Mutation Screening in the miR-183/96/182 Cluster in Patients With Inherited Retinal Dystrophy.
inherited retinal dystrophy
miR-183/96/182 cluster
microRNA
sequence variants
susceptibility
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2020
2020
Historique:
received:
20
10
2020
accepted:
07
12
2020
entrez:
11
1
2021
pubmed:
12
1
2021
medline:
12
1
2021
Statut:
epublish
Résumé
Inherited retinal dystrophy (IRD) is a heterogenous blinding eye disease and affects more than 200,000 Americans and millions worldwide. By far, 270 protein-coding genes have been identified to cause IRD when defective. However, only one microRNA (miRNA), miR-204, has been reported to be responsible for IRD when a point-mutation occurs in its seed sequence. Previously, we identified that a conserved, polycistronic, paralogous miRNA cluster, the miR-183/96/182 cluster, is highly specifically expressed in all photoreceptors and other sensory organs; inactivation of this cluster in mice resulted in syndromic IRD with multi-sensory defects. We hypothesized that mutations in the miR-183/96/182 cluster in human cause IRD. To test this hypothesis, we perform mutation screening in the pre-miR-183, -96, -182 in >1000 peripheral blood DNA samples of patients with various forms of IRD. We identified six sequence variants, three in pre-miR-182 and three in pre-miR-96. These variants are in the pre-miRNA-182 or -96, but not in the mature miRNAs, and are unlikely to be the cause of the IRD in these patients. In spite of this, the nature and location of these sequence variants in the pre-miRNAs suggest that some may have impact on the biogenesis and maturation of miR-182 or miR-96 and potential roles in the susceptibility to diseases. Although reporting on negative results so far, our study established a system for mutation screening in the miR-183/96/182 cluster in human for a continued effort to unravel and provides deeper insight into the potential roles of miR-183/96/182 cluster in human diseases.
Identifiants
pubmed: 33425925
doi: 10.3389/fcell.2020.619641
pmc: PMC7785829
doi:
Types de publication
Journal Article
Langues
eng
Pagination
619641Subventions
Organisme : NEI NIH HHS
ID : R01 EY026059
Pays : United States
Informations de copyright
Copyright © 2020 Xu, Coku, Muraleedharan, Harajli, Mishulin, Dahabra, Choi, Garcia, Webb, Birch, Goetz and Li.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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