].
  • Here we provide the information on the genomic structures of both the CHRNB2 and the CHRNA3 genes that is necessary for comprehensive mutational analyses, and we refine the genomic assignment of CHRNB2 on chromosome 1 [2].
  • The gene encoding another abundant AChR subunit, the alpha3-subunit gene (CHRNA3), is present with those encoding two other subunits, CHRNB4 and CHRNA5, in a gene cluster whose functional role is still unclear [2].
  • The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3) [2].
  • Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE [3].
 

Biological context of CHRNA3

  • CHRNA3 and CHRNA5, coding for alpha3 and alpha5 subunits of the neuronal nicotinic acetylcholine receptor, have been reported to overlap at their 3'ends in human and bovine genomes [4].
  • Moreover, two hitherto unknown introns were identified within the 3' untranslated region of CHRNA3, causing a partial tail-to-tail overlap with CHRNA5 [5].
 

Anatomical context of CHRNA3

  • To identify the possible mutations and/or polymorphisms of neuronal nicotinic acetylcholine receptor (nAChR) genes related to the pathogenesis of sporadic AD, we have performed mutational analyses of the major neuronal nAChR genes (CHRNA3, 4, 7 and CHRNB2) expressed in central nervous system [6].
 

Other interactions of CHRNA3

  • Allelic analysis showed association of specific silent or intronic polymorphisms of the CHRNA3 and CHRNA4 genes and AD [6].
  • Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4 [7].

References

  1. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Phillips, H.A., Scheffer, I.E., Crossland, K.M., Bhatia, K.P., Fish, D.R., Marsden, C.D., Howell, S.J., Stephenson, J.B., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S.F., Mulley, J.C. Am. J. Hum. Genet. (1998) [Pubmed]
  2. The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3). Rempel, N., Heyers, S., Engels, H., Sleegers, E., Steinlein, O.K. Hum. Genet. (1998) [Pubmed]
  3. Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE. Bonati, M.T., Asselta, R., Duga, S., Ferini-Strambi, L., Oldani, A., Zucconi, M., Malcovati, M., Dalprà, L., Tenchini, M.L. Neuroreport (2000) [Pubmed]
  4. In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs. Soldà, G., Boi, S., Duga, S., Fornasari, D., Benfante, R., Malcovati, M., Tenchini, M.L. Gene (2005) [Pubmed]
  5. Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms. Duga, S., Soldà, G., Asselta, R., Bonati, M.T., Dalprà, L., Malcovati, M., Tenchini, M.L. J. Hum. Genet. (2001) [Pubmed]
  6. Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease. Kawamata, J., Shimohama, S. J. Alzheimers Dis. (2002) [Pubmed]
  7. Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. Lev-Lehman, E., Bercovich, D., Xu, W., Stockton, D.W., Beaudet, A.L. J. Hum. Genet. (2001) [Pubmed]
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