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Gene Review

CHRNA5  -  cholinergic receptor, nicotinic, alpha 5...

Homo sapiens

Synonyms: NACHRA5, Neuronal acetylcholine receptor subunit alpha-5
 
 
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High impact information on CHRNA5

  • 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].
  • For severity of nicotine dependence, two SNPs in CHRNA7 (rs1909884 and rs883473), one SNP in CHRNA5 (rs680244) and the interaction of a SNP in CHRNA7 (rs2337980) with neuroticism, were included in the model (P=2.24 x 10(-7), Nagelkerke r(2)=0.40) [2].
  • Linkage analysis using CEPH pedigrees showed that the CHRNA5 gene was closely linked to the following chromosome 15 loci: D15S46, D15S52, D15S28, D15S34, and D15S35 [3].
  • But despite some positive linkage results including the CHRNA3-CHRNA5-CHRNB2 cluster on chromosome 15q24, no further mutations have been found so far [4].
  • The mutation screening of functionally important parts of CHRNA5 in 12 ADNFLE patients did not support a causative role of this nicotinic acetylcholine receptor subunit [4].
 

Biological context of CHRNA5

  • 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 [5].
  • Moreover, two hitherto unknown introns were identified within the 3' untranslated region of CHRNA3, causing a partial tail-to-tail overlap with CHRNA5 [6].
  • Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms [6].
 

Other interactions of CHRNA5

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. Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes. Greenbaum, L., Kanyas, K., Karni, O., Merbl, Y., Olender, T., Horowitz, A., Yakir, A., Lancet, D., Ben-Asher, E., Lerer, B. Mol. Psychiatry (2006) [Pubmed]
  3. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Eng, C.M., Kozak, C.A., Beaudet, A.L., Zoghbi, H.Y. Genomics (1991) [Pubmed]
  4. Neuronal nicotinic receptors in human epilepsy. Steinlein, O.K. Eur. J. Pharmacol. (2000) [Pubmed]
  5. 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]
  6. 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]
 
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