Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog

Molecular Vision

Volumn 8, Issue , 2002, Pages 79-84

  Akhmedov, Novrouz B ^a   Baldwin, Victoria J ^b   Zangerl, Barbara ^b   Kijas, James W ^b   Hunter, Linda ^b   Minoofar, Katayoun D ^a   Mellersh, Cathryn ^c   Ostrander, Elaine A ^c   Acland, Gregory M ^b   Farber, Debora B ^a   Aguirre, Gustavo D ^b  

^a JULES STEIN EYE INSTITUTE   (United States)

^b Department of Obstetrics Gynecology   (United States)

^c Fred Hutchinson Cancer Research Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; HOMEODOMAIN PROTEIN; PRIMER DNA;

AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; CELL LINE; CONSENSUS SEQUENCE; CONTROLLED STUDY; DISEASE ASSOCIATION; DOG; EXON; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; HOMEOBOX; INHERITANCE; INTRON; MAMMAL; MEIOSIS; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; OPEN READING FRAME; PHOTORECEPTOR; RADIATION HYBRID MAPPING; RETINA DEGENERATION; SEQUENCE HOMOLOGY; SPECIES; SYNTENY;

AMINO ACID SEQUENCE; ANIMALS; CATTLE; CHROMOSOMES; CLONING, MOLECULAR; DNA PRIMERS; DNA, COMPLEMENTARY; DOGS; EXONS; GENE LIBRARY; HOMEODOMAIN PROTEINS; HUMANS; INTRONS; LINKAGE (GENETICS); MICE; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; PHOTORECEPTORS, VERTEBRATE; RADIATION HYBRID MAPPING; RATS; RETINAL DEGENERATION; SEQUENCE HOMOLOGY, AMINO ACID; TRANS-ACTIVATORS;

EID: 0347928918     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Furukawa T, Morrow EM, Cepko CL. Crx, a novel otx-like homeobox gene, shows photoreceptor specific expression and regulates photoreceptor differentiation. Cell 1997; 91:531-41.
2. Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron 1997; 19:1017-30.
3. Livesey FJ, Furukawa T, Steffen MA, Church GM, Cepko CL. Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx. Curr Biol 2000; 10:301-10.
4. Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. J Biol Chem 2000; 275:29794-9.
5. Chau KY, Munshi N, Keane-Myers A, Cheung-Chau KW, Tai AK, Manfioletti G, Dorey CK, Thanos D, Zack DJ, Ono SJ. The architectural transcription factor high mobility group I(Y) participates in photoreceptor specific gene expression. J Neurosci 2000; 20:7317-24.
6. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. Cone-rod dystrophy due to mutations in a novel photoreceptor specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997; 91:543-53.
7. Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 1997; 19:1329-936.
8. Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998; 18:311-2.
9. Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 1999; 8:299-305.
10. Silva E, Yang JM, Li Y, Dharmaraj S, Sundin OH, Maumenee IH. A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype. Invest Ophthalmol Vis Sci 2000; 41:2076-9.
11. Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet 1998; 63:1307-15.
12. Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci 1998; 39:2417-26.
13. Tzekov RT, Sohocki MM, Daiger SP, Birch DG. Visual phenotype in patients with Arg41Gln and Ala196+1bp mutations in the CRX gene. Ophthalmic Genet 2000; 21:89-99.
14. Sankila EM, Joensuu TH, Hamalainen RH, Raitanen N, Valle O, Ignatius J, Cormand B. A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy. Hum Mutat 2000; 16:94.
15. Tzekov RT, Liu Y, Sohocki MM, Zack DJ, Daiger SP, Heckenlively JR, Birch DG. Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene. Invest Ophthalmol Vis Sci 2001; 42:1319-27.
16. Millichamp NJ, Curtis R, Barnett KC. Progressive retinal atrophy in Tibetan terriers. J Am Vet Med Assoc 1988; 192:769-76.
17. Ray K, Acland GM, Aguirre GD. Nonallelism of erd and prcd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci. Invest Ophthalmol Vis Sci 1996; 37:783-94.
18. Aguirre GD, Rubin LF. Pathology of hemeralopia in the Alaskan malamute dog. Invest Ophthalmol 1974; 13:231-5.
19. Aguirre GD, Rubin LF. The electroretinogram in dogs with inherited cone degeneration. Invest Ophthalmol 1975; 14:840-7.
20. Gropp KE, Szel A, Huang JC, Acland GM, Farber DB, Aguirre GD. Selective absence of cone outer segment beta 3-transducin immunoreactivity in hereditary cone degeneration (cd). Exp Eye Res 1996; 63:285-96.
21. Santos-Anderson RM, Tso MO, Wolf ED. An inherited retinopathy in collies. A light and electron microscopic study. Invest Ophthalmol Vis Sci 1980; 19:1281-94.
22. Woodford BJ, Liu Y, Fletcher RT, Chader GJ, Farber DB, Santos-Anderson R, Tso MO. Cyclic nucleotide metabolism in inherited retinopathy in collies: a biochemical and histochemical study. Exp Eye Res 1982; 34:703-14.
23. Hubank M, Schatz DG. Identifying differences in mRNA expression by representational difference analysis of cDNA. Nucleic Acids Res 1994; 22:5640-8.
24. Lisitsyn N, Lisitsyn N, Wigler M. Cloning the differences between two complex genomes. Science 1993; 259:946-51.
25. Priat C, Hitte C, Vignaux F, Renier C, Jiang Z, Jouquand S, Cheron A, Andre C, Galibert F. A whole-genome radiation hybrid map of the dog genome. Genomics 1998; 54:361-78.
26. Mellersh CS, Hitte C, Richman M, Vignaux F, Priat C, Jouquand S, Werner P, Andre C, DeRose S, Patterson DF, Ostrander EA, Galibert F. An integrated linkage-radiation hybrid map of the canine genome. Mamm Genome 2000; 11:120-30.
27. Matise TC, Perlin M, Chakravarti A. Automated construction of genetic linkage maps using an expert system (Multimap): a human genome linkage map. Nat Genet 1994; 6:384-90.
28. Breen M, Jouquand S, Renier C, Mellersh CS, Hitte C, Holmes NG, Cheron A, Suter N, Vignaux F, Bristow AE, Priat C, McCann E, Andre C, Boundy S, Gitsham P, Thomas R, Bridge WL, Spriggs HF, Ryder EJ, Curson A, Sampson J, Ostrander EA, Binns MM, Galibert F. Chromosome-specific single-locus FISH probes allow anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes. Genome Res 2001; 11:1784-95.
29. Li R, Mignot E, Faraco J, Kadotani H, Cantanese J, Zhao B, Lin X, Hinton L, Ostrander EA, Patterson DF, de Jong PJ. Construction and characterization of an eightfold redundant dog genomic bacterial artificial chromosome library. Genomics 1999; 58:9-17.