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PMID:21738648

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Citation

Patil, SB, Hurd, TW, Ghosh, AK, Murga-Zamalloa, CA and Khanna, H (2011) Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. PLoS ONE 6:e21379

Abstract

Genetic mutations are frequently associated with diverse phenotypic consequences, which limits the interpretation of the consequence of a variation in patients. Mutations in the retinitis pigmentosa 2 (RP2) gene are associated with X-linked RP, which is a phenotypically heterogenic form of retinal degeneration. The purpose of this study was to assess the functional consequence of disease-associated mutations in the RP2 gene using an in vivo assay. Morpholino-mediated depletion of rp2 in zebrafish resulted in perturbations in photoreceptor development and microphthalmia (small eye). Ultrastructural and immunofluorescence analyses revealed defective photoreceptor outer segment development and lack of expression of photoreceptor-specific proteins. The retinopathy phenotype could be rescued by expressing the wild-type human RP2 protein. Notably, the tested RP2 mutants exhibited variable degrees of rescue of rod versus cone photoreceptor development as well as microphthalmia. Our results suggest that RP2 plays a key role in photoreceptor development and maintenance in zebrafish and that the clinical heterogeneity associated with RP2 mutations may, in part, result from its potentially distinct functional relevance in rod versus cone photoreceptors.

Links

PubMed PMC3124502 Online version:10.1371/journal.pone.0021379

Keywords

Animals; Eye Proteins/genetics; Eye Proteins/metabolism; Fluorescent Antibody Technique; Microphthalmos/genetics; Microphthalmos/metabolism; Morpholinos; Mutation, Missense/genetics; Zebrafish/genetics; Zebrafish/metabolism; Zebrafish Proteins/genetics; Zebrafish Proteins/metabolism

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

DANRE:XRP2

involved_in

GO:0042461: photoreceptor cell development

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110725-3

P

Seeded From UniProt

complete

DANRE:XRP2

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110725-3

P

Seeded From UniProt

complete

DANRE:F1QC45

involved_in

GO:0042461: photoreceptor cell development

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110725-3

P

Seeded From UniProt

complete

DANRE:F1QC45

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110725-3

P

Seeded From UniProt

complete


See also

References

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