Brief Communication abstract
Nature Genetics 40, 1163 - 1165 (2008)
Published online: 24 August 2008 | doi:10.1038/ng.225
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
Thomas Müller1, Michael W Hess2, Natalia Schiefermeier3, Kristian Pfaller2, Hannes L Ebner2, Peter Heinz-Erian1, Hannes Ponstingl4, Joachim Partsch5, Barbara Röllinghoff5, Henrik Köhler6, Thomas Berger7, Henning Lenhartz8, Barbara Schlenck9, Roderick J Houwen10, Christopher J Taylor11, Heinz Zoller12, Silvia Lechner13,14, Olivier Goulet15, Gerd Utermann13,16, Frank M Ruemmele15,16, Lukas A Huber3,16 & Andreas R Janecke13,16
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.
- Department of Pediatrics II, Innsbruck Medical University, 6020 Innsbruck, Austria.
- Division of Histology and Embryology, Innsbruck Medical University, 6020 Innsbruck, Austria.
- Division of Cell Biology, Biocenter, Innsbruck Medical University, 6020 Innsbruck, Austria.
- Sequencing Informatics Division, The Wellcome Trust Sanger Institute, CB10 1SA Cambridge, UK.
- Children's Hospital Esslingen, 73730 Esslingen, Germany.
- Department of Pediatrics, University of Erlangen, 91054 Erlangen, Germany.
- Department of Pediatrics, University of Witten-Herdecke, 45711 Datteln, Germany.
- Children's Hospital Wilhelmstift, 22194 Hamburg, Germany.
- Division of Pediatric Urology, Innsbruck Medical University, 6020 Innsbruck, Austria.
- Pediatric Gastroenterology, Wilhelmina Children's Hospital, P.O. 85090, 3508 AB Utrecht, The Netherlands.
- Department of Child Health, University of Sheffield, S102TH Sheffield, UK.
- Clinical Division of Gastroenterology and Hepatology, Innsbruck Medical University, 6020 Innsbruck, Austria.
- Division of Clinical Genetics, Innsbruck Medical University, 6020 Innsbruck, Austria.
- Institute for Applied Systems Research and Development, University for Health Sciences, Medical Informatics and Technology (UMIT), 6060 Hall, Austria.
- Université Paris Descartes, Faculté Necker, Institut national de la santé et de la recherche médicale (INSERM U793), Assistance Publique-Hopitaux de Paris, Département de Pédiatrie, Service de Gastroentérologie pédiatrique, 75743 Paris, France.
- These authors contributed equally to this work.
Correspondence to: Andreas R Janecke13,16 e-mail: Andreas.Janecke@i-med.ac.at
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
RESEARCH
Identification of an organelle receptor for myosin-VaNature Cell Biology Article (01 Apr 2002)
The Rab8 GTPase regulates apical protein localization in intestinal cellsNature Letters to Editor (19 Jul 2007)
Analytical cell fractionation of isolated rabbit renal proximal tubulesKidney International Original Article
