QuestionQuestion

Briefly discuss how mutations in the following intermediate filaments or cytoskeletal linker proteins cause the diseases or phenotypes in humans or mice. Explain whether you think they would be dominant or recessive.
1. Mutations in K5 cause epidermolysis bulosa simplex
2. Mutations in NEFL cause Charcot-Marie-Tooth type 2E
3. Mutations in desmin cause cardiomyopathy
4. Deletion of BPAG1 in mice causes sensory neuron defects, but only minor skin defects
5. Mutations in dystrophin cause Duchenne's muscular dystrophy

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1. Epidermolysis bullosa simplex, the skin condition with mechanically produced bullous lesions, is caused by dominant-negative mutations in the KRT5 gene, which encodes basal keratin 5 (K5). The clinical severity depends on the mutation location. In the most severe phenotype, missense mutations affect the helix boundary motifs (HBMs), the sequences of the K5 rod domains that have an important role in the formation of filaments (initial interaction between dimers) (1). These mutations lead to the defected assembly of keratin and its aggregation, causing fragility of keratinocytes. Further, mechanical trauma can cause the breaking of these weakened filaments leading to the epidermal cytolysis and the formation of blisters...
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