A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE).
CLE
Canis familiaris
SLE
TLR7
animal model
dermatology
immunology
skin
syndecan binding protein
syntenin-1
systemic lupus erythematosus
toll-like receptor
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
03 02 2020
03 02 2020
Historique:
received:
20
12
2019
revised:
27
01
2020
accepted:
31
01
2020
entrez:
8
2
2020
pubmed:
8
2
2020
medline:
2
12
2020
Statut:
epublish
Résumé
Cutaneous lupus erythematosus (CLE) in humans encompasses multiple subtypes that exhibit a wide array of skin lesions and, in some cases, are associated with the development of systemic lupus erythematosus (SLE). We investigated dogs with exfoliative cutaneous lupus erythematosus (ECLE), a dog-specific form of chronic CLE that is inherited as a monogenic autosomal recessive trait. A genome-wide association study (GWAS) with 14 cases and 29 controls confirmed a previously published result that the causative variant maps to chromosome 18. Autozygosity mapping refined the ECLE locus to a 493 kb critical interval. Filtering of whole genome sequence data from two cases against 654 controls revealed a single private protein-changing variant in this critical interval,
Identifiants
pubmed: 32028618
pii: genes11020159
doi: 10.3390/genes11020159
pmc: PMC7074252
pii:
doi:
Substances chimiques
Membrane Transport Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
J Autoimmun. 2014 Feb-Mar;48-49:14-9
pubmed: 24486120
Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):9970-5
pubmed: 16777955
Curr Opin Pediatr. 2016 Aug;28(4):470-5
pubmed: 27386968
Arthritis Care Res (Hoboken). 2015 May;67(6):817-28
pubmed: 25369985
Science. 2006 Oct 13;314(5797):308-12
pubmed: 16973841
BMC Vet Res. 2018 Apr 18;14(1):132
pubmed: 29669547
Anim Genet. 2019 Dec;50(6):695-704
pubmed: 31486122
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Nucleic Acids Res. 2015 Jan;43(Database issue):D777-83
pubmed: 25404132
Vet Dermatol. 2019 Aug;30(4):350-e102
pubmed: 31038261
Immunity. 2011 Jul 22;35(1):69-81
pubmed: 21683627
Vet Dermatol. 2010 Aug;21(4):373-82
pubmed: 20374572
Science. 2006 Jun 16;312(5780):1669-72
pubmed: 16709748
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Br J Dermatol. 2012 Jan;166(1):29-35
pubmed: 21910708
Clin Dermatol. 2006 Sep-Oct;24(5):348-62
pubmed: 16966017
Immunol Rev. 2009 Jan;227(1):32-43
pubmed: 19120473
Autoimmun Rev. 2013 Jan;12(3):444-54
pubmed: 23000206
Nat Genet. 2001 Aug;28(4):313-4
pubmed: 11479590
Br J Dermatol. 2011 Jun;164(6):1335-41
pubmed: 21574972
Nat Genet. 2012 Jun 17;44(7):821-4
pubmed: 22706312
Nature. 2008 Mar 13;452(7184):234-8
pubmed: 18305481
Lupus. 1997;6(2):84-95
pubmed: 9061656
Immunogenetics. 2011 Apr;63(4):197-207
pubmed: 21132284
Nat Immunol. 2006 Feb;7(2):156-64
pubmed: 16415873
Nat Commun. 2019 Apr 2;10(1):1489
pubmed: 30940804
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
Nat Rev Rheumatol. 2019 Sep;15(9):519-532
pubmed: 31399711
Nature. 2007 Jun 7;447(7145):661-78
pubmed: 17554300
Am J Hum Genet. 2007 Apr;80(4):811-5
pubmed: 17357087
Immunity. 2007 Nov;27(5):801-10
pubmed: 17997333
Nat Genet. 2000 Jun;25(2):177-81
pubmed: 10835632
Arch Dermatol. 2009 Mar;145(3):249-53
pubmed: 19289752
Gene. 2002 Jan 23;283(1-2):209-17
pubmed: 11867227
J Invest Dermatol. 2014 May;134(5):1456-1459
pubmed: 24270665
Nature. 2019 Nov;575(7782):371-374
pubmed: 31546247
Nature. 2019 Nov;575(7782):366-370
pubmed: 31546246
Vet Dermatol. 2005 Aug;16(4):239-52
pubmed: 16101795