Photopigment genes, cones, and color update: disrupting the splicing code causes a diverse array of vision disorders.
Journal
Current opinion in behavioral sciences
ISSN: 2352-1546
Titre abrégé: Curr Opin Behav Sci
Pays: Netherlands
ID NLM: 101644944
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
entrez:
21
3
2020
pubmed:
21
3
2020
medline:
21
3
2020
Statut:
ppublish
Résumé
The human long- and middle-wavelength sensitive cone opsin genes exhibit an extraordinary degree of haplotype diversity that results from recombination mechanisms that have intermixed the genes. As a first step in expression, genes-including the protein coding exons and intervening introns-are transcribed. Next, transcripts are spliced to remove the introns and join the exons to generate a mature message that codes for the protein. Important information necessary for splicing is contained within exons, and is overlaid by the protein code. Intermixing the long- and middle-wavelength sensitive cone opsin genes has disrupted the splicing code, leading to exclusion of some exons from the mature message and is associated with several vision disorders including nearsightedness, cone dystrophy, and color vision deficiencies.
Identifiants
pubmed: 32195292
doi: 10.1016/j.cobeha.2019.05.004
pmc: PMC7081934
mid: NIHMS1532895
doi:
Types de publication
Journal Article
Langues
eng
Pagination
60-66Subventions
Organisme : NEI NIH HHS
ID : F32 EY007031
Pays : United States
Organisme : NEI NIH HHS
ID : P30 EY001730
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY028118
Pays : United States
Organisme : NEI NIH HHS
ID : T32 EY007031
Pays : United States
Déclaration de conflit d'intérêts
Declaration of Interests: Maureen Neitz and Jay Neitz have significant financial interest in the company Waveshift and its subsidiaries, SightGlass and Visu, and receive royalties from the University of Washington for intellectual property, including patents, licensed to these companies. Sara Patterson: none
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