Abstract
Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli. In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Cell Polarity / physiology*
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Codon, Nonsense / genetics*
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Enterocytes / pathology*
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Epithelium / pathology*
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Female
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Genetic Linkage
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Genome, Human
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Homozygote
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Humans
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Inclusion Bodies
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Infant
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Male
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Microvilli / pathology*
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Mutation, Missense / genetics*
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Myosin Heavy Chains / genetics*
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Myosin Type V / genetics*
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Receptors, Transferrin / genetics
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Receptors, Transferrin / metabolism
Substances
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Codon, Nonsense
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MYO5B protein, human
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Receptors, Transferrin
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Myosin Type V
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Myosin Heavy Chains