Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

American Journal of Human Genetics

Volumn 82, Issue 3, 2008, Pages 763-771

  Bruder, Carl E G ^a   Piotrowski, Arkadiusz ^a   Gijsbers, Antoinet A C J ^b,c   Andersson, Robin ^d   Erickson, Stephen ^e   Diaz de Ståhl, Teresita ^f   Menzel, Uwe ^f   Sandgren, Johanna ^g   von Tell, Desiree ^a   Poplawski, Andrzej ^a   Crowley, Michael ^a   Crasto, Chiquito ^a   Partridge, E Christopher ^a   Tiwari, Hemant ^e   Allison, David B ^a,e   Komorowski, Jan ^d   van Ommen, Gert Jan B ^b,c   Boomsma, Dorret I ^h   Pedersen, Nancy L ⁱ   den Dunnen, Johan T ^b,c   Wirdefeldt, Karin ⁱ   Dumanski, Jan P ^a,f   more..

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Centre for Medical Systems Biology   (Netherlands)

^d UPPSALA UNIVERSITY   (Sweden)

^e UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^f UPPSALA UNIVERSITY   (Sweden)

^g UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^h VU UNIVERSITY AMSTERDAM   (Netherlands)

ⁱ KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CAUSAL ATTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; DEMENTIA; DIFFUSE LEWY BODY DISEASE; DISEASE PREDISPOSITION; FEMALE; GENE LOCUS; GENE NUMBER; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; HUMAN; MALE; MONOZYGOTIC TWINS; MOSAICISM; NERVE DEGENERATION; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; TWIN DISCORDANCE; CHEMISTRY; COMPARATIVE STUDY; DEGENERATIVE DISEASE; DNA MICROARRAY; GENETICS; HUMAN CHROMOSOME; TWINS;

DNA;

CHROMOSOMES, HUMAN; DNA; FEMALE; HUMANS; MALE; NEURODEGENERATIVE DISEASES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; TWINS, MONOZYGOTIC; VARIATION (GENETICS);

EID: 40849109768     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.12.011     Document Type: Article

References (34)

1. Busjahn A., and Hur Y.M. Twin registries: An ongoing success story. Twin Res. Hum. Genet. 9 (2006) 705
2. Machin G.A. Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am. J. Med. Genet. 61 (1996) 216-228
3. Gringras P., and Chen W. Mechanisms for differences in monozygous twins. Early Hum. Dev. 64 (2001) 105-117
4. Fraga M.F., Ballestar E., Paz M.F., Ropero S., Setien F., Ballestar M.L., Heine-Suner D., Cigudosa J.C., Urioste M., Benitez J., et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc. Natl. Acad. Sci. USA 102 (2005) 10604-10609
5. Petronis A. Epigenetics and twins: Three variations on the theme. Trends Genet. 22 (2006) 347-350
6. Gratacos M., Nadal M., Martin-Santos R., Pujana M.A., Gago J., Peral B., Armengol L., Ponsa I., Miro R., Bulbena A., et al. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell 106 (2001) 367-379
7. Youssoufian H., and Pyeritz R.E. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 3 (2002) 748-758
8. Erickson R.P. Somatic gene mutation and human disease other than cancer. Mutat. Res. 543 (2003) 125-136
9. Gollob M.H., Jones D.L., Krahn A.D., Danis L., Gong X.Q., Shao Q., Liu X., Veinot J.P., Tang A.S., Stewart A.F., et al. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N. Engl. J. Med. 354 (2006) 2677-2688
10. Flores M., Morales L., Gonzaga-Jauregui C., Dominguez-Vidana R., Zepeda C., Yanez O., Gutierrez M., Lemus T., Valle D., Avila M.C., et al. Recurrent DNA inversion rearrangements in the human genome. Proc. Natl. Acad. Sci. USA 104 (2007) 6099-6106
11. Sebat J., Lakshmi B., Troge J., Alexander J., Young J., Lundin P., Maner S., Massa H., Walker M., Chi M., et al. Large-scale copy number polymorphism in the human genome. Science 305 (2004) 525-528
12. Iafrate A.J., Feuk L., Rivera M.N., Listewnik M.L., Donahoe P.K., Qi Y., Scherer S.W., and Lee C. Detection of large-scale variation in the human genome. Nat. Genet. 36 (2004) 949-951
13. Sebat J. Major changes in our DNA lead to major changes in our thinking. Nat. Genet. 39 (2007) s3-s5
14. Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W., et al. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
15. Korbel J.O., Urban A.E., Affourtit J.P., Godwin B., Grubert F., Simons J.F., Kim P.M., Palejev D., Carriero N.J., Du L., et al. Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome. Science 318 (2007) 420-426
16. Buckley P.G., Mantripragada K.K., Benetkiewicz M., Tapia-Páez I., Diaz de Ståhl T., Rosenquist M., Ali H., Jarbo C., de Bustos C., Hirvelä C., et al. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum. Mol. Genet. 11 (2002) 3221-3229
17. Ishkanian A.S., Malloff C.A., Watson S.K., DeLeeuw R.J., Chi B., Coe B.P., Snijders A., Albertson D.G., Pinkel D., Marra M.A., et al. A tiling resolution DNA microarray with complete coverage of the human genome. Nat. Genet. 36 (2004) 299-303
18. Wong K.K., deLeeuw R.J., Dosanjh N.S., Kimm L.R., Cheng Z., Horsman D.E., MacAulay C., Ng R.T., Brown C.J., Eichler E.E., et al. A comprehensive analysis of common copy-number variations in the human genome. Am. J. Hum. Genet. 80 (2007) 91-104
19. Diaz de Ståhl T., Sandgren J., Piotrowski A., Nord H., Andersson R., Menzel U., Bogdan A., Thuresson A.-C., Poplawski A., von Tell D., et al. Profiling of copy number variations (CNVs) in healthy individuals in three ethnic groups using a human genome 32K BAC-clone-based array. Hum. Mutat. (2007) in press
20. Ameur A., Yankovski V., Enroth S., Spjuth O., and Komorowski J. The LCB Data Warehouse. Bioinformatics 22 (2006) 1024-1026
21. R Development Core Team. R: A Language and Environment for Statistical Computing (2006), R Foundation for Statistical Computing, Vienna, Austria
22. Peiffer D.A., Le J.M., Steemers F.J., Chang W., Jenniges T., Garcia F., Haden K., Li J., Shaw C.A., Belmont J., et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 16 (2006) 1136-1148
23. Lichtenstein P., De Faire U., Floderus B., Svartengren M., Svedberg P., and Pedersen N.L. The Swedish Twin Registry: A unique resource for clinical, epidemiological and genetic studies. J. Intern. Med. 252 (2002) 184-205
24. Wirdefeldt K., Gatz M., Bakaysa S., Fiske A., Flensburg M., Petzinger G., Widner H., Lew M., Welsh M., and Pedersen N. Complete ascertainment of Parkinson disease in the Swedish Twin Registry. Neurobiol. Aging (2007) in press
25. Boomsma D.I., de Geus E.J., Vink J.M., Stubbe J.H., Distel M.A., Hottenga J.J., Posthuma D., van Beijsterveldt T.C., Hudziak J.J., Bartels M., et al. Netherlands Twin Register: From twins to twin families. Twin Res. Hum. Genet. 9 (2006) 849-857
26. Elbaz A., Nelson L.M., Payami H., Ioannidis J.P., Fiske B.K., Annesi G., Carmine Belin A., Factor S.A., Ferrarese C., Hadjigeorgiou G.M., et al. Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: A large-scale international study. Lancet Neurol. 5 (2006) 917-923
27. Mantripragada K.K., Buckley P.G., Jarbo C., Menzel U., and Dumanski J.P. Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection. J. Mol. Med. 81 (2003) 443-451
28. Mantripragada K.K., Thuresson A.C., Piotrowski A., Diaz de Stahl T., Menzel U., Grigelionis G., Ferner R.E., Griffiths S., Bolund L., Mautner V., et al. Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J. Med. Genet. 43 (2006) 28-38
29. de Bustos C., Diaz de Stahl T., Piotrowski A., Mantripragada K.K., Buckley P.G., Darai E., Hansson C.M., Grigelionis G., Menzel U., and Dumanski J.P. Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. Genomics 88 (2006) 152-162
30. Summersgill B., Thornton P., Atkinson S., Matutes E., Shipley J., Catovsky D., Houlston R.S., and Yuille M.R. Chromosomal imbalances in familial chronic lymphocytic leukaemia: A comparative genomic hybridisation analysis. Leukemia 16 (2002) 1229-1232
31. Ripolles L., Ortega M., Ortuno F., Gonzalez A., Losada J., Ojanguren J., Soler J.A., Bergua J., Coll M.D., and Caballin M.R. Genetic abnormalities and clinical outcome in chronic lymphocytic leukemia. Cancer Genet. Cytogenet. 171 (2006) 57-64
32. Helderman-van den Enden A.T., Ginjaar H.B., Kneppers A.L., Bakker E., Breuning M.H., and de Visser M. Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. Neuromuscul. Disord. 13 (2003) 317-321
33. van Ommen G.J. Frequency of new copy number variation in humans. Nat. Genet. 37 (2005) 333-334
34. Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., Yamrom B., Yoon S., Krasnitz A., Kendall J., et al. Strong association of de novo copy number mutations with autism. Science 316 (2007) 445-449