Kalay, E., Uzumcu, A., Krieger, E., Caylan, R., Uyguner, O., Ulubil-Emiroglu, M., Erdol, H., Kayserili, H., Hafiz, G., Baserer, N., Heister, A.J., Hennies, Hans C., Nürnberg, P., Basaran, S., Brunner, H.G., Cremers, C.W., Karaguzel, A., Wollnik, B. and Kremer, H. (2007) MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. American Journal of Medical Genetics. Part A, 143A (20). pp. 2382-2389. ISSN 1552-4825Metadata only available from this repository.
Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed significant linkage to a critical interval harboring a known deafness gene MYO15A on chromosome 17p13.1-17q11.2. Subsequent sequencing of the MYO15A gene led to the identification of a novel missense mutation, c.5492G [RIGHTWARDS ARROW] T (p.Gly1831Val) and a novel splice site mutation, c.8968 − 1G [RIGHTWARDS ARROW] C. These mutations were not detected in additional 64 unrelated ARNSHI index patients and in 230 Turkish control chromosomes. Gly1831 is a conserved residue located in the motor domains of the different classes of myosins of different species. Molecular modeling of the motor head domain of the human myosin XVa protein suggests that the Gly1831Val mutation inhibits the powerstroke by reducing backbone flexibility and weakening the hydrophobic interactions necessary for signal transmission to the converter domain.
|Additional Information:||Unmapped bibliographic data: ST - MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation [Field not mapped to EPrints] LB - 6 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]|
|Uncontrolled Keywords:||Base Sequence|
|Subjects:||Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
|Schools:||School of Applied Sciences|
|Depositing User:||Hans Hennies|
|Date Deposited:||14 Jul 2016 13:51|
|Last Modified:||29 Jul 2016 14:40|
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