First Author | British Society of Audiology short papers meeting on experimental studies of hearing and deafness. Cambridge, UK, 22-23 September 1996. Hughes DC | Year | 1997 |
Journal | Br J Audiol | Volume | 31 |
Issue | 2 | Pages | 73-132 (84 Abstr.) |
Mgi Jnum | J:45620 | Mgi Id | MGI:1201262 |
Citation | British Society of Audiology short papers meeting on experimental studies of hearing and deafness. Cambridge, UK, 22-23 September 1996. Hughes DC, et al. (1997) British Society of Audiology short pMapping of the mouse alpha 9 acetylcholine receptor subunit. Br J Audiol 31(2):73-132 (84 Abstr.) |
abstractText | Full text of Abstract. Mapping of the mouse alpha 9 acetylcholine receptor subunit. D.C. Hughes1, A.B. Elgoyhen2, Tracy Bussoli1, M. Meisler3 and D.C. Kohrman3, 1MRC Institute of Hearing Research, University Park, University of Nottingham, Nottingham NG7 2RD, 2lnstituto de Investigaciones Farmacologicas (CONICET), Junin 956, Buenos Aires 1113, Argentina, and 3Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. The mammalian alpha 9 acetylcholine receptor subunit displays a discrete pattern of expression which includes the hypophyseal gland, nasal epithelium, tongue, and the cochlea, where it is expressed in both inner and outer hair cells. Based on the in vitro pharmacological profile, it has been proposed that the previously described cholinergic receptor in the outer hairs cells of the cochlea may be composed of alpha 9 subunits. Using an intronic polymorphism between C57BL/6 and Mus spretus, the mouse alpha 9 acetylcholine receptor subunit gene (Acra9) was mapped on the European Interspecific Backcross (EUCIB) to chromosome 5. Subsequent analysis demonstrated that the Acra9 gene cosegregates with D5Nds2, placing it proximal of Kit/Pdgfra. The recessive mouse mutation piroutte (pi) has previously been mapped approximately 4cM proximal of Kit; pi homozygotes display the characteristic circling, hyperactivity and head tossing behaviour of shaker-waltzer type mutants. Hair cell loss has been noted after postnatal day 12 with later degeneration of spiral ganglion cells and also cell loss in the stria vascularis, macula of the sacculus, cristae of the semicircular canals and in the vestibular ganglia. As such Acra9 represents a plausible candidate for the gene mutated in piroutte. We therefore examined the linkage between pirouette and Acra9 in a cross segregating the pirouette mutation. We found 4/166 recombinations between Acra9 and pi ruling out Acra9 as a candidate for pi. |