Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Nature Genetics

Volumn 44, Issue 11, 2012, Pages 1272-1276

  Pohler, Elizabeth ^a   Mamai, Ons ^b,c   Hirst, Jennifer ^d   Zamiri, Mozheh ^e   Horn, Helen ^f   Nomura, Toshifumi ^g   Irvine, Alan D ^h,i   Moran, Benvon ^h   Wilson, Neil J ^a   Smith, Frances J D ^a   Goh, Christabelle S M ^a   Sandilands, Aileen ^a   Cole, Christian ^a   Barton, Geoffrey J ^a   Evans, Alan T ^j   Shimizu, Hiroshi ^g   Akiyama, Masashi ^k   Suehiro, Mitsuhiro ^l   Konohana, Izumi ^m   Shboul, Mohammad ^c   Teissier, Sebastien ^c   Boussofara, Lobna ^b   Denguezli, Mohamed ^b   Saad, Ali ^b   Gribaa, Moez ^b   Dopping Hepenstal, Patricia J ⁿ   McGrath, John A ^o   Brown, Sara J ^a   Goudie, David R ^j   Reversade, Bruno ^c,p   Munro, Colin S ^q   Irwin McLean, W H ^a   more..

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b FARHAT HACHED HOSPITAL   (Tunisia)

^c INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e CROSSHOUSE HOSPITAL   (United Kingdom)

^f ROYAL INFIRMARY OF EDINBURGH   (United Kingdom)

^g HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h OUR LADY S CHILDREN S HOSPITAL   (Ireland)

ⁱ TRINITY COLLEGE DUBLIN   (Ireland)

^j UNIVERSITY OF DUNDEE   (United Kingdom)

^k NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^l OTSU MUNICIPAL HOSPITAL   (Japan)

^m Hiratsuka Municipal Hospital   (Japan)

ⁿ ST THOMAS HOSPITAL   (United Kingdom)

^o KING'S COLLEGE LONDON   (United Kingdom)

^p NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^q SOUTHERN GENERAL HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AAGAB PROTEIN; ADAPTOR PROTEIN; CLATHRIN; EPIDERMAL GROWTH FACTOR RECEPTOR; GAMMA ADAPTIN; GROWTH FACTOR RECEPTOR; GUANOSINE TRIPHOSPHATASE; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL DIVISION; CELL MIGRATION; CELL PROLIFERATION; ENDOSOME; EPIDERMIS; FAMILY; FOOT SOLE; GENE SILENCING; HAPLOINSUFFICIENCY; HUMAN; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; PALMOPLANTAR KERATODERMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; RECYCLING;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; CARRIER PROTEINS; CHROMOSOME MAPPING; CYTOSOL; GENE EXPRESSION REGULATION; HAPLOINSUFFICIENCY; HELA CELLS; HUMANS; KERATINOCYTES; PEDIGREE; POROKERATOSIS; PROTEIN BINDING; PROTEINS; RECEPTOR, EPIDERMAL GROWTH FACTOR;

SOLEIDAE;

EID: 84868205726     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2444     Document Type: Article

References (31)

1. Itin, P.H. & Fistarol, S.K. Palmoplantar keratodermas. Clin. Dermatol. 23, 15-22 (2005).
2. Stevens, H.P. et al. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch. Dermatol. 132, 640-651 (1996).
3. Kelsell, D.P. & Stevens, H.P. The palmoplantar keratodermas: much more than palms and soles. Mol. Med. Today 5, 107-113 (1999).
4. Emmert, S. et al. 47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. Eur. J. Dermatol. 13, 16-20 (2003).
5. Martinez-Mir, A. et al. Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. J. Med. Genet. 40, 872-878 (2003).
6. Gao, M. et al. Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31. Br. J. Dermatol. 152, 874-878 (2005).
7. Jung, E.G. Acrokeratoelastoidosis. Humangenetik 17, 357-358 (1973).
8. Zhang, X.J. et al. Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21. J. Invest. Dermatol. 122, 1121-1125 (2004).
9. El Amri, I. et al. Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family. Ann. Dermatol. Venereol. 137, 269-275 (2010).
10. Page, L.J., Sowerby, P.J., Lui, W.W. & Robinson, M.S. γ-synergin: an EH domain-containing protein that interacts with γ-adaptin. J. Cell Biol. 146, 993-1004 (1999).
11. Boukamp, P. et al. Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line. J. Cell Biol. 106, 761-771 (1988).
12. Robinson, M.S. & Bonifacino, J.S. Adaptor-related proteins. Curr. Opin. Cell Biol. 13, 444-453 (2001).
13. Robinson, M.S. Adaptable adaptors for coated vesicles. Trends Cell Biol. 14, 167-174 (2004).
14. Horgan, C.P. & McCaffrey, M.W. Rab GTPases and microtubule motors. Biochem. Soc. Trans. 39, 1202-1206 (2011).
15. Ceresa, B.P. Regulation of EGFR endocytic trafficking by rab proteins. Histol. Histopathol. 21, 987-993 (2006).
16. Rappoport, J.Z. & Simon, S.M. Endocytic trafficking of activated EGFR is AP-2 dependent and occurs through preformed clathrin spots. J. Cell Sci. 122, 1301-1305 (2009).
17. Downward, J., Parker, P. & Waterfield, M.D. Autophosphorylation sites on the epidermal growth factor receptor. Nature 311, 483-485 (1984).
18. Sousa, L.P. et al. Suppression of EGFR endocytosis by dynamin depletion reveals that EGFR signaling occurs primarily at the plasma membrane. Proc. Natl. Acad. Sci. USA 109, 4419-4424 (2012).
19. Goh, L.K., Huang, F., Kim, W., Gygi, S. & Sorkin, A. Multiple mechanisms collectively regulate clathrin-mediated endocytosis of the epidermal growth factor receptor. J. Cell Biol. 189, 871-883 (2010).
20. Sprecher, E. et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am. J. Hum. Genet. 77, 242-251 (2005).
21. Gissen, P. et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction- cholestasis (ARC) syndrome. Nat. Genet. 36, 400-404 (2004).
22. Montpetit, A. et al. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLoS Genet. 4, e1000296 (2008).
23. Van Gele, M., Dynoodt, P. & Lambert, J. Griscelli syndrome: a model system to study vesicular trafficking. Pigment Cell Melanoma Res. 22, 268-282 (2009).
24. Tarpey, P.S. et al. Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am. J. Hum. Genet. 79, 1119-1124 (2006).
25. Bennion, S.D. & Patterson, J.W. Keratosis punctata palmaris et plantaris and adenocarcinoma of the colon. A possible familial association of punctate keratoderma and gastrointestinal malignancy. J. Am. Acad. Dermatol. 10, 587-591 (1984).
26. Armstrong, D.K. et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum. Mol. Genet. 8, 143-148 (1999).
27. Wan, H. et al. Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. Br. J. Dermatol. 150, 878-891 (2004).
28. McLean, W.H. Genetic disorders of palm skin and nail. J. Anat. 202, 133-141 (2003).
29. Cottingham, R.W. Jr., Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252-263 (1993).
30. Schäffer, A.A., Gupta, S.K., Shriram, K. & Cottingham, R.W. Jr. Avoiding recomputation in linkage analysis. Hum. Hered. 44, 225-237 (1994).
31. Hirst, J., Miller, S.E., Taylor, M.J., von Mollard, G.F. & Robinson, M.S. EpsinR is an adaptor for the SNARE protein Vti1b. Mol. Biol. Cell 15, 5593-5602 (2004).