Myosins have several known functions (muscle contraction, cell adhesion, intrace

Question

Myosins have several known functions (muscle contraction, cell adhesion, intracellular vesicle trafficking, and transcription). Select one of the phenotypes associted with the frozen mutant and diagram and describe how the mutation in myo18b could lead to this phenotype through all four of these possible mechanisms

Notes:

please write on your own words and diagram and include sources if used please.

Questions explination: These are the four mechanisms (muscle contraction, cell adhesion, intracellular vesicle trafficking, and transcription), what happen to one phenotype (choose one phenotype caused by frozen mutant) in each one of these four mechanisms when myo18b mutated

Explanation / Answer

Myosin18b is an unconventional myosin that is functional in tumor progression in humans. The mutation in Myo18b gene according to a research study is observed to be causing loss of function in the patients that exhibit symptoms of nemaline myopathy. It has been found in mouse that mutation in Myo18b leads to the arrest of the growth and development involved in cardiomyopathy and shows its effect on the skeletal muscle development. The frozen mutant embryos display the lack of birefringency in the skeletal muscle indicating the disrupted sarcomeric arrangement.

Sarcomeric assembly is disturbed in the early stages of the fro mutants resulting in the disorganized gathering of actin, -actinin and myosin and complete lacking of arrangement of myofibrils in fast-twitch muscles. Meiotic mapping was done to identify the fro locus and match it with the myo18b gene of zebra fish. The product of this gene is found to show 50percent identity with its human orthologue. Transcription of this gene is found to be coding the fast-twitch myocytes in the embryo of zebra fish. Hence, fro mutant embryos are observed to be showing defects in the fast-twitch skeletal muscles.

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