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Nature Research, Nature Genetics, 10(40), p. 1163-1165, 2008

DOI: 10.1038/ng.225

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MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Journal article published in 2008 by Thomas Müller, Michael W. Hess, Natalia Schiefermeier, Kristian Pfaller, Hannes L. Ebner, Peter Heinz-Erian, Hannes Ponstingl, Joachim Partsch, Barbara Röllinghoff, Henrik Köhler, Thomas Berger, Henning Lenhartz, Barbara Schlenck, Roderick J. Houwen, Christopher J. Taylor and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.