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The Molecular and Biological Basis of Genetic Deafness


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Recent Publications (since 1998 only, not including abstracts)


Peer-reviewed papers:

Self T, Mahony M, Fleming J, Walsh J, Brown SDM and Steel KP (1998) Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 125:557-566.

Hughes DC, Legan PK, Steel KP and Richardson GP (1998) Mapping of the alpha tectorin gene to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. Genomics 48:46-51.

Cable J and Steel KP (1998) Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ) mouse. Hearing Research 123:125-136.

Liu X-Z, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S and Brown SDM (1998) Mutations in the myosin VIIA gene cause a wide phenotypic spectrum including atypical Usher syndrome. Am. J. Hum. Genet. 63:909-912.

Rogers MJC, Fleming J, Kiernan BW, Mburu P, Varela A, Brown SDM and Steel KP (1999) Genetic mapping of the whirler mutation. Mammalian Genome 10:513-519.

Liu X-Z, Hope C, Liang CY, Zou JM, Xu LR, Cole T, Mueller RF, Bundey S, Nance W, Steel KP and Brown SDM (1999) A mutation (2314delG) in the Usher syndrome type II gene: High prevalence and phenotypic variation. Am. J. Hum. Genet. 64:1221-1225.

Liu X, Udovichenko IP, Brown SDM, Steel KP and Williams DS (1999) Myosin VIIa is required for normal opsin distribution in the photoreceptor cilium: implications for blindness in Usher syndrome. J. Neurosci. 19:6267-6274

Dixon, MJ, Gazzard, J, Chaudhry, SS, Sampson, N, Schulte, BA and Steel, KP (1999) Mutation of the basolateral Na-K-Cl cotransporter gene Slc12a2 results in deafness in mice. Human Molecular Genetics 8:1579-1584.

Self, T, Sobe, T, Copeland, NG, Jenkins, NA, Avraham, KB and Steel, KP (1999) Role of myosin VI in the development of cochlear hair cells. Developmental Biology 214:331-341.

Kiernan AE, Zalzman M, Fuchs H, Hrabe de Angelis M, Balling R, Steel KP and Avraham KB (1999) Tailchaser (Tlc): a new mouse mutant with defective cochlear hair bundle organisation. J. Neurocytol. 28:969-985.

Tucker, JB, Mackie, JB, Bussoli, TJ and Steel, KP (1999) Cytoskeletal integration and epithelial pattern in the organ of Corti: response to loss of cell partners in the bronx waltzer mouse. J. Neurocytol. 28:1017-1034.

Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton S, Brown SDM, Steel KP and Nance WE (2000) The GJB3 gene underlies recessive as well as dominant non-syndromic hearing loss. Human Molecular Genetics 9:63-67.

Paige AJW, Kiernan BW, Varela A, Rogers MJC, Hughes D, Steel KP and Brown SDM (2000) A deletion of the Orm1 gene cosegregates with the whirler (wi) deafness mutation: Orm1 as a candidate for the whirler gene. Mammalian Genome 11:51-57.

Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP and Noben-Trauth K (2001) Mutations in otocadherin cause stereocilia disorganisation in waltzer, the mouse model for Usher syndrome type 1D. Nature Genetics 27:103-107.

Libby RT and Steel KP (2001) Electroretinographic anomalies in the shaker1 mutant, a mouse model for Usher syndrome 1B. Invest. Ophthalmol. Vis. Sci. 42:770-778.

Tsai H, Hardisty RE, Rhodes C, Kiernan AE, Roby P, Tymowska-Lalanne Z, Mburu P, Rastan S, Hunter AJ, Brown SDM and Steel KP (2001) The mouse mutant slalom demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti. Human Molecular Genetics 10:507-512

Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP and Hrabé de Angelis M (2001) The Notch ligand Jagged1 is required for inner ear sensory development. Proc. Natl. Acad. Sci. USA 98:3873-3878

Chaudhry SS, Gazzard J, Baldock C, Dixon J, Rock MJ, Skinner GC, Steel KP, Kielty CM, Dixon MJ (2001) Mutation of the gene encoding fibrillin-2 results in syndactylism in mice. Human Molecular Genetics 10:835-843.

Alavizadeh A, Kiernan A, Nolan P, Lo C, Steel KP and Bucan M (2001) The Wheels mutation in the mouse causes vascular, hindbrain and inner ear defects. Developmental Biology 234:244-260.

Kros CJ, Marcotti W, van Netten SM, Self TJ, Libby RT, Brown SDM, Richardson GP and Steel KP (2002) Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations. Nature Neuroscience 5:41-47.

Cheong MA and Steel KP (2001) Early development and degeneration of vestibular hair cells in bronx waltzer mutant mice. Hearing Research, in the press.

Kiernan AE, Erven A, Voegeling S, Peters J, Nolan P, Hunter J, Bacon Y, Steel KP, Brown SDM and Guénet JL (2001) ENU mutagenesis reveals a highly mutable locus on mouse chromosome 4 that affects ear morphogenesis. Mammalian Genome, in the press.

Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB and Steel KP (2001) Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nature Genetics, in the press.c Holme RH and Steel KP (2002) Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hearing Research 169:13-23

Dong S, Leung KKH, Pelling AL, Lee PYT, Tang ASP, Heng HHQ, Tsui LC, Tease C, Fisher G, Steel KP and Cheah KSE (2002) Circling, deafness and yellow coat displayed by yellow submarine (Ysb) and light coat and circling (Lcc) mice with mutations on chromosome 3. Genomics 79;777-784.

Holme RH, Kiernan BW, Brown SDM and Steel KP (2002) The elongation of hair cell stereocilia is defective in the mouse mutant whirler. J. Comp. Neurol. 450:94-102

Erven A, Skynner MJ, Okumura K, Takebayashi S, Brown SDM, Steel KP and Allen ND (2002) A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil. European Journal of Neuroscience, in the press.

Hardisty RE, Erven A, Logan K, Morse S, Guionaud S, Sancho-Oliver S, Hunter AJ, Brown SDM and Steel KP (2002) The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media. J. Assoc. Res. Otolaryngol., in the press.

Hulander M, Kiernan AE, Blomqvist SR, Carlsson P, Steel KP and Enerbäck S (2002) Lack of pendrin expression associated with deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mice. Development, in the press.


Invited commentaries, reviews, books, book chapters and databases (not all peer-reviewed):

Steel KP (1998) Progress in progressive hearing loss. Science 279:1870-1871.

Hardisty RE, Fleming J and Steel KP (1998) The molecular genetics of inherited deafness - Current knowledge and recent advances. J. Lar. Otol. 112:432-437.

Bussoli TJ and Steel KP (1998) The molecular genetics of inherited deafness - Current and future applications. J. Lar. Otol. 112:523-530.

Steel KP and Brown SDM (1998) More deafness genes. Science 280:1403.

Steel, KP (1998) A new era in the genetics of deafness. New Eng. J. Med. 339:1545-1547.

Steel, KP (1998) One connexin, two diseases. Nature Genetics 20:319-320.

Steel, KP (1999) Genetic deafness: a step closer. Pediatrics 103:674.

Steel, KP and Bussoli, TJ (1999) Deafness genes: expressions of surprise. Trends in Genetics 15: 207-211.

Bussoli, TJ and Steel, KP (1999) Gene expression in the developing ear. http://www.ihr.mrc.ac.uk/hereditary/genetable/index.shtml.

Holme, RH and Steel, KP (1999) Genes involved in deafness. Current Opinion in Genetics and Development 9:309-314.

Richardson GP, Forge A, Kros CJ, Marcotti W, Becker D, Williams DS, Thorpe J, Fleming J, Brown SDM and Steel KP (1999) A missense mutation in myosin VIIA prevents aminoglycoside accumulation in cochlear hair cells. Ann. N.Y.Acad. Sci. 884:110-124.

Steel KP (1999) The benefits of recycling. Science 285:1363-1364.

Steel KP (2000) A take on the tectorial membrane. Nature Genetics 24:104.

Steel, KP (2000) New interventions in hearing impairment. British Medical Journal 320:622-625.

Kitamura, K and Steel, KP (editors) (2000) Genetics in Otolaryngology. Advances in Oto-Rhino-Laryngology, Vol. 56. Karger, Basel

Kiernan A and Steel KP (2000) Mouse homologues for human deafness. Genetics in Otolaryngology, ed. K Kitamura and KP Steel, Karger. p233-243.

Tamagawa Y, Kitamura K, Ishida T, Nishizawa M, Liu XZ, Walsh J, Steel KP and Brown SDM (2000) Sensorineural hearing impairment, non-syndromic, dominant DFNA11. Genetics in Otolaryngology, ed. K Kitamura and KP Steel, Karger. p103-106.

Libby, RT and Steel, KP (2000) The roles of unconventional myosins in hearing and deafness. Essays in Biochemistry 35:159-174.

Steel KP, Self TJ, Liu XZ, Avraham KB and Brown SDM (2000) Of mice and men (and myosins). Proceedings of the fifth annual Kresge-Mirmelstein Symposium, Genetics and hearing loss, ed. CI Berlin and BJB Keats. Singular Publishing Group, San Diego. pp1-30.

Nolan P, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray IC, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson JA, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel KP, Voegeling S, Guenet JL, Nickols C, Sadri R, Naase M, Isaacs A, Davies K, Browne M, Fisher EMC, Martin J, Rastan S, Brown SDM and Hunter J. (2000) A systematic genome-wide phenotype-driven mutagenesis programme for gene function studies in the mouse. Nature Genetics 25:440-443.

Steel KP and Kros CJ (2001) Genetics: an approach to understanding auditory function. Nature Genetics 27:143-149

Steel KP (2001) Using mouse mutants to understand non-syndromic genetic deafness. In: Non-syndromic deafness: Clinical issues and research opportunities. ARO Short Course Proceedings, February 2001.

Holme RH and Steel KP (2001) Hair cell function - it's all a matter of organisation. Trends in Molecular Medicine 7:138.

Steel KP (2001) Mouse mutants with hearing or balance defects. http://www.ihr.mrc.ac.uk/hereditary/mutantstable.shtml

Brown SDM and Steel KP (2001) Deafness (DFN) genes. In: Encyclopedia of Molecular Medicine. John Wiley & Sons.

Steel KP (2001) Mouse models for human genetic deafness. Otol. Japan 11:161-173.

Steel KP, Erven A and Kiernan AE (2001) Mice as models for human hereditary deafness. In: Springer Handbook of Auditory Research, eds BJ Keats, AN Popper and RR Fay. Springer, New York. In the press.

Kiernan AE, Steel KP and Fekete DM (2001) Development of the mouse inner ear. In: Mouse Development, eds J Rossant and PPL Tam. Academic Press, San Diego. In the press.

Steel KP (2002) Using mouse mutants to understand the genetics of deafness. Genetics and the function of the auditory system, eds L Tranebjærg, J Christensen-Dalsgaard, T Andersen and T Poulsen. Danavox Symposium, Holmens Trykkeri, Denmark. Pp109-129.

Steel, KP (2002) Varitint-waddler: A double whammy for hearing. Proc. Natl. Acad. Sci., in the press.