Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

REFERENCES

• Sadun F, De Negri A M, Carelli V, et al. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol. 2004; 137: 271–277
   PubMed Web of Science ®Google Scholar
• Newman N J, Lott M T, Wallace D C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991; 111: 750–762
   PubMed Web of Science ®Google Scholar
• Riordan-Eva P, Sanders M D, Govan G G, et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319–337, (Pt 2)
   PubMed Web of Science ®Google Scholar
• Smith J L, Hoyt W F, Susac J O. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol. 1973; 90: 349–354
   PubMed Web of Science ®Google Scholar
• Nikoskelainen E K, Huoponen K, Juvonen V, et al. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 1996; 103: 504–514
   PubMed Web of Science ®Google Scholar
• Stone E M, Newman N J, Miller N R, et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol. 1992; 12: 10–14
   PubMedGoogle Scholar
• Wallace D C, Singh G, Lott M T, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988; 242: 1427–1430
   PubMed Web of Science ®Google Scholar
• Huoponen K, Vilkki J, Aula P, Nikoskelainen E K, Savontaus M-L. A new mtdna mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1991; 48: 1147–1153
   PubMed Web of Science ®Google Scholar
• Johns D R, Smith K H, Miller N R. Leber's hereditary optic neuropathy: Clinical manifestations of the 3460 mutation. Arch Ophthalmol. 1992; 110: 1577–1581
   PubMedGoogle Scholar
• Mackey D A, Oostra R, Rosenberg T, et al. Primary Pathogenic MtDNA Mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J. Hum Genet 1996; 59: 481–485
   PubMed Web of Science ®Google Scholar
• Howell N, Mackey D A. Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet. 1998; 63: 1220–1224
   PubMed Web of Science ®Google Scholar
• Puomila A, Hamalainen P, Kivioja S, et al. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet. 2007; 15: 1079–1089
   PubMed Web of Science ®Google Scholar
• Carelli V, Giordano C, d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet. 2003; 19: 257–262
   PubMed Web of Science ®Google Scholar
• Kerrison J B, Miller N R, Hsu F, et al. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol. 2000; 130: 803–812
   PubMed Web of Science ®Google Scholar
• Sadun A A, Carelli V, Salomao S R, et al. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 2003; 136: 231–238
   PubMed Web of Science ®Google Scholar
• Mackey D A, Fingert J H, Luzhansky J Z, et al. Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus. Eye. 2003; 17: 312–317
   PubMed Web of Science ®Google Scholar
• Warner R B, Lee A G. Leber hereditary optic neuropathy associated with use of ephedra alkaloids. Am J Ophthalmol. 2002; 134: 918–920
   PubMed Web of Science ®Google Scholar
• Carelli V, Franceschini F, Venturi S, et al. Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in Leber hereditary optic neuropathy?. Environ Health Perspect 2007; 115: 113–115
   PubMed Web of Science ®Google Scholar
• Bu X D, Rotter J I. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci U S A. 1991; 88: 8198–8202
   PubMed Web of Science ®Google Scholar
• Nakamura M, Fujiwara Y, Yamamoto M. The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees. Hum Genet. 1993; 91: 339–341
   PubMed Web of Science ®Google Scholar
• Chen J-D, Cox I, Denton M J. Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Hum Genet. 1989; 82: 203–207
   Google Scholar
• Carvalho M R, Muller B, Rotzer E, et al. Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7. Hum Hered. 1992; 42: 316–320
   Google Scholar
• Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus M L. Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON). Am J Hum Genet. 1993; 53: 289–292
   Google Scholar
• Chalmers R M, Davis M B, Sweeney M G, Wood N W, Harding A E. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am J Hum Genet. 1996; 59: 103–108
   PubMed Web of Science ®Google Scholar
• Hudson G, Keers S, Yu Wai Man P, et al. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet. 2005; 77: 1086–1091
   PubMed Web of Science ®Google Scholar
• Carelli V, Achilli A, Valentino M L, et al. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet. 2006; 78: 564–574
   PubMed Web of Science ®Google Scholar
• Carelli V, Wang K, Valentino M L, Shankar S P, Salomao S S, Belford R, Sadun A A, Stone E M. Segregation analysis of a large LHON pedigree is consistent with the existence of a nuclear modifying gene. Invest. Ophthalmol Vis Sci 2003; 937
   Google Scholar
• Stone E M, Mathers W D, Rosenwasser G O, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994; 6: 47–51
   PubMed Web of Science ®Google Scholar
• Bassam B J, Caetano-Anolles G, Gresshoff P M. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem. 1991; 196: 80–83
   PubMed Web of Science ®Google Scholar
• Kong A, Gudbjartsson D F, Sainz J, et al. A high-resolution recombination map of the human genome. Nat Genet. 2002; 31: 241–247
   PubMed Web of Science ®Google Scholar
• Karolchik D, Baertsch R, Diekhans M, et al. The UCSC Genome Browser database. Nucl. Acids Res. 2003; 31: 51–54
   PubMed Web of Science ®Google Scholar
• Lathrop G M, Lalouel J M, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA. 1984; 81: 3443–3446
   PubMed Web of Science ®Google Scholar
• Kruglyak L, Daly M J, Reeve-Daly M P, Lander E S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996; 58: 1347–1363
   PubMed Web of Science ®Google Scholar
• Horvath S, Laird N M, Knapp M. The transmission/disequilibrium test and parental-genotype reconstruction for X-chromosomal markers. Am J Hum Genet. 2000; 66: 1161–1167
   Google Scholar
• Chen Y T, Rettig W J, Yenamandra A K, et al. Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse. Proc Natl Acad Sci USA. 1990; 87: 3077–3081
   PubMed Web of Science ®Google Scholar
• Inoue M, Takahashi K, Niide O, et al. LDOC1, a novel MZF-1-interacting protein, induces apoptosis. FEBS Lett. 2005; 579: 604–608
   PubMed Web of Science ®Google Scholar
• Nagasaki K, Schem C, von Kaisenberg C, et al. Leucine-zipper protein, LDOC1, inhibits NF-kappaB activation and sensitizes pancreatic cancer cells to apoptosis. Int J Cancer 2003; 105: 454–458
   Google Scholar