RGD Reference Report - Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). - Rat Genome Database

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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

Authors: Den Hollander, AI  Ten Brink, JB  De Kok, YJ  Van Soest, S  Van den Born, LI  Van Driel, MA  Van de Pol, DJ  Payne, AM  Bhattacharya, SS  Kellner, U  Hoyng, CB  Westerveld, A  Brunner, HG  Bleeker-Wagemakers, EM  Deutman, AF  Heckenlively, JR  Cremers, FP  Bergen, AA 
Citation: den Hollander AI, etal., Nat Genet. 1999 Oct;23(2):217-21.
RGD ID: 1600966
Pubmed: PMID:10508521   (View Abstract at PubMed)
DOI: DOI:10.1038/13848   (Journal Full-text)

Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for chorioretinal diseases, we cloned cDNAs specifically or preferentially expressed in the human retina and the retinal pigment epithelium (RPE) through a novel suppression subtractive hybridization (SSH) method. One of these cDNAs (RET3C11) mapped to chromosome 1q31-q32.1, a region harbouring a gene involved in a severe form of autosomal recessive RP characterized by a typical preservation of the para-arteriolar RPE (RP12; ref. 3). The full-length cDNA encodes an extracellular protein with 19 EGF-like domains, 3 laminin A G-like domains and a C-type lectin domain. This protein is homologous to the Drosophila melanogaster protein crumbs (CRB), and denoted CRB1 (crumbs homologue 1). In ten unrelated RP patients with preserved para-arteriolar RPE, we identified a homozygous AluY insertion disrupting the ORF, five homozygous missense mutations and four compound heterozygous mutations in CRB1. The similarity to CRB suggests a role for CRB1 in cell-cell interaction and possibly in the maintenance of cell polarity in the retina. The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
retinitis pigmentosa susceptibilityIAGP 1600966DNA:missense mutationsRGD 
retinitis pigmentosa susceptibilityISOCRB1 (Homo sapiens)1600966; 1600966DNA:missense mutationsRGD 

Objects Annotated

Genes (Rattus norvegicus)
Crb1  (crumbs cell polarity complex component 1)

Genes (Mus musculus)
Crb1  (crumbs family member 1, photoreceptor morphogenesis associated)

Genes (Homo sapiens)
CRB1  (crumbs cell polarity complex component 1)


Additional Information