Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/83141
Title: A zebrafish model for a human myopathy associated with mutation of the unconventional myosin MYO18B
Authors: Gurung, Ritika
Ono, Yosuke
Baxendale, Sarah
Lee, Samantha Lin Chiou
Moore, Steven
Calvert, Meredith
Ingham, Philip William
Keywords: Nemaline Myopathy
MYO18B
Science::Medicine
Issue Date: 2017
Source: Gurung, R., Ono, Y., Baxendale, S., Lee, S. L. C., Moore, S., Calvert, M., & Ingham, P. W. (2017). A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B. Genetics, 205(2), 725-735. doi:10.1534/genetics.116.192864
Series/Report no.: Genetics
Abstract: Myosin 18B is an unconventional myosin that has been implicated in tumor progression in humans. In addition, loss-of-function mutations of the MYO18B gene have recently been identified in several patients exhibiting symptoms of nemaline myopathy. In mouse, mutation of Myo18B results in early developmental arrest associated with cardiomyopathy, precluding analysis of its effects on skeletal muscle development. The zebrafish, frozen (fro) mutant was identified as one of a group of immotile mutants in the 1996 Tübingen genetic screen. Mutant embryos display a loss of birefringency in their skeletal muscle, indicative of disrupted sarcomeric organization. Using meiotic mapping, we localized the fro locus to the previously unannotated zebrafish myo18b gene, the product of which shares close to 50% identity with its human ortholog. Transcription of myo18b is restricted to fast-twitch myocytes in the zebrafish embryo; consistent with this, fro mutant embryos exhibit defects specifically in their fast-twitch skeletal muscles. We show that sarcomeric assembly is blocked at an early stage in fro mutants, leading to the disorganized accumulation of actin, myosin, and α-actinin and a complete loss of myofibrillar organization in fast-twitch muscles.
URI: https://hdl.handle.net/10356/83141
http://hdl.handle.net/10220/49114
ISSN: 0016-6731
DOI: 10.1534/genetics.116.192864
Rights: © 2017 Genetics Society of America. All rights reserved.
Fulltext Permission: none
Fulltext Availability: No Fulltext
Appears in Collections:LKCMedicine Journal Articles

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