title: MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
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.
authors: Department of Pediatrics II, Innsbruck Medical University, 6020 Innsbruck, Austria.
authors: Thomas
authors: T
authors: Müller
authors: Michael W
authors: MW
authors: Hess
authors: Natalia
authors: N
authors: Schiefermeier
authors: Kristian
authors: K
authors: Pfaller
authors: Hannes L
authors: HL
authors: Ebner
authors: Peter
authors: P
authors: Heinz-Erian
authors: Hannes
authors: H
authors: Ponstingl
authors: Joachim
authors: J
authors: Partsch
authors: Barbara
authors: B
authors: Röllinghoff
authors: Henrik
authors: H
authors: Köhler
authors: Thomas
authors: T
authors: Berger
authors: Henning
authors: H
authors: Lenhartz
authors: Barbara
authors: B
authors: Schlenck
authors: Roderick J
authors: RJ
authors: Houwen
authors: Christopher J
authors: CJ
authors: Taylor
authors: Heinz
authors: H
authors: Zoller
authors: Silvia
authors: S
authors: Lechner
authors: Olivier
authors: O
authors: Goulet
authors: Gerd
authors: G
authors: Utermann
authors: Frank M
authors: FM
authors: Ruemmele
authors: Lukas A
authors: LA
authors: Huber
authors: Andreas R
authors: AR
authors: Janecke
mesh_terms: D016764:Cell Polarity / Q000502:physiology*; D018389:Codon, Nonsense / Q000235:genetics*; D020895:Enterocytes / Q000473:pathology*; D004848:Epithelium / Q000473:pathology*; D005260:Female; D008040:Genetic Linkage; D015894:Genome, Human; D006720:Homozygote; D006801:Humans; D002479:Inclusion Bodies; D007223:Infant; D008297:Male; D008871:Microvilli / Q000473:pathology*; D020125:Mutation, Missense / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D024701:Myosin Type V / Q000235:genetics*; D011990:Receptors, Transferrin / Q000235:genetics / Q000378:metabolism
chemical_list: D018389:Codon, Nonsense; C505832:MYO5B protein, human; D011990:Receptors, Transferrin; D024701:Myosin Type V; D018995:Myosin Heavy Chains