{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T02:07:35Z","timestamp":1779156455158,"version":"3.51.4"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genet"],"DOI":"10.1186\/1471-2156-4-8","type":"journal-article","created":{"date-parts":[[2003,5,29]],"date-time":"2003-05-29T06:20:41Z","timestamp":1054189241000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus"],"prefix":"10.1186","volume":"4","author":[{"given":"C\u00e9cile","family":"Delettre","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Lenaers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Belenguer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian P","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2003,5,7]]},"reference":[{"issue":"suppl 54","key":"57_CR1","first-page":"1","volume":"37","author":"P Kjer","year":"1959","unstructured":"Kjer P: Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Scand. 1959, 37 (suppl 54): 1-146.","journal-title":"Acta Ophthalmol Scand"},{"key":"57_CR2","volume-title":"University of Waterloo Pres Waterloo Ontario","author":"WM Lyle","year":"1990","unstructured":"Lyle WM: Genetic risks. University of Waterloo Pres Waterloo Ontario. 1990"},{"key":"57_CR3","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/j.1600-0420.1996.tb00672.x","volume":"74","author":"B Kjer","year":"1996","unstructured":"Kjer B, Eiberg H, Kjer P, Rosenberg T: Dominant optic atrophy mapped to chromosome 3q region II Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996, 74: 3-7.","journal-title":"Acta Ophthalmol Scand"},{"key":"57_CR4","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1016\/0002-9394(79)90565-8","volume":"88","author":"PB Johnston","year":"1979","unstructured":"Johnston PB, Gaster RN, Smith VC, Tripathi RC: A clinicopathological study of autosomal dominant optic atrophy. Am J Ophthalmol. 1979, 88: 668-675.","journal-title":"Am J Ophthalmol"},{"key":"57_CR5","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1111\/j.1755-3768.1983.tb01424.x","volume":"61","author":"P Kjer","year":"1983","unstructured":"Kjer P, Jensen OA, Klinken L: Histopathology of eye optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol. 1983, 61: 300-312.","journal-title":"Acta Ophthalmol"},{"key":"57_CR6","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1159\/000310202","volume":"202","author":"V Elenius","year":"1991","unstructured":"Elenius V: Rod thresholds in dominantly inherited juvenile optic atrophy. Ophtalmologica. 1991, 202: 208-212.","journal-title":"Ophtalmologica"},{"key":"57_CR7","first-page":"1998","volume":"95","author":"GE Holder","year":"1999","unstructured":"Holder GE, Votruba M, Carter AC, Bhattacharya SS, Fitzke FW, Moore AT: Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. Doc Ophthalmol. 1999, 95: 1998-217.","journal-title":"Doc Ophthalmol"},{"key":"57_CR8","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1093\/hmg\/3.6.977","volume":"3","author":"H Eiberg","year":"1994","unstructured":"Eiberg H, Kjer B, Kjer P, Rosenberg T: Dominant optic atrophy (OPA1) mapped to chromosome 3q region 1. Linkage analysis. Hum Mol Genet. 1994, 3: 977-980.","journal-title":"Hum Mol Genet"},{"key":"57_CR9","first-page":"968","volume":"57","author":"A Lunkes","year":"1995","unstructured":"Lunkes A, Hartung U, Magarino C, Rodriguez M, Palmero A, Rodriguez L, Heredero L, Weissenbach J, Weber J, Auburger G: Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2\u20138 cM in one Cuban pedigree with autosomal dominant optic atrophy type Kjer. Am J Hum Genet. 1995, 57: 968-970.","journal-title":"Am J Hum Genet"},{"key":"57_CR10","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1136\/jmg.32.12.951","volume":"32","author":"D Bonneau","year":"1995","unstructured":"Bonneau D, Souied E, Gerber S, Rozet JM, D'Haens E, Journel H, Plessis G, Weissenbach J, Munnich A, Kaplan J: No evidence of genetic heterogeneity in dominant optic atrophy. J Clin Genet. 1995, 32: 951-953.","journal-title":"J Clin Genet"},{"key":"57_CR11","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1001\/archopht.1997.01100150102017","volume":"115","author":"RL Johnston","year":"1997","unstructured":"Johnston RL, Burdon MA, Spalton DJ, Bryant SP, Behnam JT, Seller MJ: Dominant optic atrophy Kjer type Linkage analysis and clinical features in a large British pedigree. Arch Ophthalmol. 1997, 115: 100-103.","journal-title":"Arch Ophthalmol"},{"key":"57_CR12","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1136\/jmg.34.2.117","volume":"34","author":"M Votruba","year":"1997","unstructured":"Votruba M, Moore AT, Bhattacharya SS: Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. J Med Genet. 1997, 34: 117-121.","journal-title":"J Med Genet"},{"key":"57_CR13","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1001\/archopht.1997.01100150097016","volume":"115","author":"J Brown Jr","year":"1997","unstructured":"Brown J, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM: Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol. 1997, 115: 95-99.","journal-title":"Arch Ophthalmol"},{"key":"57_CR14","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1007\/s004390050657","volume":"102","author":"M Votruba","year":"1998","unstructured":"Votruba M, Moore AT, Bhattacharya SS: Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees. Hum Genet. 1998, 102: 79-86. 10.1007\/s004390050657.","journal-title":"Hum Genet"},{"key":"57_CR15","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/79936","volume":"26","author":"C Delettre","year":"2000","unstructured":"Delettre C, Lenaers G, Griffoin J-M, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel C: Nuclear gene OPA1 encoding a mitochondrial dynamin-related protein is mutated in dominant optic atrophy. Nature Genet. 2000, 26: 207-210. 10.1038\/79936.","journal-title":"Nature Genet"},{"key":"57_CR16","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/79944","volume":"26","author":"C Alexander","year":"2000","unstructured":"Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B: OPA1 encoding a dynamin-related GTPase is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature Genet. 2000, 26: 211-215. 10.1038\/79944.","journal-title":"Nature Genet"},{"key":"57_CR17","doi-asserted-by":"publisher","first-page":"1359","DOI":"10.1093\/hmg\/10.13.1359","volume":"10","author":"UE Pesch","year":"2001","unstructured":"Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedr-Sylla E, Zrenner E, Alexander C, Wissinger B: OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet. 2001, 10: 1359-1368. 10.1093\/hmg\/10.13.1359.","journal-title":"Hum Mol Genet"},{"key":"57_CR18","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1007\/s00439-001-0633-y","volume":"109","author":"C Delettre","year":"2001","unstructured":"Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel C: Mutation spectrum and splicing variants in the OPA1. Hum Genet. 2001, 109: 584-591. 10.1007\/s00439-001-0633-y.","journal-title":"Hum Genet"},{"key":"57_CR19","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.1093\/hmg\/10.13.1369","volume":"10","author":"C Toomes","year":"2001","unstructured":"Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob R, Bennet CP, Vize CJ, Desai SP, Black GCM, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ: Spectrum frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet. 2001, 10: 1369-1378. 10.1093\/hmg\/10.13.1369.","journal-title":"Hum Mol Genet"},{"key":"57_CR20","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1007\/s004390100600","volume":"109","author":"DL Thiselton","year":"2001","unstructured":"Thiselton DL, Alexander C, Morris A, Broooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M: A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Hum Genet. 2001, 109: 498-502. 10.1007\/s004390100600.","journal-title":"Hum Genet"},{"key":"57_CR21","first-page":"1715","volume":"43","author":"DL Thiselton","year":"2002","unstructured":"Thiselton DL, Alexander C, Taanman J-W, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M: A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci. 2002, 43: 1715-1724.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"57_CR22","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1001\/archopht.117.6.805","volume":"117","author":"JB Kerrison","year":"1999","unstructured":"Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH: Genetic heterogeneity of dominant optic atrophy Kjer type: identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol. 1999, 117: 805-810.","journal-title":"Arch Ophthalmol"},{"key":"57_CR23","first-page":"40","volume":"56","author":"JL Southard","year":"1977","unstructured":"Southard JL, Eicher EM: Bst. Mouse News Lett. 1977, 56: 40-","journal-title":"Mouse News Lett"},{"key":"57_CR24","first-page":"51","volume":"19","author":"DS Rice","year":"1993","unstructured":"Rice DS, Williams RW, Davisson MT, Harris BS, Goldowitz D: A new mutant phenotype of retinal ganglion cell dysgenesis discovered in the mouse. Soc Neurosc Abs. 1993, 19: 51-","journal-title":"Soc Neurosc Abs"},{"key":"57_CR25","first-page":"2112","volume":"38","author":"DS Rice","year":"1997","unstructured":"Rice DS, Tang Q, Williams RW, Harris BS, Davisson MT, Goldowitz D: Decreased retinal ganglion cell number and misdirected axon growth associated with fissure defects in Bst\/+ mutant mice. Invest Ophthalmol Vis Sci. 1997, 38: 2112-2124.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"57_CR26","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1007\/BF00377965","volume":"23","author":"R Epstein","year":"1986","unstructured":"Epstein R, Davisson M, Lehmann K, Akeson EC, Cohn M: Position of Igl-1 md and Bst loci on chromosome 16 of the mouse. Immunogenetics. 1986, 23: 78-83.","journal-title":"Immunogenetics"},{"key":"57_CR27","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1007\/BF00356174","volume":"6","author":"DS Rice","year":"1995","unstructured":"Rice DS, Williams RW, Ward-Bailey P, Johnson KR, Harris BS, Davisson MT, Goldowitz D: Mapping the Bst mutation on mouse chromosome 16: a model for human optic atrophy. Mamm Genome. 1995, 6: 546-548.","journal-title":"Mamm Genome"},{"key":"57_CR28","first-page":"S229","volume":"5 Spec No","author":"RH Reeves","year":"1994","unstructured":"Reeves RH, Citron MP: Mamm Genome. 1994, 5 Spec No: S229-37.","journal-title":"Mamm Genome"},{"key":"57_CR29","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1007\/s00439-001-0645-7","volume":"110","author":"T Aung","year":"2002","unstructured":"Aung T, Ocaka L, Ebenezer ND, Morris AG, Krawczak KM, Thiselton DL, Alexander A, Votruba M, Brice G, Child AH, Hitchings RA, Lehmann OJ, Bhattacharya SS: A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet. 2002, 110: 52-6. 10.1007\/s00439-001-0645-7.","journal-title":"Hum Genet"},{"key":"57_CR30","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1101\/gr.GR-1640R","volume":"11","author":"Y Suzuki","year":"2001","unstructured":"Suzuki Y, Tsunoda T, Sese J, Taira H, Mizushima-Sugano J, Hata H, Ota T, Isogai T, Tanaka T, Nakamura Y, Suyama A, Sakaki Y, Morishita S, Okubo K, Sugano S.: Identification and characterization of the potential promoter regions of 1031 kinds of human genes. Genome Res. 2001, 11: 677-684. 10.1101\/gr.GR-1640R.","journal-title":"Genome Res"},{"key":"57_CR31","doi-asserted-by":"publisher","first-page":"2191","DOI":"10.1073\/pnas.040531597","volume":"97","author":"RS Smith","year":"2000","unstructured":"Smith RS, John SW, Zabeleta A, Davisson MT, Hawes NL, Chang B: The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization. Proc Natl Acad Sci U S A. 2000, 97: 2191-2195. 10.1073\/pnas.040531597.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"57_CR32","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.1086\/324651","volume":"69","author":"Y Anikster","year":"2001","unstructured":"Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O: Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001, 69: 1218-1224. 10.1086\/324651.","journal-title":"Am J Hum Genet"},{"key":"57_CR33","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1101\/gad.873001","volume":"15","author":"MD Fleming","year":"2001","unstructured":"Fleming MD, Campagna DR, Haslett JN, Trenor CC, Andrews NC: A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f\/f) mice. Genes Dev. 2001, 15: 652-657. 10.1101\/gad.873001.","journal-title":"Genes Dev"},{"key":"57_CR34","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1101\/gr.7.12.1153","volume":"7","author":"LC McCarthy","year":"1997","unstructured":"McCarthy LC, Terrett J, Davis ME, Knights CJ, Smith AL, Critcher R, Schmitt K, Hudson J, Spurr NK, Goodfellow PN: A first-generation whole genome-radiation hybrid map spanning the mouse genome. Genome Res. 1997, 7: 1153-1161.","journal-title":"Genome Res"},{"key":"57_CR35","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1111\/j.1574-6968.1999.tb13575.x","volume":"174","author":"TA Tatusova","year":"1999","unstructured":"Tatusova TA, Madden TL: Blast 2 sequences \u2013 a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett. 1999, 174: 247-250. 10.1016\/S0378-1097(99)00149-4.","journal-title":"FEMS Microbiol Lett"}],"container-title":["BMC Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2156-4-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T15:17:20Z","timestamp":1726240640000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgenet.biomedcentral.com\/articles\/10.1186\/1471-2156-4-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,7]]},"references-count":35,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2003,12]]}},"alternative-id":["57"],"URL":"https:\/\/doi.org\/10.1186\/1471-2156-4-8","relation":{},"ISSN":["1471-2156"],"issn-type":[{"value":"1471-2156","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,7]]},"assertion":[{"value":"9 February 2003","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 May 2003","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 May 2003","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"8"}}