Dominant optic atrophy: Exclusion and fine genetic mapping of the candidate gene, HRY

Mammalian Genome

Volumn 9, Issue 10, 1998, Pages 784-787

  Votruba, Marcela ^a,b   Payne, Annette ^a   Moore, Anthony T ^b   Bhattacharya, Shom S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 3Q; DNA POLYMORPHISM; GENE AMPLIFICATION; GENE MAPPING; GENE MUTATION; HUMAN; IN SITU HYBRIDIZATION; OPTIC NERVE ATROPHY; POLYMERASE CHAIN REACTION;

ANIMALS; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DINUCLEOTIDE REPEATS; DNA PRIMERS; DROSOPHILA; DROSOPHILA PROTEINS; EXONS; FEMALE; GENES, DOMINANT; GENES, INSECT; HAPLOTYPES; HUMANS; INSECT PROTEINS; MALE; MICROSATELLITE REPEATS; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; POLYMORPHISM, GENETIC; PROTEINS; REPRESSOR PROTEINS;

EID: 0031714454     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900867     Document Type: Article

References (22)

1. Bonneau D, Souied E, Gerber S, Rozet J-M, D'Haens E, Journel H, Plessis G, Weissenbach J, Munnich A, Kaplan J (1995) No evidence of genetic heterogeneity in dominant optic atrophy. J Med Genet 32, 951-953
2. Brown J, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM (1997) Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 115, 95-99
3. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152-154
4. Eiberg H, Kjer B, Kjer P, Rosenberg T (1994) Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet 3, 977-980
5. Elenius V, Leinonen M, Airas K (1991) Rod thresholds in dominantly inherited juvenile optic atrophy. Ophthalmologica 202, 208-212
6. Feer JN, Jan LY, Jan YN (1993) A rat gene with sequence homology to the Drosophila gene hairy is rapidly induced by growth factors known to influence neuronal differentiation. Mol Cell Biol 13, 105-113
7. Feer JN, Li L, Jan LY, Jan YN (1994) Genomic cloning and chromosomal localization of HRY, the human homolog to the Drosophila segmentation gene, hairy. Genomics 20, 56-61
8. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millaseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-94 Genethon human genetic linkage map. Nat Genet 7, 246-339
9. Ishibashi M, Ang SL, Shiota K, Nakanishi S, Kageyama R, Guillemont F (1995) Targeted disruption of mammalian hairy and enhancer of split Homolog-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects. Genes Dev 9, 3136-3148
10. Johnston PB, Caster RN, Smith VC, Tripathi RC (1979) A clinicopathological study of autosomal dominant optic atrophy. Am J Ophthalmol 88, 868-875
11. Johnston RL, Burdon MA, Spalton DJ, Bryant SP, Behnam JT, Seller MJ (1997) Dominant optic atrophy, Kjer type: linkage analysis and clinical features in a large British pedigree. Arch Ophthalmol 115, 100-103
12. Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T (1997) Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig. Hum Genet 99, 115-120
13. Keen TJ, Lester D, Inglehearn, Curtis A, Bhattacharya SS (1991) Rapid detection of single base mismatches as heteroduplexes on hydrolink gels. Trends Genet 7, 5
14. Kerrison JB, Arnould V, Barmada MM, Sallum J, Li YY, Zhu D, Vagefi MR, Mitchell T, Maumenee IH (1998) Autosomal dominant optic atrophy pedigree linked to chromosome 18q12.2-12.3. Invest Ophthalmol Vis Sci 39, 2338
15. Kjer P (1983) Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol (Copenh) 61, 300-312
16. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multipoint linkage analysis in humans. Proc Natl Acad Sci USA 81, 3443-3446
17. Lunkes A, Hartung U, Magarino C (1995) Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 centiMorgans in one Cuban family with autosomal dominant optic atrophy type Kjer. Am J Hum Genet 57, 968-970
18. Rushlow CA, Hogan A, Pinchin SM, Howe KM, Lardelli M, Ish-Horowicz D (1989) The Drosophila hairy protein acts in both segmentation and bristle patterning and shows homology to N-myc. EMBO J 8, 3095-3103
19. Stoilova D, Child A, Desai SP, Sarfarazi M (1997) Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28. Ophthal Genet 18, 1-6
20. Tomita K, Ishibashi M, Nakahara K, Ang S, Nakanishi S, Guillemont F, Kageyama R (1996) Mammalian hairy and enhancer of Split homolog-1 regulates differentiation of retinal neurons and is essential for eye morphogenesis. Neuron 16, 723-734
21. Votruba M, Moore AT, Bhattacharya SS (1997) Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. J Med Genet 34, 117-121
22. Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, Moore AT (1998) Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol 116, 351-358