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

Nature Genetics

Volumn 23, Issue 2, 1999, Pages 217-221

  Den Hollander, Anneke I ^a   Ten Brink, Jacoline B ^b   De Kok, Yvette J M ^a   Van Soest, Simone ^b   Van Den Born, L Ingeborgh ^b,c   Van Driel, Marc A ^a   Van De Pol, Dorien J R ^a   Payne, Annette M ^d   Bhattacharya, Shomi S ^d   Kellner, Ulrich ^e   Hoyng, Carel B ^a   Westerveld, Andries ^f   Brunner, Han G ^a   Bleeker Wagemakers, Elisabeth M ^b   Deutman, August F ^a   Heckenlively, John R ^g   Cremers, Frans P M ^a   Bergen, Arthur A B ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^c ROTTERDAM EYE HOSPITAL   (Netherlands)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY OF AMSTERDAM   (Netherlands)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMININ; PROTEIN;

ARTICLE; CELL INTERACTION; CHROMOSOME MAP; DROSOPHILA MELANOGASTER; GENE MUTATION; HUMAN; HYBRIDIZATION; MOLECULAR CLONING; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY;

ALU ELEMENTS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; EYE PROTEINS; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TISSUE DISTRIBUTION;

DROSOPHILA MELANOGASTER; MELANOGASTER;

EID: 0032833350     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/13848     Document Type: Article

References (30)

1. den Hollander, A.I. et al. Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization. Genomics 58, 240-249 (1999).
2. Diatchenko, L. et al. Suppression subtractive hybridization: a method for generating differentially regulated or tissue-specific cDNA probes and libraries. Proc. Natl Acad. Sci. USA 93, 6025-6030 (1996).
3. van Soest, S. et al. Integrated genetic and physical map of the 1q31-q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes and the EEF1AL11 and RPL30 pseudogenes. Cytogenet. Cell Genet. 84, 22-27 (1999).
4. Heckenlively, J.R. Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa. Br. J. Ophthalmol. 66, 26-30 (1982).
5. van den Born, L.I. et al. Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium. Am. J. Ophthalmol. 118, 430-439 (1994).
6. von Heijne, G. Signal sequences. The limits of variation. J. Mol. Biol. 184, 99-105 (1985).
7. Doolittle, R.F., Feng, D.F. & Johnson, M.S. Computer-based characterization of epidermal growth factor precursor. Nature 307, 558-560 (1984).
8. Rothberg, J.M. & Artavanis-Tsakonas, S. Characterization of a conserved carboxyterminal sequence in secreted proteins and a motif implicated in extracellular protein interactions. J. Mol. Biol. 227, 367-370 (1992).
9. Sasaki, M., Kleinman, H.K., Huber, H., Deutzmann, R. & Yamada, Y. Laminin, a multidomain protein. J. Biol. Chem. 263, 16536-16544 (1988).
10. Drickamer, K. Two distinct classes of carbohydrate-recognition domains in animal lectins. J. Biol. Chem. 263, 9557-9560 (1988).
11. Tepass, U., Theres, C. & Knust, E. crumbs encodes an EGF-like protein expressed on apical membranes of Drosophila epithelial cells and required for organization of epithelia. Cell 61, 787-799 (1990).
12. Kere, J. et al. Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics 14, 241-248 (1992).
13. van Soest, S. et al. Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in a inbred and genetically heterogeneous disease population. Genomics 22, 499-504 (1994).
14. Batzer, M.A. et al. Standardized nomenclature for Alu repeats. J. Mol. Evol. 42, 3-6 (1996).
15. Vidaud, D. et al. Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene. Eur. J. Hum. Genet. 1, 30-36 (1993).
16. Shapiro, M.B. & Senapathy, P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15, 7155-7174 (1987).
17. Appella, E., Weber, I.T. & Blasi, F. Structure and function of epidermal growth factor-like regions in proteins. FEBS Lett. 231, 1-4 (1988).
18. Knust, E. et al. EGF homologous sequences encoded in the genome of Drosophila metanogaster, and their relation to neurogenic genes. EMBO J. 6, 761-766 (1987).
19. Wodarz, A., Hinz, U., Engelbert, M. & Knust, E. Expression of crumbs confers apical character on plasma membrane domains of ectodermal epithelia of Drosophila. Cell 82, 67-76 (1995).
20. Nakayama, M. et al. Identification of high-molecular weight proteins with multiple EGF-like motifs by motif-trap screening. Genomics 51, 27-34 (1998).
21. Ushkaryov, Y.A., Petrenko, A.C., Geppert, M. & Sūdhof, T.C. Neurexins: synaptic cell surface proteins related to the α-latrotoxin receptor and laminin. Science 257, 50-56 (1992).
22. Kallunki, P. & Tryggvason, K. Human basement membrane heparan sulfate proteoglycan core protein: a 467-kD protein containing multiple domains resembling elements of the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor. J. Cell Biol. 116, 559-571 (1992).
23. Joseph, D.R. & Baker, M.E. Sex hormone-binding globulin, androgen-binding protein, and vitamin K-dependent protein S are homologous to laminin A, merosin, and Drosophila crumbs protein FASEB J. 6, 2477-2481 (1992).
24. Patthy, L. A family of laminin-related proteins controlling ectodermal differentiation in Drosophila. FEBS Lett. 298, 182-184 (1992).
25. Dryja, T.P. & Li, T. Molecular genetics of retinitis pigmentosa. Hum. Mol. Genet. 4, 1739-1743 (1995).
26. van Soest, S., Westerveld, A., de Jong, P.T.V.M., Bleeker-Wagemakers, E.M. & Bergen, A.A.B. Retinitis pigmentosa: defined from a molecular point of view. Surv. Ophthalmol. 43, 321-334 (1999).
27. Pearson, W.R. & Lipman, D.J. Improved tools for biological sequence comparison. Proc. Natl Acad. Sci. USA 85, 2444-2448 (1988).
28. Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389-3402 (1997).
29. Dunn, K.C., Aotaki-Keen, A.E., Putkey, F.R. & Hjelmeland, L.M. ARPE-19, a human retinal pigment epithelial cell line with differentiated properties. Exp. Eye Res. 62, 155-169 (1996).
30. Davis, A.A. et al. A human retinal pigment epithelial cell line that retains epithelial characteristics after prolonged culture. Invest. Ophthalmol. Vis. Sci. 36, 955-964 (1995).