Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis

Journal of Clinical Neuroscience

Volumn 18, Issue 9, 2011, Pages 1231-1234

  Pamphlett, Roger ^a   Morahan, Julia M ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Amyotrophic lateral sclerosis; Copy number; Microarray; Motor neuron disease; Somatic mutation; Twins

Indexed keywords

GENOMIC DNA;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BLOOD ANALYSIS; CHROMOSOME NUMBER; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA DETERMINATION; FEMALE; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENOME ANALYSIS; HAIR ANALYSIS; HUMAN; MALE; MONOZYGOTIC TWINS; PHENOTYPE; PRIORITY JOURNAL; SOMATIC MUTATION; TWIN DISCORDANCE;

ADULT; AGED; ALLELIC IMBALANCE; AMYOTROPHIC LATERAL SCLEROSIS; DNA COPY NUMBER VARIATIONS; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION PROFILING; HAIR; HUMANS; MALE; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SUPEROXIDE DISMUTASE; TWINS, MONOZYGOTIC;

EID: 79960983213     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2010.12.049     Document Type: Article

References (16)

1. Shaw PJ. Motor neurone disease. Br Med J 1999;318:1118-21.
2. Valdmanis PN, Daoud H, Dion PA, et al. Recent advances in the genetics of amyotrophic lateral sclerosis. Curr Neurol Neurosci Rep 2009;9:198-205.
3. Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006;52:103-21. (Pubitemid 44466365)
4. Blauw HM, Veldink JH, van Es MA, et al. Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol 2008;7:319-26.
5. Cronin S, Blauw HM, Veldink JH, et al. Analysis of genome-wide copy number variation in Irish and Dutch ALS populations. Hum Mol Genet 2008;17:3392-8.
6. Shoichet SA, Waibel S, Endruhn S, et al. Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotroph Lateral Scler 2009;10:162-9.
7. Wain LV, Pedroso I, Landers JE, et al. The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. PLoS ONE 2009;4:e8175.
8. Piotrowski A, Bruder CE, Andersson R, et al. Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 2008;29:1118-24.
9. Diskin SJ, Li M, Hou C, et al. Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res 2008;36:e126.
10. Graham AJ, Macdonald AM, Hawkes CH. British motor neuron disease twin study. J Neurol Neurosurg Psychiatry 1997;62:562-9.
11. Dellefave L, Bangash MA, Siddique T. Pairwise concordance rates are similar in monozygotic and dizygotic twins for amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2003;4(Suppl 1):47.
12. Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002;3:748-58.
13. Bruder CE, Piotrowski A, Gijsbers AA, et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008;82:763-71.
14. Chiang DY, Getz G, Jaffe DB, et al. High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods 2009;6:99-103.
15. Tan Q, Ohm Kyvik K, Kruse TA, et al. Dissecting complex phenotypes using the genomics of twins. Funct Integr Genomics 2010;10:321-7.
16. Baranzini SE, Mudge J, van Velkinburgh JC, et al. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 2010;464:1351-6.