Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.
Leber congenital amaurosis
acyl-CoA synthetase
ichthyosis prematurity syndrome
lecithin:retinol acyltransferase
retinal pigment epithelium
retinoid visual cycle
Journal
FEBS letters
ISSN: 1873-3468
Titre abrégé: FEBS Lett
Pays: England
ID NLM: 0155157
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
28
08
2019
revised:
16
09
2019
accepted:
16
09
2019
pubmed:
9
10
2019
medline:
8
10
2020
entrez:
10
10
2019
Statut:
ppublish
Résumé
The retinal pigment epithelium-specific 65 kDa (RPE65) isomerase plays a pivotal role in photoreceptor survival and function. RPE65-catalyzed synthesis of 11-cis-retinol from all-trans-retinyl esters in the visual cycle is negatively regulated, through a heretofore unknown mechanism, by the fatty acid transport protein FATP4, mutations in which are associated with ichthyosis prematurity syndrome (IPS). Here, we analyzed the interaction between deletion mutants of FATP4 and RPE65 and the impacts of IPS-associated FATP4 mutations on RPE65 expression, 11-cis-retinol synthesis, and all-trans-retinyl ester synthesis. Our results suggest that the interaction between FATP4 and RPE65 contributes to the inhibition of RPE65 function and that IPS-associated nonsense and missense mutations in FATP4 have different effects on the visual cycle.
Identifiants
pubmed: 31595490
doi: 10.1002/1873-3468.13633
pmc: PMC7012757
mid: NIHMS1054070
doi:
Substances chimiques
Codon, Nonsense
0
Fatty Acid Transport Proteins
0
SLC27A4 protein, human
0
Vitamin A
11103-57-4
retinoid isomerohydrolase
EC 3.1.1.64
cis-trans-Isomerases
EC 5.2.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
540-552Subventions
Organisme : NCRR NIH HHS
ID : P20 RR016816
Pays : United States
Organisme : NIGMS NIH HHS
ID : P30 GM103340
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY021208
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY028572
Pays : United States
Informations de copyright
© 2019 Federation of European Biochemical Societies.
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