Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish Article Swipe
Emma M. Lessieur
,
Ping Song
,
Gabrielle C Nivar
,
Ellen Piccillo
,
Joseph Fogerty
,
Richard Rozic
,
Brian D. Perkins
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1371/journal.pone.0213960
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1371/journal.pone.0213960
Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA) and retinitis pigmentosa. Results from model organisms and human genetics studies, have suggest that mutations in genes encoding protein components of the transition zone (TZ) and other cilia-associated proteins can function as genetic modifiers and be a source for CEP290 pleiotropy. We investigated the zebrafish cep290fh297/fh297 mutant, which encodes a nonsense mutation (p.Q1217*). This mutant is viable as adults, exhibits scoliosis, and undergoes a slow, progressive cone degeneration. The cep290fh297/fh297 mutants showed partial mislocalization of the transmembrane protein rhodopsin but not of the prenylated proteins rhodopsin kinase (GRK1) or the rod transducin subunit GNB1. Surprisingly, photoreceptor degeneration did not trigger proliferation of Müller glia, but proliferation of rod progenitors in the outer nuclear layer was significantly increased. To determine if heterozygous mutations in other cilia genes could exacerbate retinal degeneration, we bred cep290fh297/fh297 mutants to arl13b, ahi1, and cc2d2a mutant zebrafish lines. While cep290fh297/fh297 mutants lacking a single allele of these genes did not exhibit accelerated photoreceptor degeneration, loss of one alleles of arl13b or ahi1 reduced visual performance in optokinetic response assays at 5 days post fertilization. Our results indicate that the cep290fh297/fh297 mutant is a useful model to study the role of genetic modifiers on photoreceptor degeneration in zebrafish and to explore how progressive photoreceptor degeneration influences regeneration in adult zebrafish.
Related Topics
Concepts
Biology
Retinal degeneration
Zebrafish
Ciliopathies
Retinitis pigmentosa
Joubert syndrome
Genetics
Cilium
Mutant
Bardet–Biedl syndrome
Nonsense mutation
Complementation
Mutation
Genetic screen
Cell biology
Positional cloning
Phenotype
Gene
Missense mutation
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1371/journal.pone.0213960
- https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0213960&type=printable
- OA Status
- gold
- Cited By
- 54
- References
- 85
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2953304144
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2953304144Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1371/journal.pone.0213960Digital Object Identifier
- Title
-
Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafishWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-04-10Full publication date if available
- Authors
-
Emma M. Lessieur, Ping Song, Gabrielle C Nivar, Ellen Piccillo, Joseph Fogerty, Richard Rozic, Brian D. PerkinsList of authors in order
- Landing page
-
https://doi.org/10.1371/journal.pone.0213960Publisher landing page
- PDF URL
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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0213960&type=printableDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0213960&type=printableDirect OA link when available
- Concepts
-
Biology, Retinal degeneration, Zebrafish, Ciliopathies, Retinitis pigmentosa, Joubert syndrome, Genetics, Cilium, Mutant, Bardet–Biedl syndrome, Nonsense mutation, Complementation, Mutation, Genetic screen, Cell biology, Positional cloning, Phenotype, Gene, Missense mutationTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
54Total citation count in OpenAlex
- Citations by year (recent)
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2025: 4, 2024: 12, 2023: 8, 2022: 10, 2021: 8Per-year citation counts (last 5 years)
- References (count)
-
85Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.indicate | 219 |
| abstract_inverted_index.multiple | 11 |
| abstract_inverted_index.mutation | 90 |
| abstract_inverted_index.neonatal | 16 |
| abstract_inverted_index.nonsense | 89 |
| abstract_inverted_index.proteins | 67, 123 |
| abstract_inverted_index.response | 210 |
| abstract_inverted_index.studies, | 49 |
| abstract_inverted_index.Amaurosis | 37 |
| abstract_inverted_index.Mutations | 0 |
| abstract_inverted_index.determine | 157 |
| abstract_inverted_index.disorders | 23 |
| abstract_inverted_index.modifiers | 72, 234 |
| abstract_inverted_index.mutations | 53, 160 |
| abstract_inverted_index.organisms | 45 |
| abstract_inverted_index.retinitis | 40 |
| abstract_inverted_index.rhodopsin | 117, 124 |
| abstract_inverted_index.undergoes | 101 |
| abstract_inverted_index.zebrafish | 83, 179, 239 |
| abstract_inverted_index.Congenital | 36 |
| abstract_inverted_index.components | 58 |
| abstract_inverted_index.exacerbate | 166 |
| abstract_inverted_index.increased. | 155 |
| abstract_inverted_index.influences | 247 |
| abstract_inverted_index.prenylated | 122 |
| abstract_inverted_index.scoliosis, | 99 |
| abstract_inverted_index.transducin | 130 |
| abstract_inverted_index.transition | 61 |
| abstract_inverted_index.zebrafish. | 251 |
| abstract_inverted_index.(p.Q1217*). | 91 |
| abstract_inverted_index.Centrosomal | 4 |
| abstract_inverted_index.accelerated | 194 |
| abstract_inverted_index.optokinetic | 209 |
| abstract_inverted_index.performance | 207 |
| abstract_inverted_index.pigmentosa. | 41 |
| abstract_inverted_index.pleiotropy. | 79 |
| abstract_inverted_index.progenitors | 147 |
| abstract_inverted_index.progressive | 104, 244 |
| abstract_inverted_index.Bardet-Biedl | 29 |
| abstract_inverted_index.ciliopathies | 12 |
| abstract_inverted_index.degeneration | 135, 237, 246 |
| abstract_inverted_index.heterozygous | 159 |
| abstract_inverted_index.investigated | 81 |
| abstract_inverted_index.nonsyndromic | 32 |
| abstract_inverted_index.regeneration | 248 |
| abstract_inverted_index.Meckel-Gruber | 19 |
| abstract_inverted_index.Surprisingly, | 133 |
| abstract_inverted_index.degeneration, | 168, 196 |
| abstract_inverted_index.degeneration. | 106 |
| abstract_inverted_index.photoreceptor | 134, 195, 236, 245 |
| abstract_inverted_index.proliferation | 139, 144 |
| abstract_inverted_index.significantly | 154 |
| abstract_inverted_index.transmembrane | 115 |
| abstract_inverted_index.fertilization. | 216 |
| abstract_inverted_index.multi-systemic | 22 |
| abstract_inverted_index.mislocalization | 112 |
| abstract_inverted_index.cilia-associated | 66 |
| abstract_inverted_index.cep290fh297/fh297 | 84, 108, 171, 182, 222 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 96 |
| corresponding_author_ids | https://openalex.org/A5053173780, https://openalex.org/A5008117018, https://openalex.org/A5010988253, https://openalex.org/A5023295346, https://openalex.org/A5101956811, https://openalex.org/A5015560922, https://openalex.org/A5086606392 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 7 |
| corresponding_institution_ids | https://openalex.org/I1316902750, https://openalex.org/I36373038, https://openalex.org/I4210158593, https://openalex.org/I58956616 |
| citation_normalized_percentile.value | 0.95738108 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |