MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
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.
Müller
Thomas
T
Department of Pediatrics II, Innsbruck Medical University, 6020 Innsbruck, Austria.
Hess
Michael W
MW
Schiefermeier
Natalia
N
Pfaller
Kristian
K
Ebner
Hannes L
HL
Heinz-Erian
Peter
P
Ponstingl
Hannes
H
Partsch
Joachim
J
Röllinghoff
Barbara
B
Köhler
Henrik
H
Berger
Thomas
T
Lenhartz
Henning
H
Schlenck
Barbara
B
Houwen
Roderick J
RJ
Taylor
Christopher J
CJ
Zoller
Heinz
H
Lechner
Silvia
S
Goulet
Olivier
O
Utermann
Gerd
G
Ruemmele
Frank M
FM
Huber
Lukas A
LA
Janecke
Andreas R
AR
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
D018389:Codon, Nonsense; C505832:MYO5B protein, human; D011990:Receptors, Transferrin; D024701:Myosin Type V; D018995:Myosin Heavy Chains