Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa

Ophthalmic Research

Volumn 38, Issue 1, 2005, Pages 19-23

  Abd El Aziz, Mai M ^a,b   Patel, Reshma J ^a   El Ashry, Mohamed F ^a,b   Barragan, Isabel ^c   Marcos, Irene ^c   Borrego, Salud ^c   Antiñolo, Guillermo ^c   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b TANTA UNIVERSITY HOSPITAL   (Egypt)

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

Gene expression; Mutation screening; Retinitis pigmentosa

Indexed keywords

K HOMOLOGY DOMAIN CONTAINING RNA BINDING SIGNAL TRANSDUCTION ASSOCIATED 2 PROTEIN; OPIOID GROWTH FACTOR RECEPTOR LIKE 1 PROTEIN; PROTEIN; PROTEIN TYROSINE PHOSPHATASE IV A1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME MAP; CONTROLLED STUDY; FAMILY; GENE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENES, RECESSIVE; HUMANS; IMMEDIATE-EARLY PROTEINS; LINKAGE (GENETICS); MEMBRANE PROTEINS; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-TYROSINE-PHOSPHATASE; RETINITIS PIGMENTOSA; RNA-BINDING PROTEINS;

EID: 29144536174     PISSN: 00303747     EISSN: None     Source Type: Journal    
DOI: 10.1159/000088493     Document Type: Article

References (16)

1. Ruiz A, Borrego S, Marcos I, Antinolo G: A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet 1998;62:1452-1459.
2. Khaliq S, Hameed A, Ismail M, Mehdi SQ, Bessant DA, Payne AM, Bhattacharya SS: Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. Am J Hum Genet 1999;65:571-574.
3. Marcos I, Ruiz A, Blaschak CJ, Borrego S, Cutting GR, Antinolo G: Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa. J Med Genet 2000;37:E5.
4. Li Y, Marcos I, Borrego S, Yu Z, Zhang K, Antinolo G: Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. J Med Genet 2001;38:478-480.
5. Marcos I, Galan JJ, Borrego S, Antinolo G: Cloning, characterization, and chromosome mapping of the human GlcAT-S gene. J Hum Genet 2002;47:677-680.
6. Marcos I, Borrego S, Antinolo G: Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases. Int J Mol Med 2003;12:983-987.
7. Barragan I, Marcos I, Borrego S, Antiñolo G: Molecular analysis of RIMI in autosomal recessive retinitis pigmentosa. Ophthalmic Res 2005;37:89-93.
8. EL-Ashry MF, Abd El-Aziz MM, Hardcastle AJ, Bhattacharya SS, Ebenezer ND: A clinical and molecular genetic study of autosomal dominant stromal corneal dystrophy in British population. Ophthalmic Res 2005;37:310-317.
9. Wang L, Xu J, Zeng L, Ye X, Wu Q, Dai J, Ji C, Gu S, Zhao C, Xie Y, Mao Y: Cloning and characterization of a novel human STAR domain containing cDNA KHDRBS2. Mol Biol Rep 2002;29:369-375.
10. Peng Y, Genin A, Spinner NB, Diamond RH, Taub R: The gene encoding human nuclear protein tyrosine phosphatase, PRL-1: cloning, chromosomal localization, and identification of an intron enhancer. J Biol Chem 1998;273:17286-17295.
11. Zagon I, Verderame MF, McLaughlin J: The biology of the opioid growth factor receptor (OGFr). Brain Res Rev 2002;38:351-376.
12. Lee JS, Burr JG: Salpα and Salpβ, growth-arresting homologs of Sam68. Gene 1999;240:133-147.
13. Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D: Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet 2000;26:270-271.
14. Diamond RH, Cressman DE, Laz TM, Abrams CS, Taub R: PRL-1, a unique nuclear protein tyrosine phosphatase, affects cell growth. Cell Biol 1994;14:3752-3762.
15. Misteli T: RNA splicing: what has phosphorylation got to do with it? Curr Biol 1999;9:R198-R200.
16. Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi-Ariga SMM: PAP1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Exp Cell Res 2004;300:283-296.