SNP haplotype mapping in a small ALS family

PLoS ONE

Volumn 4, Issue 5, 2009, Pages

  Krueger, Katherine A Dick ^a   Tsuji, Shoji ^b   Fukuda, Yoko ^b   Takahashi, Yuji ^b   Goto, Jun ^b   Mitsui, Jun ^b   Ishiura, Hiroyuki ^b   Dalton, Joline C ^a   Miller, Michael B ^a   Day, John W ^a   Ranum, Laura P W ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ACCURACY; AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL CELL; ARTICLE; CHROMOSOME 1; CHROMOSOME 13; CHROMOSOME 15; CHROMOSOME 16; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DIPLOIDY; DNA RECOMBINATION; FAMILY STUDY; GENE MAPPING; GENOME ANALYSIS; HAPLOIDY; HAPLOTYPE; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; NONHUMAN; PEDIGREE ANALYSIS; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; CELL LINE; CHROMOSOMES, HUMAN, PAIR 1; DNA; FAMILY; FEMALE; GENETIC MARKERS; HAPLOIDY; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MICE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE NUCLEOTIDE; STATISTICS, NONPARAMETRIC;

EID: 67650573032     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0005687     Document Type: Article

References (27)

1. Antonarakis SE, Beckmann JS (2006) Mendelian disorders deserve more attention. Nat Rev Genet 7: 277-282.
2. Ropers HH (2007) New perspectives for the elucidation of genetic disorders. Am J Hum Genet 81: 199-207.
3. Ervasti JM (2007) Dystrophin, its interactions with other proteins, and implications for muscular dystrophy. Biochim Biophys Acta 1772: 108-117.
4. Rustgi AK (2007) The genetics of hereditary colon cancer. Genes Dev 21: 2525-2538.
5. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), (May 6th, 2008). Available: http:// www.ncbi.nlm.nih.gov/omim/.
6. Berger MM, Kopp N, Vital C, Redl B, Aymard M, et al. (2000) Detection and cellular localization of enterovirus RNA sequences in spinal cord of patients with ALS. Neurology 54: 20-25.
7. Cleveland DW (1999) From Charcot to SOD1: mechanisms of selective motor neuron death in ALS. Neuron 24: 515-520.
8. Julien JP (2001) Amyotrophic lateral sclerosis. unfolding the toxicity of the misfolded. Cell 104: 581-591.
9. Pasinelli P, Brown RH (2006) Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci 7: 710-723.
10. Ton C, Hirvonen H, Miwa H, Weil M, Monaghan P, et al. (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from aniridia region. Cell 67: 1059-1074.
11. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62.
12. Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, et al. (1997) Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol 42: 803-807.
13. Shaw CE, Enayat ZE, Chioza BA, Al-Chalabi A, Radunovic A, et al. (1998) Mutations in all five exons of SOD-1 may cause ALS. Ann Neurol 43: 390-394.
14. Battistini S, Giannini F, Greco G, Bibbo G, Ferrera L, et al. (2005) SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. J Neurol 252: 782-788.
15. Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, et al. (2004) A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 75: 822-831.
16. Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, et al. (2004) A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. J Med Genet 41: 315-320.
17. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668-1672.
18. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, et al. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208-1211.
19. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, et al. (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323: 1205-1208.
20. Papadopoulos N, Leach FS, Kinzler KW, Vogelstein B (1995) Monoallelic mutation analysis (MAMA) for identifying germline mutations. Nat Genet 11: 99-102.
21. O'Connell JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 11: 402-408.
22. Gudbjartsson DF, Thorvaldsson T, Kong A, Gunnarsson G, Ingolfsdottir A (2005) Allegro version 2. Nat Genet 37: 1015-1016.
23. Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, et al. (2006) A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 66: 839-844.
24. Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, et al. (2006) Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 129: 868-876.
25. Yan J, Siddique N, Slifer S, Bigio E, Mao H, et al. (2006) in Late Breaking Science: 58th Annual Meeting of the American Academy of Neurology, San Diego, CA.
26. Yan H, Papadopoulos N, Marra G, Perrera C, Jiricny J, et al. (2000) Conversion of diploidy to haploidy. Nature 403: 723-724.
27. Douglas JA, Boehnke M, Gillanders E, Trent JM, Gruber SB (2001) Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies. Nat Genet 28: 361-364.