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PMID:15316081

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Citation

van de Pavert, SA, Kantardzhieva, A, Malysheva, A, Meuleman, J, Versteeg, I, Levelt, C, Klooster, J, Geiger, S, Seeliger, MW, Rashbass, P, Le Bivic, A and Wijnholds, J (2004) Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. J. Cell. Sci. 117:4169-77

Abstract

Loss of Crumbs homologue 1 (CRB1) function causes either the eye disease Leber congenital amaurosis or progressive retinitis pigmentosa, depending on the amount of residual CRB1 activity and the genetic background. Crb1 localizes specifically to the sub-apical region adjacent to the adherens junction complex at the outer limiting membrane in the retina. We show that it is associated here with multiple PDZ protein 1 (Mupp1), protein associated with Lin-7 (Pals1 or Mpp5) and Mpp4. We have produced Crb1(-/-) mice completely lacking any functional Crb1. Although the retinas are initially normal, by 3-9 months the Crb1(-/-) retinas develop localized lesions where the integrity of the outer limiting membrane is lost and giant half rosettes are formed. After delamination of the photoreceptor layer, neuronal cell death occurs in the inner and outer nuclear layers of the retina. On moderate exposure to light for 3 days at 3 months of age, the number of severe focal retinal lesions significantly increases in the Crb1(-/-) retina. Crb2, Crb3 and Crb1 interacting proteins remain localized to the sub-apical region and therefore are not sufficient to maintain cell adhesion during light exposure in Crb1(-/-) retinas. Thus we propose that during light exposure Crb1 is essential to maintain, but not assemble, adherens junctions between photoreceptors and Müller glia cells and prevents retinal disorganization and dystrophy. Hence, light may be an influential factor in the development of the corresponding human diseases.

Links

PubMed Online version:10.1242/jcs.01301

Keywords

Adherens Junctions/metabolism; Animals; Blindness/genetics; Blindness/metabolism; Carrier Proteins/genetics; Carrier Proteins/metabolism; Cell Adhesion/physiology; Cell Adhesion/radiation effects; Cell Communication/physiology; Cell Communication/radiation effects; Cell Membrane/metabolism; Cell Polarity/physiology; Cell Polarity/radiation effects; Humans; Light; Membrane Proteins/metabolism; Mice; Mice, Inbred C57BL; Mice, Knockout; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Neuroglia/cytology; Neuroglia/metabolism; Photic Stimulation; Photoreceptor Cells, Vertebrate/cytology; Photoreceptor Cells, Vertebrate/physiology; Photoreceptor Cells, Vertebrate/radiation effects; Retinal Degeneration/genetics; Retinal Degeneration/metabolism; Retinitis Pigmentosa/genetics; Retinitis Pigmentosa/metabolism

Significance

Annotations

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

MOUSE:MPDZ

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q8VHS2
PR:Q9JLB2

F

Seeded From UniProt

complete

MOUSE:CRUM1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q8VBX6

F

Seeded From UniProt

complete

MOUSE:CRUM1

located_in

GO:0005912: adherens junction

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:CRUM1

located_in

GO:0001750: photoreceptor outer segment

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:CRUM1

acts_upstream_of_or_within

GO:0007601: visual perception

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:CRUM1

acts_upstream_of_or_within

GO:0007009: plasma membrane organization

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3052072

P

  • occurs_in:(EMAPA:35742)

Seeded From UniProt

complete

MOUSE:CRUM1

located_in

GO:0043296: apical junction complex

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:CRUM1

acts_upstream_of_or_within

GO:0061159: establishment of bipolar cell polarity involved in cell morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:CRUM1

acts_upstream_of_or_within

GO:0060060: post-embryonic retina morphogenesis in camera-type eye

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:PALS1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q8VBX6

F

Seeded From UniProt

complete


See also

References

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