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Article . 2012 . Peer-reviewed
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Nature Genetics
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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Authors: Pohler, Elizabeth; Mamai, Ons; Hirst, Jennifer; Zamiri, Mozheh; Horn, Helen; Nomura, Toshifumi; Irvine, Alan D.; +25 Authors

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

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.

Countries
Netherlands, United Kingdom, United Kingdom, Ireland
Keywords

Keratinocytes, 570, PROTEINS, EGFR, Immunology, 610, Haploinsufficiency, Article, Cytosol, Inflammation & Infection, ENDOCYTIC TRAFFICKING, LOCUS, Humans, Palmoplantar keratodermas (PPKs), IDENTIFICATION, MUTATIONS, OCCURS, Chromosome Mapping, Proteins, Pedigree, Porokeratosis, ErbB Receptors, Adaptor Proteins, Vesicular Transport, Gene Expression Regulation, Immunology, Inflammation & Infection, MEMBRANE, GROWTH-FACTOR RECEPTOR, Carrier Proteins, DESMOPLAKIN, HeLa Cells, Protein Binding

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    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
80
Top 10%
Top 10%
Top 10%
Green
hybrid