The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha 3-subunit genes (CHRNB2 and CHRNA3)

The alpha 4-subunit gene (CHRNA4) of the neuronal nicotinic acetylcholine r eceptor (nAChR) subunit family has recently been identified in two families as the gene responsible for autosomal dominant nocturnal frontal lobe epil epsy (ADNFLE), a rare monogenic idiopathic epilepsy. As a result of this fi nding, other subunits of the neuronal nAChR gene family are being considere d as candidate genes for ADNFLE in families not linked to CHRNA4 and for ot her idiopathic epilepsies. alpha 4-subunits often assemble together with be ta 2-subunits (gene symbol CHRNB2) to build heteromeric nAChRs. The gene en coding another abundant AChR subunit, the alpha 3-subunit gene (CHRNA3), is present with those encoding two other subunits, CHRNB4 and CHRNA5, in a ge ne cluster whose functional role is still unclear. Here we provide the info rmation on the genomic structures of both the CHRNB2 and the CHRNA3 genes t hat is necessary for comprehensive mutational analyses, and we refine the g enomic assignment of CHRNB2 on chromosome 1.