Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.
Journal
Journal of the Optical Society of America. A, Optics, image science, and vision
ISSN: 1520-8532
Titre abrégé: J Opt Soc Am A Opt Image Sci Vis
Pays: United States
ID NLM: 9800943
Informations de publication
Date de publication:
01 Apr 2020
01 Apr 2020
Historique:
entrez:
14
5
2020
pubmed:
14
5
2020
medline:
2
3
2021
Statut:
ppublish
Résumé
Here we present evidence implicating disrupted RNA splicing as a potential cause of inherited tritan color vision. Initially we tested 51 subjects for color vision deficiencies. One made significant tritan errors; the others were classified as normal trichromats. The putative tritan subject was the only one of the 51 subjects found to be heterozygous for an OPN1SW gene mutation that disrupts RNA splicing in an in vitro assay. In order to gather further support for the role of the splicing mutation in tritan color vision, the putative tritan subject's mother and sister were examined. They also made tritan errors and had the same OPN1SW gene mutation.
Identifiants
pubmed: 32400513
pii: 427394
doi: 10.1364/JOSAA.381919
pmc: PMC7254067
mid: NIHMS1575923
doi:
Substances chimiques
Rod Opsins
0
short-wavelength opsin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
A26-A34Subventions
Organisme : NEI NIH HHS
ID : P30 EY001730
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY028118
Pays : United States
Références
Hum Mutat. 2008 Jun;29(6):869-78
pubmed: 18412284
Biotechniques. 2006 Aug;41(2):177-81
pubmed: 16925019
Nat Rev Genet. 2004 May;5(5):389-96
pubmed: 15168696
Ophthalmology. 2016 Jun;123(6):1375-85
pubmed: 26976702
Biochem Biophys Res Commun. 2012 Jul 20;424(1):152-7
pubmed: 22732407
Nucleic Acids Res. 2009 May;37(9):e67
pubmed: 19339519
J Opt Soc Am A Opt Image Sci Vis. 2016 Mar;33(3):A65-76
pubmed: 26974943
Am J Hum Genet. 1992 Aug;51(2):444-6
pubmed: 1386496
Vis Neurosci. 2006 May-Aug;23(3-4):403-9
pubmed: 16961973
Exp Eye Res. 2016 Apr;145:444-449
pubmed: 26416182
Science. 1986 Apr 11;232(4747):193-202
pubmed: 2937147
Am J Hum Genet. 2004 May;74(5):917-30
pubmed: 15077201
J Opt Soc Am A Opt Image Sci Vis. 2014 Apr 1;31(4):A375-84
pubmed: 24695196
Vision Res. 2012 Nov 15;73:1-9
pubmed: 23022137
Am J Optom Physiol Opt. 1983 Dec;60(12):964-9
pubmed: 6606981
J Opt Soc Am A Opt Image Sci Vis. 2000 Mar;17(3):499-509
pubmed: 10708031
Proc Natl Acad Sci U S A. 1984 Aug;81(15):4851-5
pubmed: 6589631
J Neurosci. 2005 Oct 19;25(42):9669-79
pubmed: 16237171
Genome Res. 2018 Jan;28(1):100-110
pubmed: 29162642
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Am J Hum Genet. 1992 Mar;50(3):498-507
pubmed: 1531728
Wiley Interdiscip Rev RNA. 2018 Jan;9(1):
pubmed: 28949076
Vision Res. 2015 Nov;116(Pt A):13-24
pubmed: 26368273
Hum Mutat. 2014 Nov;35(11):1354-62
pubmed: 25168334
Br J Ophthalmol. 2002 Dec;86(12):1408-11
pubmed: 12446376
J Opt Soc Am A Opt Image Sci Vis. 2007 May;24(5):1438-47
pubmed: 17429491
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Transl Vis Sci Technol. 2017 May 10;6(3):2
pubmed: 28516000
Am J Ophthalmol. 1982 May;93(5):635-42
pubmed: 6979252
Am J Ophthalmol. 1985 Jul 15;100(1):176-82
pubmed: 3874549
J Opt Soc Am. 1963 Jan;53:185-95
pubmed: 13996879