MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

T Müller, MW Hess, N Schiefermeier, K Pfaller… - Nature …, 2008 - nature.com
T Müller, MW Hess, N Schiefermeier, K Pfaller, HL Ebner, P Heinz-Erian, H Ponstingl…
Nature genetics, 2008nature.com
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.
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.
nature.com