Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis

American Journal of Human Genetics
Ken AritaJohn A McGrath

Abstract

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 beta (OSMRbeta), in three families. OSMRbeta 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.

References

Feb 1, 1985·The British Journal of Dermatology·J A NewtonD H McGibbon
Dec 3, 1999·Ultrastructural Pathology·C SchepisV Cavallari
Dec 22, 1999·Clinical and Experimental Dermatology·S T Hartshorne
May 30, 2003·The Biochemical Journal·Peter C HeinrichFred Schaper
Jun 20, 2003·The European Journal of Neuroscience·Shinobu TamuraEmiko Senba
Jul 17, 2003·Clinical Endocrinology·Uberta VergaPaolo Beck-Peccoz
Jun 9, 2004·Nature Immunology·Stacey R DillonJane A Gross
Jan 20, 2005·The British Journal of Dermatology·M-W LinS-F Tsai
Jul 19, 2005·Cytokine·Nika FineltMiroslav Blumenberg
Feb 8, 2006·The Journal of Allergy and Clinical Immunology·Eniko SonkolyBernhard Homey
May 4, 2006·The Journal of Clinical Investigation·Ralf PausMartin Steinhoff
Dec 7, 2006·The Journal of Biological Chemistry·Souvik ChattopadhyayHeinz Baumann
May 18, 2007·The Journal of Investigative Dermatology·Alireza MirmohammadsadeghUlrich R Hengge

❮ Previous
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Citations

Dec 25, 2010·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·S SchremlP Babilas
Mar 26, 2009·Der Pathologe·S SchremlP Babilas
Jul 9, 2008·Current Allergy and Asthma Reports·Gil Yosipovitch, Alexandru D P Papoiu
Aug 20, 2009·European Journal of Human Genetics : EJHG·Ming-Wei LinShih-Feng Tsai
Jan 20, 2012·The American Journal of Dermatopathology·Angel Fernandez-Flores
Feb 16, 2011·BMC Dermatology·Wenlin YangWensheng Lin
Jul 24, 2014·BioMed Research International·Marjan SaeediReza M Robati
Dec 3, 2014·Immunology and Allergy Clinics of North America·Jonathan J LyonsKelly D Stone
Dec 21, 2012·Journal of Cell Communication and Signaling·Gourav DeyT S Keshava Prasad
Jan 25, 2011·International Immunopharmacology·Yoshitaka HosokawaTakashi Matsuo
Jun 13, 2016·Journal of Dermatological Science·Daisuke UeoSakuhei Fujiwara
Mar 11, 2018·Experimental Dermatology·Chisa NakashimaKenji Kabashima
Jun 13, 2008·The British Journal of Dermatology·B MaddisonG Yosipovitch
Jul 15, 2009·Clinical and Experimental Dermatology·Y-G ZuoQ-N Sun
May 29, 2010·Experimental Dermatology·Akio TanakaJohn A McGrath
Jul 28, 2018·Endocrine Connections·Xiao-Ping QiJian-Qiang Zhao
Oct 12, 2018·The American Journal of Dermatopathology·Bevin BhoyrulSangeetha Shanmugam
Jan 11, 2016·The British Journal of Dermatology·H L TeyG Yosipovitch
Jun 19, 2016·The British Journal of Dermatology·S Schreml
Feb 6, 2020·British Journal of Pharmacology·Benjamin CordenStuart A Cook
Mar 25, 2020·The Journal of Experimental Medicine·Vivien BéziatAnne Puel
May 8, 2010·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Cécile CaubetGuy Serre
May 23, 2013·Clinical and Experimental Dermatology·S SchremlP Babilas
Jan 11, 2012·Clinical and Experimental Otorhinolaryngology·Il Ki HongDeog Yoon Kim
Feb 26, 2019·SAGE Open Medical Case Reports·Christina M HuangRobert Gniadecki
Mar 16, 2013·Journal of the European Academy of Dermatology and Venereology : JEADV·B ChiaH L Tey
Dec 12, 2013·Journal of Cutaneous Pathology·Andrea Saggini, Thaddeus Mully
Oct 10, 2018·Endocrine Connections·Xiao-Ping QiJian-Qiang Zhao
Jun 13, 2018·Frontiers in Endocrinology·Maren Leifheit-Nestler, Dieter Haffner
Sep 26, 2020·Journal of the European Academy of Dermatology and Venereology : JEADV·K Fourzali, G Yosipovitch
Mar 7, 2021·Biomedicines·Yoshie UmeharaFrançois Niyonsaba

❮ Previous
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