Human CCS gene: Genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

BMC Genetics

Volumn 3, Issue , 2002, Pages

  Silahtaroglu, Asli N ^a   Brondum Nielsen, Karen ^b   Gredal, Ole ^c   Werdelin, Lene ^c   Panas, Marios ^d   Petersen, Michael B ^e   Tommerup, Niels ^a   Tümer, Zeynep ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c BISPEBJERG HOSPITAL   (Denmark)

^d NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

^e AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; ALLELIC EXCLUSION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC ORGANIZATION; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN GENETICS; INTRON; MALE; NUCLEOTIDE SEQUENCE;

EID: 2942553035     PISSN: 14712156     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2156-3-5     Document Type: Article

References (23)

1. O'Halloran TV, Culotta VC: Metallochaperones, an intracellular shuttle service for metal ions. J Biol Chem 2000, 275:25057-60
2. Moore SDP, Chen MM, Cox DW: Cloning and mapping of murine superoxide dismutase copper chaperone (Ccsd) and mapping of the human ortholog. Cytogenet Cell Genet 2000, 88:35-37
3. Bartnikas TB, Waggoner DJ, Casareno RLB, Gaedigk R, White RA, Gitlin JD: Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase. Mammalian Genome 2000, 11:409-411
4. Eisses JF, Stasser JP, Ralle M, Kaplan JH, Blackburn NJ: Domains I and III of the human copper chaperone for superoxide dismutase interact via a cystein-bridged dicopper (I) cluster. Biochemistry 2000, 39:7337-7342
5. Casareno RLB, Waggoner D, Gitlin JD: The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase. J Biol Chem 1998, 273:23625-23628
6. Watanabe Y, Kuno N, Kono Y, Nanba E, Ohama E, Nakashima K, Takahashi K: Absence of the mutant SOD1 in familial amyotrophic lateral sclerosis (FALS) with two base pair deletion in the SOD1 gene. Acta Neurol Scand 1997, 95:167-72
7. Boukaftane Y, Khoris J, Moulard B, Salachas F, Meininger V, Malafosse A, Camu W, Rouleau GA: Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998, 25(3):192-6
8. Gestri D, Cecchi C, Tedde A, Latorraca S, Orlacchio A, Grassi E, Massaro AM, Liguri G, George-Hyslop PH, Sorbi S: Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis. Neurosci Lett 2000, 289(3):157-60
9. Shaw PJ: Genetic inroads in familial ALS. Nat Genet 2001, 29:103-104
10. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, et al: A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001, 29(2):166-173
11. Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, et al: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001, 29(2):160-5
12. Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brown Jr RH Jr, Meininger V, Camu W, Rouleau GA: A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet 2002, 70(1):251-6
13. Jones CT, Swingler RJ, Brock DJ: Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. Hum Mol Genet. 1994, 3(4):649-50
14. Jones CT, Swingler RJ, Simpson SA, Brock DJ: Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995, 32:290-292
15. Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, et al: Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord 2001, 11(4):404-10
16. Rothstein JD, Dykes-Hoberg M, Corson LB, Becker M, Cleveland DW, Price DL, Culotta VC, Wong PC: The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brain. J Neurochem 1999, 72(1):422-9
17. Rae TD, Schmidt PJ, Pufahl RA, Culotta VC, O'Halloran TV: Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase. Science 1999, 284:805-808
18. Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987, 15:7155-7174
19. Mount SM: A catalogue of splice junction sequences. Nucleic Acids Res 1982, 10:459-472
20. Irizarry K, Kustanovich V, Li C, Brown N, Nelson S, Wong W, Lee CJ: Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences. Nat Genet 2000, 26(2):233-236
21. Al-Chalabi A., Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF, Leigh PN: Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 1999, 8(2):157-164
22. Orlacchio A, Kawarai T, Massaro AM, St George-Hyslop PH, Sorbi S: Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees. Neurosci Lett 2000, 285(2):83-86
23. Subramaniam JR, Lyons WE, Liu J, Bartnikas TB, Rothstein J, Price DL, Cleveland DW, Gitlin JD, Wong PC: Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading. Nat Neurosci 2002, 5(4):301-7