A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1

Human Genetics

Volumn 119, Issue 6, 2006, Pages 617-623

  Zhao, Chen ^a,b   Lu, Shasha ^a,c   Zhou, Xiaolei ^a   Zhang, Xiumei ^d   Zhao, Kanxing ^b   Larsson, Catharina ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b TIANJIN MEDICAL UNIVERSITY   (China)

^c THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

^d The Health School of Jiaozuo   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CYCLIC NUCLEOTIDE GATED CHANNEL A3; HNK 1 SULFOTRANSFERASE; PROTEIN MERTK; SEMAPHORIN; SEMAPHORIN 4C; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME MAP; CLINICAL ARTICLE; CLINICAL FEATURE; DNA FLANKING REGION; FEMALE; GENE LOCATION; GENE LOCUS; GENETIC LINKAGE; GENETIC MARKER; GENETIC SCREENING; HUMAN; MALE; MEIOSIS; MITOTIC RECOMBINATION; OPHTHALMOSCOPY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; GENES, DOMINANT; GENETIC MARKERS; HAPLOTYPES; HUMANS; MICROSATELLITE REPEATS; PEDIGREE; RETINITIS PIGMENTOSA;

EID: 33744465573     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0168-3     Document Type: Article

References (16)

1. Abid A, Ismail M, Mehdi SQ, Khaliq S (2005) Identification of a novel mutations in SEMA4A gene associated with retinal degenerative diseases. J Med Genet 30: Epub ahead of print
2. Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Bernd Wissinger B, Inglehearn CF (2002) Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. Eur J Hum Genet 10:865-869
3. Gal A, Li Y, Thompson DA Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D (2000) Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet 26:270-271
4. Heckenlively JR, Yoser SL, Friedman LH, Oversier JJ (1988) Clinical findings and common symptoms in retinitis pigmentosa. Am J Ophthalmol 105:504-511
5. Inagaki S, Furuyama T, Iwahashi Y (1995) Identification of a member of mouse semaphorin family. FEBS Lett 370:269-272
6. Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B (1998) Total colour blindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 19:257-259
7. Michaelides M, Bloch-Zupan A, Holder GE, Hunt DM, Moore AT (2004) An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. J Med Genet 41:468-473
8. Mitsumoto Y, Oka S, Sakuma H, Inazawa J, Kawasaki T (2000) Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope. Genomics 65:166-173
9. Ong E, Yeh JC, Ding Y, Hindsgaul O, Pedersen LC, negishi M, Fukuda M (1999) Structure and function of HNK-1 sulfotransferase: Identification of donor and acceptor binding sites by site-directed mutagenesis. J Biol Chem 274:25608-25612
10. Papaioannou M, Chakarova CF, Prescott DQ, Waseem N, Theis T, Lopez I, Gill B, Koenekoop RK, Bhattacharya SS (2005) A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. Hum Genet 28:1-3
11. Rice DS, Huang W, Jones HA, Hansen G, Ye GL, Xu N, Wilson EA, Troughton K, Vaddi K, Newton RC, Zambrowicz BP, Sands AT (2004) Severe retinal degeneration associated with disruption of semaphorin 4A. Invest Ophthalmol Vis Sci 45:2767-2777
12. Uusitalo M, Schlotzer-Schrehardt U, Kivela T (2003) Ultrastructural localization of the HNK-1 carbohydrate epitope to glial and neuronal cells of the human retina. Invest Ophthal Vis Sci 44:961-964
13. Vithana EN, Abu-Safieh L, Allen MJ (2001) A human homology of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 8:375-381
14. Wang Q, Chen Q, Zhao K, Wang L, Wang L, Traboulsi EI (2001) Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet 22:133-154
15. Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 69:722-737
16. Wissinger B, Jagle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT (1998) Human rod monochromacy: Linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics 51:325-331 325-331