GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

The American Journal of Human Genetics - Tập 71 - Trang 863-876 - 2002
Ilona Visapää1,2, Vineta Fellman3, Jouni Vesa1, Ayan Dasvarma4, Jenna L. Hutton5, Vijay Kumar6, Gregory S. Payne5, Marja Makarow6, Rudy Van Coster7, Robert W. Taylor8, Douglass M. Turnbull8, Anu Suomalainen9, Leena Peltonen1,2,10
1Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles
2Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Helsinki
3Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki
4Murdoch Children’s Research Institute, Melbourne, Australia
5Department of Biological Chemistry, University of California Los Angeles School of Medicine, Los Angeles
6Institute of Biotechnology, University of Helsinki, Helsinki
7Department of Pediatrics, Ghent University Hospital, Ghent, Belgium
8Department of Neurology, University of Newcastle upon Tyne, Newcastle, United Kingdom
9Department of Neurology and Programme of Neurosciences, University of Helsinki, Helsinki
10Department of Medical Genetics, University of Helsinki, Helsinki

Tài liệu tham khảo

Andersson, 1989, Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme, J Biol Chem, 264, 8222, 10.1016/S0021-9258(18)83172-6 Andreu, 1999, Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA, N Engl J Med, 341, 1037, 10.1056/NEJM199909303411404 Birch-Machin, 1989, Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain, Pediatr Res, 25, 553, 10.1203/00006450-198905000-00025 Cruciat, 1999, Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc1 complex, EMBO J, 18, 5226, 10.1093/emboj/18.19.5226 de Lonlay, 2001, A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure, Nat Genet, 29, 57, 10.1038/ng706 Fellman, 1998, Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria, Lancet, 351, 490, 10.1016/S0140-6736(97)09272-6 Fellman, 2002, Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant, Acta Obstet Gynecol Scand, 81, 398, 10.1034/j.1600-0412.2001.810504.x Fölsch, 1996, Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria, EMBO J, 15, 479, 10.1002/j.1460-2075.1996.tb00380.x Ito, 1983, Transformation of intact yeast cells treated with alkali cations, J Bacteriol, 153, 163, 10.1128/JB.153.1.163-168.1983 Keightley, 2000, Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene, Am J Hum Genet, 67, 1400, 10.1086/316900 Legros, 2001, Functional characterization of novel mutations in the human cytochrome b gene, Eur J Hum Genet, 9, 510, 10.1038/sj.ejhg.5200678 Majander, 1995, Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities, J Neurol Sci, 134, 95, 10.1016/0022-510X(95)00225-5 Marchler-Bauer, 2002, CDD: a database of conserved domain alignments with links to domain three-dimensional structure, Nucleic Acids Res, 30, 281, 10.1093/nar/30.1.281 Mitsuhashi, 2000, MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis, J Biol Chem, 275, 17536, 10.1074/jbc.275.23.17536 Morris, 1995, Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain, Pediatr Nephrol, 9, 407, 10.1007/BF00866711 Mount, 1982, A catalogue of splice junction sequences, Nucleic Acids Res, 10, 459, 10.1093/nar/10.2.459 Muhlenhoff, 2000, Biogenesis of iron-sulfur proteins in eukaryotes: a novel task of mitochondria that is inherited from bacteria, Biochim Biophys Acta, 1459, 370, 10.1016/S0005-2728(00)00174-2 Nobrega, 1992, BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae, EMBO J, 11, 3821, 10.1002/j.1460-2075.1992.tb05474.x Norio, 1973, Hereditary diseases in Finland: rare flora in rare soil, Ann Clin Res, 5, 109 Papadopoulou, 1999, Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene, Nat Genet, 23, 333, 10.1038/15513 Pastinen, 2001, Dissecting a population genome for targeted screening of disease mutations, Hum Mol Genet, 10, 2961, 10.1093/hmg/10.26.2961 Peltonen, 1999, Molecular genetics of the Finnish disease heritage, Hum Mol Genet, 8, 1913, 10.1093/hmg/8.10.1913 Petruzzella, 1998, Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain, Genomics, 54, 494, 10.1006/geno.1998.5580 Pitkänen, 1996, Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase, J Clin Invest, 98, 345, 10.1172/JCI118798 Rapola, 2002, Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE), Pediatr Pathol Mol Med, 21, 183, 10.1080/15227950252852087 Rustin, 1994, Biochemical and molecular investigations in respiratory chain deficiencies, Clin Chim Acta, 228, 35, 10.1016/0009-8981(94)90055-8 Sikorski, 1989, A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae, Genetics, 122, 19, 10.1093/genetics/122.1.19 Syvänen, 1993, Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing, Am J Hum Genet, 52, 46 Wibrand, 2001, Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene, Ann Neurol, 50, 540, 10.1002/ana.1224 Visapää, 2002, ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis, Am J Med Genet, 109, 202, 10.1002/ajmg.10331 Visapää, 1998, Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37, Am J Hum Genet, 63, 1396, 10.1086/302123