MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Thomas Müller,Natalia Schiefermeier,Silvia Lechner,Thomas Berger,Hannes Ponstingl,Olivier Goulet,Roderick J Houwen,Joachim Partsch,Kristian Pfaller,Gerd Utermann,Henning Lenhartz,Henrik Köhler,Frank M Ruemmele,Barbara Schlenck,Barbara Röllinghoff,Heinz Zoller,Hannes Ebner ,Lukas A Huber ,Christopher J Taylor ,Peter Heinz‐Erian ,Michael W Hess ,Andreas R Janecke

doi:10.1038/ng.225

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Thomas Müller, Natalia Schiefermeier + Show 20 more

https://doi.org/10.1038/ng.225

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Journal: Nature genetics	Publication Date: Aug 24, 2008
Citations: 325

Affiliation: Innsbruck Medical University, Witten/Herdecke University, Wellcome Sanger Institute, Délégation Paris 5, Assistance Publique – Hôpitaux de Paris, Inserm, Université Paris Cité, Wilhelmina Children's Hospital, Klinikum Esslingen, Katholisches Kinderkrankenhaus Wilhelmstift, University of Erlangen-Nuremberg, University of Sheffield

#Microvillus Inclusion Disease #MYO5B Mutations + Show 8 more

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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.

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