Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-10-14

AUTHORS

Elizabeth Pohler, Ons Mamai, Jennifer Hirst, Mozheh Zamiri, Helen Horn, Toshifumi Nomura, Alan D. Irvine, Benvon E. Moran, Neil J. Wilson, Frances J. D. Smith, Christabelle S. M Goh, Aileen Sandilands, Christian Cole, Geoffrey J. Barton, Alan T. Evans, Hiroshi Shimizu, Masashi Akiyama, Akihiro Suehiro, Izumi Konohana, Mohammad Shboul, Sebastien Teissier, Lobna Boussofara, Mohamed Denguezli, Ali Saad, Moez Gribaa, Patricia J. Dopping-Hepenstal, John A McGrath, Sara J. Brown, David R. Goudie, Bruno Reversade, Colin S. Munro, W. H. Irwin McLean

ABSTRACT

Palmoplantar keratodermas (PPKs) are a group of disorders that are diagnostically and therapeutically problematic in dermatogenetics. Punctate PPKs are characterized by circumscribed hyperkeratotic lesions on the palms and soles with considerable heterogeneity. In 18 families with autosomal dominant punctate PPK, we report heterozygous loss-of-function mutations in AAGAB, encoding α- and γ-adaptin-binding protein p34, located at a previously linked locus at 15q22. α- and γ-adaptin-binding protein p34, a cytosolic protein with a Rab-like GTPase domain, was shown to bind both clathrin adaptor protein complexes, indicating a role in membrane trafficking. Ultrastructurally, lesional epidermis showed abnormalities in intracellular vesicle biology. Immunohistochemistry showed hyperproliferation within the punctate lesions. Knockdown of AAGAB in keratinocytes led to increased cell division, which was linked to greatly elevated epidermal growth factor receptor (EGFR) protein expression and tyrosine phosphorylation. We hypothesize that p34 deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation. More... »

PAGES

10.1038/ng.2444

Journal

TITLE

Nature Genetics

ISSUE

11

VOLUME

44

Author Affiliations

  • Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee, UK
  • Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn El Jazzar, 4000 Sousse, Tunisia
  • Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
  • Department of Dermatology, University Hospital Crosshouse, Kilmarnock, UK
  • Department of Dermatology, Royal Infirmary of Edinburgh, Edinburgh, UK
  • Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  • Institute for Molecular Medicine, Trinity College Dublin, Dublin, Ireland
  • Department of Paediatric Dermatology, Our Lady’s Children’s Hospital, Dublin, Ireland
  • Bioinformatics Research Group, Division of Biochemistry and Drug Discovery, College of Life Sciences, University of Dundee, Dundee, UK
  • Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK
  • Department of Dermatology, Nagoya University Graduate School of Medicine. Nagoya, Japan
  • Department of Dermatology, Otsu Municipal Hospital, Otsu, Japan
  • Department of Dermatology, Hiratsuka Municipal Hospital, Hiratsuka, Japan
  • Institute of Medical Biology, A*STAR, Singapore, Singapore
  • Department of Dermatology and Venerology, Farhat Hached University Hospital, Sousse, Tunisia
  • GSTS Pathology, St Thomas’ Hospital, London, UK
  • St John’s Institute of Dermatology, King’s College London, London, UK
  • Human Genetics Unit, Ninewells Hospital and Medical School, Dundee, UK
  • Department of Paediatrics, National University of Singapore, Singapore, Singapore
  • Department of Dermatology, Southern General Hospital, Glasgow, UK
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.2444

    DOI

    http://dx.doi.org/10.1038/ng.2444

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1040493394

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23064416


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