A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
Adaptor Proteins, Signal Transducing
/ genetics
Animals
Breeding
Cytoskeletal Proteins
/ genetics
Disease Models, Animal
Dog Diseases
/ genetics
Dogs
Female
Genes, Recessive
Genome-Wide Association Study
Humans
Male
Mutation, Missense
Pedigree
Photoreceptor Cells, Vertebrate
/ pathology
Polymorphism, Single Nucleotide
Retinal Degeneration
/ genetics
Retinitis Pigmentosa
/ genetics
Transcriptome
Whole Genome Sequencing
Journal
Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
received:
16
12
2020
accepted:
10
02
2021
pubmed:
20
2
2021
medline:
31
10
2021
entrez:
19
2
2021
Statut:
ppublish
Résumé
Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants in PRCD and BEST1 genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively. However, all retinal dystrophy cases in LHs are not explained by these variants, indicating additional genetic causes of disease in the breed. We collected DNA samples from 10 PRA affected LHs, with known PRCD and BEST1 variants excluded, and 34 unaffected LHs. A genome-wide association study identified a locus on CFA20 (p
Identifiants
pubmed: 33606121
doi: 10.1007/s00439-021-02266-3
pii: 10.1007/s00439-021-02266-3
pmc: PMC8519925
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
Cytoskeletal Proteins
0
IFT122 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1569-1579Informations de copyright
© 2021. The Author(s).
Références
Br J Ophthalmol. 1953 Aug;37(8):487-502
pubmed: 13081944
Curr Genomics. 2011 Jun;12(4):238-49
pubmed: 22131869
Mol Biol Cell. 2017 Feb 1;28(3):429-439
pubmed: 27932497
Gigascience. 2015 Feb 25;4:7
pubmed: 25722852
Nature. 2005 Dec 8;438(7069):803-19
pubmed: 16341006
Am J Hum Genet. 2010 Jun 11;86(6):949-56
pubmed: 20493458
Bioinformatics. 2013 Nov 15;29(22):2943-5
pubmed: 23995393
Hum Genet. 2019 May;138(5):441-453
pubmed: 30904946
Front Genet. 2020 Mar 03;11:152
pubmed: 32194629
Clin Genet. 2013 Aug;84(2):150-9
pubmed: 23683095
Nature. 2014 Mar 27;507(7493):462-70
pubmed: 24670764
Bioinformatics. 2012 Sep 15;28(18):i333-i339
pubmed: 22962449
Mol Vis. 2010 Dec 16;16:2791-804
pubmed: 21197113
Hum Mol Genet. 2018 Feb 1;27(3):516-528
pubmed: 29220510
DNA Cell Biol. 2001 Jan;20(1):41-52
pubmed: 11242542
Database (Oxford). 2016 Jul 09;2016:
pubmed: 27402679
Genes (Basel). 2020 Sep 18;11(9):
pubmed: 32962042
Br J Ophthalmol. 1996 May;80(5):490-1
pubmed: 8695580
Neurogenetics. 2010 May;11(2):163-74
pubmed: 19777273
Canine Genet Epidemiol. 2014 Apr 16;1:4
pubmed: 26401321
Genome Res. 2017 Nov;27(11):1916-1929
pubmed: 28855259
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Vet J. 2011 Aug;189(2):155-9
pubmed: 21752675
Cytogenet Genome Res. 2005;110(1-4):462-7
pubmed: 16093699
Nat Rev Mol Cell Biol. 2002 Nov;3(11):813-25
pubmed: 12415299
Clin Genet. 2013 Aug;84(2):132-41
pubmed: 23701314
Rare Dis. 2016 Sep 28;4(1):e1241362
pubmed: 27803843
Prog Retin Eye Res. 2018 Sep;66:157-186
pubmed: 29597005
PLoS Biol. 2016 Jul 28;14(7):e1002523
pubmed: 27467395
PLoS One. 2016 Aug 15;11(8):e0161005
pubmed: 27525650
PLoS One. 2014 Apr 04;9(4):e93990
pubmed: 24705771
J Biophys Biochem Cytol. 1956 Jul 25;2(4 Suppl):209-18
pubmed: 13357544
Am J Med Genet A. 2016 May;170A(5):1295-301
pubmed: 26792575
G3 (Bethesda). 2017 Jul 5;7(7):2327-2335
pubmed: 28533336
Clin Genet. 2014 Jun;85(6):592-4
pubmed: 23826986
Genomics. 2006 Nov;88(5):551-63
pubmed: 16938425
Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62
pubmed: 26968735
J Biol Chem. 2016 Nov 18;291(47):24465-24474
pubmed: 27681595
Invest Ophthalmol Vis Sci. 1976 Sep;15(9):700-25
pubmed: 986765
Nat Methods. 2015 Oct;12(10):966-8
pubmed: 26258291
Mol Genet Genomic Med. 2014 Mar;2(2):103-6
pubmed: 24689072
PLoS Genet. 2018 Apr 30;14(4):e1007361
pubmed: 29708978
Mamm Genome. 2012 Feb;23(1-2):40-61
pubmed: 22065099
J Cell Sci. 2020 Nov 9;133(21):
pubmed: 33115758
BMC Genet. 2020 Sep 7;21(1):100
pubmed: 32894063
Bioinformatics. 2007 May 15;23(10):1289-91
pubmed: 17379693