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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Oncostatin M Receptor-β Mutations Underlie Familial Primary Localized Cutaneous Amyloidosis
American Journal of Human Genetics, Volume 82, No. 1, Year 2008
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Description
Familial primary localized cutaneous amyloidosis (FPLCA) is an autosomal-dominant disorder associated with chronic skin itching and deposition of epidermal keratin filament-associated amyloid material in the dermis. FPLCA has been mapped to 5p13.1-q11.2, and by candidate gene analysis, we identified missense mutations in the OSMR gene, encoding oncostatin M-specific receptor β (OSMRβ), in three families. OSMRβ is a component of the oncostatin M (OSM) type II receptor and the interleukin (IL)-31 receptor, and cultured FPLCA keratinocytes showed reduced activation of Jak/STAT, MAPK, and PI3K/Akt pathways after OSM or IL-31 cytokine stimulation. The pathogenic amino acid substitutions are located within the extracellular fibronectin type III-like (FNIII) domains, regions critical for receptor dimerization and function. OSM and IL-31 signaling have been implicated in keratinocyte cell proliferation, differentiation, apoptosis, and inflammation, but our OSMR data in individuals with FPLCA represent the first human germline mutations in this cytokine receptor complex and provide new insight into mechanisms of skin itching. © 2008 The American Society of Human Genetics.
Authors & Co-Authors
Arita, Ken
United Kingdom, London
St John's Institute of Dermatology
Japan, Sapporo
Graduate School of Medicine
South, Andrew P.
United Kingdom, London
Barts and the London School of Medicine and Dentistry
Hans-Filho, Günter
Brazil, Campo Grande
Universidade Federal de Mato Grosso do Sul
Sakuma, Thais Harumi
Brazil, Campo Grande
Universidade Federal de Mato Grosso do Sul
Lai-Cheong, Joey
United Kingdom, London
St John's Institute of Dermatology
Clements, Suzanne
United Kingdom, London
St John's Institute of Dermatology
Odashiro, Maçanori
Brazil, Campo Grande
Universidade Federal de Mato Grosso do Sul
Odashiro, Danilo Nakao
Brazil, Campo Grande
Universidade Federal de Mato Grosso do Sul
Hans-Neto, Günter
Brazil, Campo Grande
University for the Development of the State and the Region of Pantanal
Hans, Nelise Ritter
Brazil, Campo Grande
University for the Development of the State and the Region of Pantanal
Holder, Maxine V.
United Kingdom, London
Barts and the London School of Medicine and Dentistry
BHOGAL, B.
United Kingdom, London
Guy's and st Thomas' Nhs Foundation Trust
Hartshorne, Sian T.
South Africa, Johannesburg
University of the Witwatersrand
Akiyama, Masashi
Japan, Sapporo
Graduate School of Medicine
Shimizu, Hiroshi
Japan, Sapporo
Graduate School of Medicine
McGrath, J. A.
United Kingdom, London
St John's Institute of Dermatology
Statistics
Citations: 112
Authors: 16
Affiliations: 7
Identifiers
Doi:
10.1016/j.ajhg.2007.09.002
ISSN:
00029297
Research Areas
Cancer
Genetics And Genomics