A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment

Mammalian Genome : Official Journal of the International Mammalian Genome Society
Charlotte R RhodesK B Avraham

Abstract

A phenotype-driven approach was adopted in the mouse to identify molecules involved in ear development and function. Mutant mice were obtained using N-ethyl- N-nitrosourea (ENU) mutagenesis and were screened for dominant mutations that affect hearing and/or balance. Heterozygote headbanger ( Hdb/+) mutants display classic behavior indicative of vestibular dysfunction including hyperactivity and head bobbing, and they show a Preyer reflex in response to sound but have raised cochlear thresholds especially at low frequencies. Scanning electron microscopy of the surface of the organ of Corti revealed abnormal stereocilia bundle development from an early age that was more severe in the apex than the base. Utricular stereocilia were long, thin, and wispy. Homozygotes showed a similar but more severe phenotype. The headbanger mutation has been mapped to a 1.5-cM region on mouse Chromosome 7 in the region of the unconventional myosin gene Myo7a, and mutation screening revealed an A>T transversion that is predicted to cause an isoleucine-to-phenylalanine amino acid substitution (I178F) in a conserved region in the motor-encoding domain of the gene. Protein analysis revealed reduced levels of myosin VIIa expression in inner ears of head...Continue Reading

References

Jan 1, 1992·Annual Review of Cell Biology·L G TilneyD J DeRosier
Oct 10, 1995·Proceedings of the National Academy of Sciences of the United States of America·T HassonM S Mooseker
Dec 8, 1994·The Journal of Comparative Neurology·J A KaltenbachT H Simpson
Apr 16, 1996·Proceedings of the National Academy of Sciences of the United States of America·D WeilC Petit
Jan 1, 1997·Cell Motility and the Cytoskeleton·T HassonK P Steel
Oct 20, 1999·Developmental Biology·T SelfK P Steel
Aug 10, 2000·Nature Genetics·M H Hrabé de AngelisR Balling
Jun 9, 2001·American Journal of Human Genetics·Z M AhmedE R Wilcox
Feb 19, 2002·Nature Genetics·Sarah VreugdeKaren P Steel
Mar 13, 2002·The Laryngoscope·Yuya TamagawaKeiichi Ichimura
May 7, 2002·American Journal of Medical Genetics·Lisa M AstutoWilliam J Kimberling
May 29, 2002·The EMBO Journal·Martin KollmarF Jon Kull
Oct 31, 2002·The European Journal of Neuroscience·Alexandra ErvenNicholas D Allen
May 9, 2003·American Journal of Human Genetics·Francesca DonaudyPaolo Gasparini

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Citations

Apr 10, 2010·Journal of Human Genetics·Denise Yan, Xue Z Liu
Apr 14, 2009·Nature Genetics·Morag A LewisKaren P Steel
Aug 1, 2008·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Jeremy C KallmanValerie A Street
Dec 20, 2012·PloS One·Kerry A MillerShehnaaz S M Manji
Oct 3, 2013·PloS One·Kerry A MillerShehnaaz S M Manji
Dec 4, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Anthony W PengStefan Heller
Jun 2, 2012·Frontiers in Bioscience (Landmark Edition)·Duygu Duman, Mustafa Tekin
Jun 15, 2006·The Journal of Membrane Biology·A J RicciS M Van Netten
Sep 12, 2008·Human Genetics·Karen VrijensGuy Van Camp
May 26, 2009·Behavioural Brain Research·Reut AvniMatti Mintz
Feb 14, 2007·Environmental and Molecular Mutagenesis·Ivana BarbaricT Neil Dear
Jan 2, 2010·Brain Research·Shahar SheferMatti Mintz
Feb 21, 2006·Brain Research·Yong TianKirk W Beisel
Apr 22, 2006·Brain Research·Matthew W Kelley
Dec 5, 2015·SpringerPlus·Carole El Hakam KamareddinVeronique Blanquet
Sep 8, 2007·Behavioural Brain Research·Allan V KalueffAndrew J Griffith
Jul 2, 2014·Behavioural Brain Research·Shahar SheferMatti Mintz
Jan 29, 2011·Journal of Occupational and Environmental Medicine·Maya GuestAnthony Brown
Nov 17, 2020·Frontiers in Genetics·Meg WhatleyElaine Y M Wong
Jul 3, 2021·International Journal of Molecular Sciences·Carla Fuster-GarcíaGema García-García

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