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

• 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).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• Heckenlively, J.R. Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa. Br. J. Ophthalmol. 66, 26–30 (1982).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• von Heijne, G. Signal sequences. The limits of variation. J. Mol. Biol. 184, 99–105 (1985).
  Article CAS Google Scholar
• Doolittle, R.F., Feng, D.F. & Johnson, M.S. Computer-based characterization of epidermal growth factor precursor. Nature 307, 558–560 (1984).
  Article CAS Google Scholar
• Rothberg, J.M. & Artavanis-Tsakonas, S. Characterization of a conserved carboxy-terminal sequence in secreted proteins and a motif implicated in extracellular protein interactions. J. Mol. Biol. 227, 367–370 (1992).
  Article CAS Google Scholar
• Sasaki, M., Kleinman, H.K., Huber, H., Deutzmann, R. & Yamada, Y. Laminin, a multidomain protein. J. Biol. Chem. 263, 16536–16544 (1988).
  CAS PubMed Google Scholar
• Drickamer, K. Two distinct classes of carbohydrate-recognition domains in animal lectins. J. Biol. Chem. 263, 9557–9560 (1988).
  CAS PubMed Google Scholar
• 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).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• Batzer, M.A. et al. Standardized nomenclature for Alu repeats. J. Mol. Evol. 42, 3–6 (1996).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• Appella, E., Weber, I.T. & Blasi, F. Structure and function of epidermal growth factor-like regions in proteins. FEBS Lett. 231, 1–4 (1988).
  Article CAS Google Scholar
• Knust, E. et al. EGF homologous sequences encoded in the genome of Drosophila melanogaster, and their relation to neurogenic genes. EMBO J. 6, 761–766 (1987).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• Nakayama, M. et al. Identification of high-molecular weight proteins with multiple EGF-like motifs by motif-trap screening. Genomics 51, 27–34 (1998).
  Article CAS Google Scholar
• Ushkaryov, Y.A., Petrenko, A.G., Geppert, M. & Südhof, T.C. Neurexins: synaptic cell surface proteins related to the →-latrotoxin receptor and laminin. Science 257, 50–56 (1992).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• Patthy, L. A family of laminin-related proteins controlling ectodermal differentiation in Drosophila. FEBS Lett. 298, 182–184 (1992).
  Article CAS Google Scholar
• Dryja, T.P. & Li, T. Molecular genetics of retinitis pigmentosa. Hum. Mol. Genet. 4, 1739–1743 (1995).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• Pearson, W.R. & Lipman, D.J. Improved tools for biological sequence comparison. Proc. Natl Acad. Sci. USA 85, 2444–2448 (1988).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• 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).
  Article CAS Google Scholar
• 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).
  CAS PubMed Google Scholar