Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): A novel candidate for retinal degenerations

European Journal of Human Genetics

Volumn 11, Issue 2, 2003, Pages 155-162

  Conte, Ivan ^a,b   Lestingi, Marta ^a   den Hollander, Anneke ^c   Alfano, Giovanna ^a   Ziviello, Carmela ^a   Pugliese, Mariarosaria ^a   Circolo, Diego ^a   Caccioppoli, Cristina ^a   Ciccodicola, Alfredo ^a,b   Banfi, Sandro ^a  

^a CNR   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

DC domain; Retinitis pigmentosa; RP1; RP1L1

Indexed keywords

AMINO ACID; DOUBLECORTIN; GENE PRODUCT;

AMINO TERMINAL SEQUENCE; ARTICLE; CONTROLLED STUDY; EMBRYO; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC CONSERVATION; GENETIC IDENTIFICATION; HUMAN; INCIDENCE; MICROTUBULE; MOUSE; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PERINATAL PERIOD; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PUFFER FISH; RETINA DEGENERATION; RETINA DISEASE; RETINITIS PIGMENTOSA; RETINOPATHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; VERTEBRATE;

AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ANIMALS; EYE PROTEINS; GENE EXPRESSION PROFILING; MICE; MOLECULAR SEQUENCE DATA; ORGAN SPECIFICITY; RETINA; RETINAL DEGENERATION; SEQUENCE ANALYSIS, PROTEIN; TAKIFUGU;

MAMMALIA; TAKIFUGU; TAKIFUGU RUBRIPES; TETRAODONTIDAE; VERTEBRATA;

EID: 0037300298     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200942     Document Type: Article

References (23)

1. Pierce EA, Quinn T, Meehan T, McGee TL et al: Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet 1999; 22: 248-254.
2. Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J et al: Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet 1999; 22: 255-259.
3. Gleeson JG, Lin PT, Flanagan LA, Walsh CA: Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron 1999; 23: 257-271.
4. Horesh D, Sapir T, Francis F, Wolf SG et al: Doublecortin, a stabilizer of microtubules. Hum Mol Genet 1999; 8: 1599-1610.
5. Liu Q, Zhou J, Daiger SP, Farber DB et al: Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci 2002; 43: 22-32.
6. Gao J, Cheon K, Nusinowitz S, Liu Q et al: Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci USA 2002; 99: 5698-5703.
7. den Hollander A, van Driel MA, de Kok YJ, van de Pol DJ et al: Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization. Genomics 1999; 58: 240-249.
8. Borsani G, Tonlorenzi R, Simmler MC, Dandolo L et al: Characterization of a murine gene expressed from the inactive X chromosome. Nature 1991; 351: 325-329.
9. Swindell EC, Thaller C, Sockanathan S et al: Complementary domains of retinoic acid production and degradation in the early chick embryo. Dev Biol 1999; 216: 282-296.
10. Altschul SF, Madden TL, Schaffer AA et al: Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 1997; 25: 3389-3402.
11. Bateman A, Birney E, Cerruti L et al: The Pfam protein families database. Nucleic Acids Res 2002; 30: 276-280.
12. Schultz J, Copley RR, Doerks T, Ponting CP, Bork P: SMART: a web-based tool for the study of genetically mobile domains. Nucleic Acids Res 2000; 28: 231-234.
13. Lupas A, Van Dyke M, Stock J: Predicting coiled coils from protein sequences. Science 1991; 252: 1162-1164.
14. Kozak M: Structural features in eukaryotic mRNAs that modulate the initiation of translation. J Biol Chem 1991; 266: 19867-19870, Review.
15. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ: Basic local alignment search tool. J Mol Biol 1990; 15: 403-410.
16. Vervoort R, Dry K, Lennon A, Bird AC, Tulloch B et al: Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 2000; 25: 462-466.
17. Meindl A, Dry K, Herrmann K, Manson F et al: A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996; 13: 35-42.
18. Aparicio S, Chapman J, Stupka E et al: Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science 2002; 297: 1301-1310.
19. Makalowski W, Zhang J, Boguski MS: Comparative analysis of 1196 orthologous mouse and human full-length mRNA and protein sequences. Genome Res 1996; 6: 846-857.
20. Gleeson JG, Allen KM, Fox JW, Lamperti ED et al: Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998; 92: 63-72.
21. Francis F, Koulakoff A, Boucher D, Chafey P et al: Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons. Neuron 1999; 23: 247-256.
22. Lin PT, Gleeson JG, Corbo JC, Flanagan L, Walsh CA: DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization. J Neurosci 2000; 20: 9152-9161.
23. Hong DH, Yue G, Adamian M, Li T: Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem 2001; 276: 12091-12099.