MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

被引：273

作者：

Mueller, Thomas ^{[2
]}

Hess, Michael W. ^{[3
]}

Schiefermeier, Natalia ^{[4
]}

Pfaller, Kristian ^{[3
]}

Ebner, Hannes L. ^{[3
]}

Heinz-Erian, Peter ^{[2
]}

Ponstingl, Hannes ^{[5
]}

Partsch, Joachim ^{[6
]}

Roellinghoff, Barbara ^{[6
]}

Koehler, Henrik ^{[7
]}

Berger, Thomas ^{[8
]}

Lenhartz, Henning ^{[9
]}

Schlenck, Barbara ^{[10
]}

Houwen, Roderick J. ^{[11
]}

Taylor, Christopher J. ^{[12
]}

Zoller, Heinz ^{[13
]}

Lechner, Silvia ^{[1
,14
]}

Goulet, Olivier ^{[15
]}

Utermann, Gerd ^{[1
]}

Ruemmele, Frank M. ^{[15
]}

Huber, Lukas A. ^{[4
]}

Janecke, Andreas R. ^{[1
]}

机构：

[1] Innsbruck Med Univ, Div Clin Genet, A-6020 Innsbruck, Austria

[2] Innsbruck Med Univ, Dept Pediat 2, A-6020 Innsbruck, Austria

[3] Innsbruck Med Univ, Div Histol & Embryol, A-6020 Innsbruck, Austria

[4] Innsbruck Med Univ, Div Cell Biol, Bioctr, A-6020 Innsbruck, Austria

[5] Sanger Inst, Wellcome Trust, Sequencing Informat Div, Cambridge CB10 1SA, England

[6] Childrens Hosp Esslingen, D-73730 Esslingen, Germany

[7] Univ Erlangen Nurnberg, Dept Pediat, D-91054 Erlangen, Germany

[8] Univ Witten Herdecke, Dept Pediat, D-45711 Datteln, Germany

[9] Childrens Hosp Wilhelmstift, D-22194 Hamburg, Germany

[10] Innsbruck Med Univ, Div Pediat Urol, A-6020 Innsbruck, Austria

[11] Wilhelmina Childrens Hosp, NL-3508 AB Utrecht, Netherlands

[12] Univ Sheffield, Dept Child Hlth, Sheffield S10 2TH, S Yorkshire, England

[13] Innsbruck Med Univ, Clin Div Gastroenterol & Hepatol, A-6020 Innsbruck, Austria

[14] Univ Hlth Sci Med Informat & Technol, Inst Appl Syst Res & Dev, A-6060 Hall In Tirol, Austria

[15] Univ Paris 05, AP HP, Inst Natl Sante Rech Med,INSERM U 793, Fac Necker,Dept Pediat,Serv Gastroenterol Pediat, F-75743 Paris, France

来源：

NATURE GENETICS | 2008年 / 40卷 / 10期

基金：

奥地利科学基金会;

关键词：

D O I：

10.1038/ng.225

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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.

引用

页码：1163 / 1165

页数：3

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