Intercellular genomic (chromosomal) variations resulting in somatic mosaicism: Mechanisms and consequences

Current Genomics

Volumn 7, Issue 7, 2006, Pages 435-446

  Iourov, I Y ^a,b   Vorsanova, S G ^a,b   Yurov, Y B ^a,b  

^a MENTAL HEALTH RESEARCH CENTER   (Russian Federation)

^b PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

Author keywords

Aneuploidy; Flourecense in situ hybridization (FISH); Intercellular genomic variations; Intracellular genomic instability; Neuropsychiatric diseases; Polyploidy; Somatic chromosomal mosaicism (SCM)

Indexed keywords

ANEUPLOIDY; AUTOSOME; CELL CYCLE; CELL DIVISION; CENTROMERE; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CYTOGENETICS; DEGENERATIVE DISEASE; DNA SEQUENCE; EPIGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; FUNCTIONAL GENOMICS; GENE EXPRESSION PROFILING; GENETIC VARIABILITY; GENOMIC INSTABILITY; HUMAN; HUMAN GENOME; INCIDENCE; MENTAL DISEASE; MENTAL RETARDATION MALFORMATION SYNDROME; MITOSIS; POLYPLOIDY; PRIMED IN SITU LABELING; REVIEW; SPECTRAL KARYOTYPING; SUPERNUMERARY CHROMOSOME; TETRAPLOIDY; TRIPLOIDY;

EID: 33845646696     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/138920206779116756     Document Type: Review

References (102)

1. Sebat, J.; Lakshini, B.; Troge, J.; Alexander, J.; Young, J.; Lundin, P.; Maner, S.; Massa, H.; Walker, M.; Chi, M.; Navin, N.; Lucito, R.; Healy, J.; Hicks, J.; Ye, K.; Reiner, A.; Gilliam, T.C.; Trask, B.; Patterson, N.; Zetterberg, A. and Wigler, M. Large-scale copy number polymorphism in the human genome. Science 2004, 305(5683): 525-528.
2. 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. 2004, 36(9): 949-951.
3. Pineda-Krch, M. and Lehtila, K. Costs and benefits of genetic heterogeneity within organisms. J. Evol. Biol. 2004, 17(6): 1167-1117.
4. Tuzun, E.; Sharp, A.J.; Bailey, J.A.; Kaul, R.; Morrison, V.A.; Pertz, L.M.; Haugen, E.; Hayden, H.; Albertson, D.; Pinkel, D.; Olson, M.V. and Eichler, E.E. Fine-scale structural variation of the human genome. Nat. Genet. 2005, 37(7): 727-732.
5. Feuk, L.; Carson, A.R. and Scheirer S.W. Structural variation in the human genome. Nat. Rev. Genet. 2006, 7(2): 85-97.
6. Sharp, A.J.; Cheng, Z. and Eichler, E.E. Structural variation of the human genome. Annu. Rev. Genomics Hum. Genet. 2006, 7: 407-442.
7. Schinzel, A. Catalogue of Unbalanced Chromosome Aberrations in Man (Second Edition). Berlin, New York: de Gruyter, 2001.
8. Youssoufian, H. and Pyeritz R.E. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 2002, 3(10): 749-758.
9. Duesberg, P.; Fabarius, A., and Hehlmann, R. (2004). Aneuploidy, the primary cause of the multilateral genomic instability of neoplastic and preneoplastic cells. IUBMB Life 2004, 56(2): 65-81.
10. Rajagopalan, H. and Lengauer, C. Aneuploidy and cancer. Nature 2004, 432(7015): 338-341.
11. Geigl, J.B.; Langer, S.; Barwisch, S.; Pfleghaar, K.; Lederer, G. and Speicher, M.R. Analysis of gene expression patterns and chromosomal changes associated with aging. Cancer Res. 2004, 64(23): 8850-8557.
12. Iourov, I.Y.; Vorsanova, S.G. and Yurov, Y.B. Chromosomal variations in mammalian neuronal cells: known facts and attractive hypotheses. Int. Rev. Cytol. 2006, 249: 143-191.
13. Hassold, T. and Hunt, P. To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet. 2001, 2(4): 280-291.
14. Wolstenholme, J. Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat. Diagn. 1996, 16(6): 511-524.
15. Kalousek D.K. and Vekemans M. Confined placental mosaicism and genomic imprinting. Best Pract. Res. Clin. Obstet. Gynaecol. 2000, 14(4): 723-730.
16. Brinkley, B.R. Managing the centrosomes numbers game: from chaos to stability in cancer cell division. Trends Cell Biol. 2001, 11(1): 18-21.
17. Kirsch-Volders, M.; Vanhauwaert, A.; De Brieck, M. and Decordier, I. Importance of detecting numerical versus structural chromosome aberrations. Mutat. Res. 2002, 504(1-2): 137-148.
18. Cleveland, D.W.; Mao, Y. and Sullivan, K.F. Centromeres and kinetochores: from epigenetics to mitotic checkpoint signaling. Cell 2003, 112(4): 407-421.
19. Cimini, D. and Degrassi, F. Aneuploidy: a matter of bad connections. Trends Cell Biol. 2005, 15(8): 442-451.
20. Kops, G.J.P.L.; Weaver, B.A.A. and Cleveland, D.W. On the road to cancer: aneuploidy and the mitotic checkpoint. Nat. Rev. Cancer 2005, 5(10): 773-785.
21. Canman, J.C.; Sharma, N.; Straight, A.; Shannon, K.B.; Fang, G. and Salmon, E.D. Anaphase onset does not require the microtubule-dependent depletion of kinetochore and centromere binding proteins. J. Cell. Sci. 2002, 115(19): 3787-3795.
22. Pidoux, A. and Allshire, R. Chromosome segregation: clamping down on deviant orientations. Curr. Biol. 2003, 13(10): R385-R387.
23. Salmon, E.D.; Cimini, D.; Cameron, L.A. and DeLuca, J.G. Merotelic kinetochores in mammalian tissue cells. Philos Trans. R. Soc. Lond. B Biol. Sci. 2005, 360(1455): 553-568.
24. Storchova, Z. and Pellman, D. From polyploidy to aneuploidy, genome instability and cancer. Nat. Rev. Mol. Cell Biol. 2004, 5(1):45-54.
25. Shi, Q. and King R.W. Chromosome nondisjunction yields tetraploid rather than aneuploid cells in human cell lines. Nature 2005, 437(7061): 1038-1042.
26. Doxsey, S.; Zimmermann, W. and Mikule, K. Centrosome control of the cell cycle. Trends Cell Biol. 2005, 15(6): 303-311.
27. Kearns, W.G. and Liu J.M. Cell cycle checkpoint genes and aneuploidy: a short review. Curr. Genomics 2001, 2: 171-180.
28. Muller, U.; Weber, J.L.; Berry, P. and Kupke, K.G. Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy. J. Med. Genet. 1993, 30(7): 597-600.
29. Hernandez, L.D.; Hoffman, L.R.; Wolfsberg, T.G. and White, J.M. Virus-cell and cell-cell fusion. Annu. Rev. Cell Dev. Biol. 1996, 12: 627-661.
30. Blau, H.M.; Brazelton, T.R. and Weimann, J.M. The evolving concept of a stem cell: entity or function? Cell 2001, 105(7): 829-841.
31. Taylor, M.V. Muscle differentiation: how two cells become one. Curr. Biol. 2002, 12(6): R224-R228.
32. Edgar, B.A. and Orr-Weaver, T.L. Endoreplication cell cycles: more for less. Cell 2001, 105(3): 297-306.
33. Stankiewicz, P. and Lupski, J.R. Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002, 18(2): 74-82.
34. Liehr, T.; Mrasek, K.; Weise, A.; Kuechler, A.; von Eggeling, F.; Claussen, U. and Starke, H. Characterisation of small supernumerary marker chromosomes (sSMC) in human. Curr. Genomics 2004, 5(3): 279-286.
35. Liehr, T.; Starke, H. and Claussen, U. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet. Genome Res. 2004, 107(1-2): 55-67.
36. Lengauer, C.; Kinzler, K.W. and Vogelstein, B. Genetic instabilities in human cancers. Nature 1998, 396(6712): 643-649.
37. Nowell, P.C. Genetic instability and tumor development. Basic Life Sci. 1991, 57: 221-231.
38. International HapMap Consortium. A haplotype map of the human genome. Nature 2005, 437(7063): 1299-1320.
39. Weber, J.L.; David, D.; Heil, J.; Fan, Y.; Zhao, C. and Marth G. Human diallelic insertion/deletion polymorphisms. Am. J. Hum. Genet. 2002, 71(4): 854-862.
40. Dib, C.; Faure, S.; Fizames, C.; Samson, D.; Drouot, N.; Vignal, A.; Millasseau, P.; Marc, S.; Hazan, J.; Seboun, E.; Lathrop, M.; Gyapay, G.; Morissette, J. and Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996, 380(6570): 152-154.
41. Deinenger, P.R. and Batzer M.A. Mammalian retroelements. Genome Res. 2002, 12(10): 1455-1465.
42. Bennett, E.A.; Coleman, L.E.; Tsui, C.; Pittard, W.S. and Devine, S.E. Natural genetic variation caused by transposable elements in humans. Genetics 2004, 168(2): 933-951.
43. Flint, J. and Knight, S. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr. Opin. Genet. Dev. 2003, 13(3): 310-316.
44. Bhasin, M.K. Human population cytogenetics: a review. Int. J. Hum Genet. 2005, 5(2): 83-152.
45. Kaiser-Rogers, K. and Rao, K. Structural chromosome rearrangements. In: Gersen S.L., Keagle M.B., editors. The Principles of Clinical Cytogenetics (Second Edition). Totowa. NJ. Humana Press 2005, p 165-206.
46. Wyandt, H.E. and Tonk V.S. Atlas of Human Chromosome Heteromorphisms. Dordrecht, Boston, London: Kluwer, 2004.
47. Arlt, M.F.; Casper, A.M. and Glover T.W. Common fragile sites. Cytogenet. Genome Res. 2003, 100(1-4): 92-100.
48. Sutherland G.R. Rare fragile sites. Cytogenet. Genome Res. 2003, 100(1-4): 77-84.
49. Hirschhorn, R. In vivo reversion to normal of inherited mutations in humans. J. Med. Genet. 2003, 40(10): 721-728.
50. Ostertag, E.M. and Kazazian Jr, H.H. Biology of mammalian L1 retrotransposons. Annu. Rev. Genet. 2001, 35: 501-538.
51. Aplan, P.D. Causes of oncogenic chromosomal translocation. Trends Genet. 2006, 22(1): 46-55.
52. Griffin, D.K. The incidence, origin and etiology of aneuploidy. Int. Rev. Cytol. 1996, 167: 263-296.
53. Pellestor, F.; Andreo, B.; Arnal, F.; Humeau, C. and Demaille, J. Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized oocytes. Hum. Genet. 2003, 112(2): 195-203.
54. Bielanska, M.; Tan, S.L. and Ao, A. Chromosomal mosaicism throughout preimplantation development in vitro: incidence, type, and relevance to embryo outcome. Hum. Reprod. 2002, 17(2): 413-419.
55. Vorsanova, S.G.; Kolotii, A.D.; Iourov, I.Y.; Monakhov, V.V.; Kirillova, E.A.; Soloviev, I.V. and Yurov, Y.B. Evidence for high frequency of chromosomal mosaicism in spontaneous abortions revealed by interphase FISH analysis. J. Histochem. Cytochem. 2005, 53(3): 375-380.
56. Stetten, G.; Escallon, C.S.; South, S.T.; McMichael, J.L.; Saul, D.O., and Blakemore, K.J. Reevaluating confined placental mosaicism. Am. J. Med. Genet. A 2004, 131(3): 232-239.
57. Yurov, Y.B. and Vorsanova, S.G. Molecular cytogenetic investigations of chromosomal abnormalities and disorders in nervous and mental diseases: search for biological markers of diagnosis. Vest. Ross. Acad. Med. Nauk. 2001, 7: 26-31. (in Russian)
58. Los, F.J.; Van Opstal, D. and van den Berg, C. The development of cytogenetically normal, abnormal and mosaic embryos: a theoretical model. Hum. Reprod. Update 2004, 10(1): 79-94.
59. Wojda, A. and Witt, M. Manifestations of ageing at the cytogenetic level. J. Appl. Genet. 2003, 44(3): 383-399.
60. Leach, N.T.; Rehder, D.; Jensen, K.; Holt, S. and Jackson-Cook C. Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy. Mech. Ageing Dev. 2004, 125(8): 563-573.
61. Wilkens, L.; Flemming, P.; Gebel, M.; Bleck J.; Terkamp, C.; Wingen, L.; Kreipe, H. and Schelgelberger, B. Induction of aneuploidy by increasing chromosomal instability during dedifferentiation of hepatocellular carcinoma. Proc. Natl. Acad. Sci. USA 2004, 101(5): 1309-1314.
62. Yurov, Y.B.; Vostrikov, V.M.; Vorsanova, S.G.; Monakhov, V.V. and Iourov, I.Y. Multicolor fluorescent in situ hybridization on post mortern brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases. Brain Dev. 2001, 23(S1): S186-S190.
63. Yurov, Y.B.; Iourov, I.Y.; Monakhov, V.V.; Soloviev, I.V.; Vostrikov, V.M. and Vorsanova, S.G. The variation of aneuploidy frequency in the developing and adult human brain revealed by an interphase FISH study. J. Histochem. Cytochem. 2005, 53(3): 385-390.
64. Iourov, I.Y.; Liehr, T.; Vorsanova, S.G.; Kolotii, A.D. and Yurov Y.B. Visualization of interphase chromosomes in postmitotic cells of the human brain by multicolour banding (MCB). Chromosome Res. 2006, 14(3): 223-229.
65. Fitzpatrick, D.R.; Ramsay, J.; McGill, N.I.; Shade, M.; Carothers, A.D. and Hastie, N.D. Transcriptome analysis of human autosomal trisomy. Hum. Mol. Genet. 2002, 11(26): 3249-3256.
66. Mao, R.; Zielke, C.L.; Zielke, H.R. and Pevsner J. Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. Genomics 2003, 81(5): 457-467.
67. Fitzpatrick, D.R. Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects. Trends Genet. 2005, 21(5): 249-253.
68. Chow, J.J.; Yen, Z.; Ziesche, S.M. and Brown, C.J. Silencing of the mammalian X chromosome. Annu. Rev. Genomics Hum. Genet. 2005, 6: 69-92.
69. Hughes, T.R.; Roberts, C.J.; Dai, H.; Jones, A.R.; Meyer, M.R.; Slade, D.; Burchard, J.; Dow, S.; Ward, T.R.; Kidd, M.J.; Friend S.H. and Marton, M.J. Widespread aneuploidy revealed by DNA microarray expression profiling. Nat. Genet. 2000, 25(3): 333-337.
70. Heim, S. and Mitelman, F. Cancer cytogenetics. (Second Edition) New York: Wiley Liss Inc., 1995.
71. Jacquemont, S.; Boceno, M.; Rival, J.M.; Mechinaud, F. and David, A. High risk of malignancy in mosaic variegated aneuploidy syndrome. Am. J. Med. Genet. 2002, 109(1): 17-21.
72. Kingsbury, M.A.; Yung, Y.C.; Peterson, S.E.; Westra, J.W. and Chun J. Aneuploidy in the normal and diseased brain Cell. Mol. Life Sci. 2006, doi: 10.1007/s00018-006-6169-5
73. Geller, L.N. and Potter, H. Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease. Neurobiol. Dis. 1999, 6(3): 167-179.
74. Bassett, A.S.; Chow, E.W.C. and Weksberg R. Chromosomal abnormalities in schizophrenia. Am. J. Med. Genet. (Semin. Med. Genet.) 2000, 97(1): 45-51.
75. Kaplan, M.M. and Bianchi D.W. Primary biliary cirrhosis: for want of an X chromosome. Lancet 2004,363(9408): 505-506.
76. Vorsanova, S.G.; Demidova, I.A.; Ulas, V.Y.; Soloviev, I.V.; Kazantseva, L.Z. and Yurov Y.B. Cytogenetic and molecular-cytogenetic investigation of Rett syndrome. Analysis of 31 cases. Neuroreport 1996, 8(1): 187-189.
77. Vorsanova, S.G.; Yurov, Y.B.; Ulas, V.Y.; Demidova, I.A.; Kolotii, A.D.; Gorbatchevskaia, N.L.; Beresheva, A.K. and Soloviev, I.V. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain Dev. 2001, 23(S1): S196-S201.
78. Yang, Y.; Geldmacher, D.S. and Herrup, K. DNA replication precedes neuronal cell death in Alzheimer's disease. J. Neurosci. 2001, 21(8): 2661-2668.
79. van de Laar, I.; Rabelink, G.; Hochstenbach, R.; Tuerlings, J.; Hoogeboom, J. and Giltay J. Diploid/triploid mosaicism in dysmorphic patients. Clin. Genet. 2002, 62(5): 376-382.
80. Cavalcanti, D.P. and Zanchetta, L.M. Interphase-FISH study in three patients with tetraploid/diploid mosaicism. Eur. J. Med. Genet. 2005, 48(1): 41-50.
81. Zhao, X.X. Chromosome instability. In: Gersen S.L., Keagle M.B., editors. The Principles of Clinical Cytogenetics (Second Edition). Totowa. NJ. Humana Press 2005, pp. 347-361.
82. Gollin, S.M. Mechanisms leading to chromosomal instability. Sem. Cancer Biol. 2005, 15(1): 33-42.
83. McKinnon, P.J. ATM and ataxia telangiectasia. EMBO Rep. 2004, 5(8): 772-776.
84. Yang, Y. and Herrup K. Loss of neuronal cell cycle control in ataxia-telangiectasia: a unified disease mechanism. J. Neurosci. 2005, 25(10): 2522-2529.
85. Shiloh, Y. ATM and related protein kinases: safeguarding genome integrity. Nat. Rev. Cancer 2003, 3(3): 155-168.
86. Iourov, I.Y.; Vorsanova, S.G. and Yurov Y.B. Ataxia telangiectasia paradox can be explained by chromosome instability at the subtissue level. Med. Hypotheses 2006, doi:10.1016/j.mehy.2006.09.021
87. Liehr, T. and Claussen, U. Multicolor-FISH approaches for the charactertzation of human chromosomes in clinical genetics and tumor cytogenetics. Curr. Genomics 2002, 3: 213-235.
88. Hsu, L.Y.F. Kaffe, S.; Jenkins, E.C.; Alonso, L.; Benn, P.A.; David, K.; Hirschhorn, K.; Lieber, E.; Shanske, A.; Shapiro, L.R.; Schutta, E. and Warburton, D. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat. Diagn. 1992, 12(7):555-573.
89. Yurov, Y.B.; Soloviev, I.V.; Vorsanova, S.G.; Marcais, B.; Roizes, G. and Lewis, R. High resolution fluorescence in situ hybridization using cyanine and fluorescein dyes: ultra-rapid chromosome detection by directly fluorescently labeled alphoid DNA probes. Hum. Genet. 1996, 97(3): 390-398.
90. Yurov, Y.B.; Vorsanova, S.G.; Soloviev, I.V.; Demidova, I.A.; Alexandrov, I.A.; Sharonin, V.O. and Beresheva, A.K. (2002) Original collection of DNA probes for preimplantational, fetal prenatal and postnatal diagnosis of chromosomal analysis by FISH. In: Macek MSr, Bianchi D, Cuckle H, editors. Early prenatal diagnosis, fetal cells and DNA in mother. Present state and perspectives. Prague. The Karolinum Press 2002, p 275-283.
91. Vorsanova, S.G.; Iourov, I.Y.; Beresheva, A.K.; Demidova, I.A.; Monakhov, V.V.; Kravets, V.S.; Bartseva, O.B.; Goyko, E.A.; Soloviev, I.V. and Yurov, Y.B. Non-disjunction of chromosome 21, alphoid DNA variation, and sociogenetic features of Down syndrome. Tsitol. Genet. 2005, 39(6): 30-36.
92. Soloviev, I.V.; Yurov, Y.B.; Vorsanova, S.G.; Fayet, F.; Roizes G. and Malet, P. Prenatal diagnosis of trisomy 21 using interphase fluorescence in situ hybridization of postreplicated cells with site-specific cosmid and cosmid contig probes. Prenat. Diagn. 1995, 15(3): 237-248
93. Levsky, J.M. and Singer, R.H. Fluorescence in situ hybridization: past, present and future. J. Cell Sci. 2003, 116(14): 2833-2838.
94. Iourov, I.Y.; Soloviev, I.V.; Vorsanova, S.G.; Monakhov, V.V. and Yurov, Y. B. An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics. J. Histochem. Cytochem. 2005, 53(3): 401-408.
95. Liehr, T.; Heller, A.; Starke, H.; Rubtsov, N.; Trifonov, V.; Mrasek, K.; Weise, A.; Kuechler, A. and Claussen, U. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int. J. Mol. Med. 2002, 9(4): 335-339.
96. Salman, M.; Jhanwar, S.C. and Ostrer H. Will the new cytogenetics replace the old cytogenctics? Clin. Genet. 2004, 66(4): 265-275.
97. Langer, S.; Geigl, J.B.; Gangnus, R. and Speicher M.R. Sequential application of interphase-FISH and CGH to single cells. Lab. Invest. 2005, 85(4): 582-592.
98. Pellestor, F. Development and adaptation of the PRINS technology: an overview. Methods Mol. Biol. 2006, 334: 211-220.
99. Pellestor, F.; Paulasova, P.; Macek, M. and Hamamah, S. The use of peptide nucleic acids for in situ identification of human chromosomes. J. Histochem. Cytochem. 2005, 53(3): 395-400.
100. Brenardi, G.; Olofsson, B.; Filipski, J.; Zerial, M.; Salinas, J.; Cuny, G.; Meunier-Rotival, M. and Rodier, F. The mosaic genome of warm-blooded vertebrates. Science 1985, 228(4702): 953-958.
101. Tjio, H.J. and Levan, A. The chromosome numbers of man. Hereditas 1956, 42(1): 1-6.
102. Levsky, J.M. and Singer, R.H. Gene expression and the myth of the average cell. Trends Cell Biol. 2003, 13(1):4-6.