Multicolor chromosome painting in diagnostic and research applications

Chromosome Research

Volumn 12, Issue 1, 2004, Pages 15-23

  Langer, Sabine ^a,b   Kraus, Jürgen ^a,b   Jentsch, Isabell ^a,b   Speicher, Michael R ^a,b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

Centromere; Chromosome painting; Clinical cytogenetics; DNA probes; in situ hybridization; Telomere

Indexed keywords

CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; COLOR; CYTOGENETICS; DIAGNOSTIC PROCEDURE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTERPHASE; KARYOTYPING; MOLECULAR PROBE; NONHUMAN; PRIORITY JOURNAL; REVIEW;

ANIMALS; CHROMOSOME PAINTING; DNA PROBES; FEMALE; HUMANS; INTERPHASE; KARYOTYPING; METAPHASE; MICE; RESEARCH;

EQUIDAE;

EID: 0442329154     PISSN: 09673849     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:CHRO.0000009326.21752.88     Document Type: Review

References (62)

1. Albertson DG, Pinkel D (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12 (Suppl 2): R145-52.
2. Azofeifa J, Fauth C, Kraus J et al. (2000) An optimized probe set for the detection of small interchromosomal aberrations by 24-color FISH. Am J Hum Genet 66: 1684-1688.
3. Barros RM, Nagamachi CY, Pieczarka JC et al. (2003) Chromosomal studies in Callicebus donacophilus pallescens, with classic and molecular cytogenetic approaches: multicolour FISH using human and Saguinus oedipus painting probes. Chromosome Res 11: 327-334.
4. Bolzer A, Craig JM, Cremer T, Speicher MR (1999) A complete set of repeat-depleted, PCR-amplifiable, human chromosome-specific painting probes. Cytogenet Cell Genet 84: 233-240.
5. Brown J, Saracoglu K, Uhrig S, Speicher MR, Eils R, Kearney L (2001) Subtelomeric chromosome rearrangements are detected using an innovative 12-colour FISH assay (M-TEL). Nat Med 7: 497-501.
6. Carter NP, Ferguson-Smith MA, Perryman MT et al. (1992) Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J Med Genet 29: 299-307.
7. Cheung VG, Nowak N, Jang W et al. (2001) Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 409: 953-958.
8. Chudoba I, Plesch A, Lörch T, Lemke J, Claussen U, Senger G (1999) High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes. Cytogenet Cell Genet 84: 156-160.
9. Collins C, Kuo WL, Segraves R, Fuscoe J, Pinkel D, Gray JW (1991) Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes. Genomics 11: 997-1006.
10. Craig JM, Kraus J, Cremer T (1997) Removal of repetitive sequences from FISH probes using PCR-assisted affinity chromatography. Hum Genet 100: 472-476.
11. Cremer T, Cremer C, Baumann H et al. (1982) Rabl's model of the interphase chromosome arrangement tested in Chinese hamster cells by premature chromosome condensation and laser-UV-microbeam experiments. Hum Genet 60: 46-56.
12. Cremer T, Lichter P, Borden J, Ward DC, Manuelidis L (1988) Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes. Hum Genet 80: 235-246.
13. Cremer T, Cremer C (2001) Chromosome territories, nuclear architecture and gene regulation in mammalian cells. Nat Rev Genet 2: 292-301.
14. Fauth C, Speicher MR (2001) Classifying by colors: FISH-based genome analysis. Cytogenet Cell Genet 93: 1-10.
15. Fauth C, Zhang H, Harabacz S et al. (2001) A new strategy for the detection of subtelomeric rearrangements. Hum Genet 109: 576-583.
16. Fiegler H, Gribble SM, Burford DC et al. (2003a) Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. J Med Genet 40: 664-670.
17. Fiegler H, Carr P, Douglas EJ et al. (2003b) DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36: 361-374.
18. Froenicke L, Anderson LK, Wienberg J, Ashley T (2002) Male mouse recombination maps for each autosome identified by chromosome painting. Am J Hum Genet 71: 1353-1368.
19. Granzow M, Popp S, Keller M et al. (2003d) Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der (5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals. Hum Genet 107: 51-57.
20. Gribble SM, Fiegler H, Burford DC et al. (2004) Applications of combined DNA microarray and chromosome sorting technologies. Chromosome Res 12: 35-43.
21. Guan XY, Meltzer PS, Trent JM (1994) Rapid generation of whole chromosome painting probes (WCPs) by chromosome microdissection. Genomics 22: 101-107.
22. Henegariu O, Artan S, Greally JM et al. (2001) Cryptic translocation identification in human and mouse using several telomeric multiplex FISH (TM-FISH) strategies. Lab Invest 81: 483-491.
23. Jauch A, Wienberg J, Stanyon R et al. (1992) Reconstruction of genomic rearrangements in great apes and gibbons by chromosome painting. Proc Natl Acad Sci USA 89: 8611-8615.
24. Jentsch I, Adler ID, Carter NP, Speicher MR (2001) Karyotyping mouse chromosomes by multiplex-FISH (M-FISH). Chrom Res 9: 211-214.
25. Karhu R, Ahlstedt-Soini M, Bittner M, Meltzer P, Trent JM, Isola JJ (2001) Chromosome arm-specific multicolor-FISH. Genes Chromosomes Cancer 30: 105-109.
26. Klein CA, Schmidt-Kittler O, Schardt JA, Pantel K, Speicher MR, Riethmüller G (1999) Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells. Proc Natl Acad Sci USA 96: 4494-4499.
27. Klein CA, Blankenstein TJ, Schmidt-Kittler O et al. (2002) Genetic heterogeneity of single disseminated tumour cells in minimal residual cancer. Lancet 360: 683-689.
28. Kraus J, Lederer G, Keri C et al. (2003a) A familial unbalanced subtelomeric translocation resulting in a monosomy 6q27→qter. J Med Genet 40: e48
29. Kraus J, Cohen M, Speicher MR (2003b) Multicolor-FISH fine-mapping unravels an insertion as a complex chromosomal rearrangement involving 6 breakpoints and a 5.89 Mb large deletion. J Med Genet 40: e60
30. Lacoste TD, Michalet X, Pinaud F, Chemla DS, Alivisatos AP, Weiss S (2000) Ultrahigh-resolution multicolor colocalization of single fluorescent probes. Proc Natl Acad Sci USA 97: 9461-9466.
31. Landegent JE, Jansen in de Wal N, Dirks RW, Baas F, van der Ploeg M (1987) Use of whole cosmid cloned genomic sequences for chromosomal localization by non-radioactive in situ hybridization. Hum Genet 77: 366-370.
32. Langer S, Fauth C, Rocchi M, Murken J, Speicher MR (2001a) AcroM-FISH analyses of marker chromosomes. Hum Genet 109: 152-158.
33. Langer S, Jentsch I, Gangnus R, Yan H, Lengauer C, Speicher MR (2001b) Facilitating haplotype analysis by fully automated analysis of all chromosomes in human-mouse hybrid cell lines. Cytogenet Cell Genet 93: 11-15.
34. Lengauer C, Speicher MR, Popp S et al. (1993) Chromosomal bar codes constructed by fluorescence in situ hybridization with Alu-PCR. products of multiple YAC clones. Hum Mol Genet 2: 505-512.
35. Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC (1988) Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 80: 224-234.
36. Liyanage M, Coleman A, du Manoir S et al. (1996) Multicolor spectral karyotyping of mouse chromosomes. Nat Genet 14: 312-315.
37. Lizardi PM, Huang X, Zhu Z et al. (1998) Mutation detection and single-molecule counting using isothermal rolling-circle amplification. Nat Genet 19: 225-232.
38. Maierhofer C, Jentsch I, Lederer G, Fauth C, Speicher MR (2002) Multicolor-FISH in two and three dimensions for clastogenic analyses. Mutagenesis 17: 523-527.
39. Malmgren H, Sahlen S, Inzunza J et al. (2002) Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations. Mol Hum Reprod 8: 502-510.
40. Müller S, O'Brien PC, Ferguson-Smith MA, Wienberg J (1997a) A novel source of highly specific chromosome painting probes for human karyotype analysis derived from primate homologues. Hum Genet 101: 149-153.
41. Müller S, Rocchi M, Ferguson-Smith MA, Wienberg J (1997b) Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization. Hum Genet 100: 271-278.
42. Müller S, O'Brien PC, Ferguson-Smith MA, Wienberg J (1998) Cross-species colour segmenting: a novel tool in human karyotype analysis. Cytometry 33: 445-452.
43. Müller S, Neusser M, Wienberg J (2002) Towards unlimited colors for fluorescence in situ hybridization (FISH). Chrom Res 10: 223-232.
44. Pinkel D, Landegent J, Collins C et al. (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85: 9138.
45. Pinkel D, Segraves R, Sudar D et al. (1998) High resolution analysis of DNA copy number variations using comparative genomic hybridization to microarrays. Nat Genet 20: x207-211.
46. Scherthan H, Cremer T, Arnason U, Weier HU, Lima-de-Faria A, Frönicke L (1994) Comparative chromosome painting discloses homologous segments in distantly related mammals. Nat Genet 6: 342-347.
47. Schmidt-Kittler O, Ragg T, Daskalakis A et al. (2003) From latent disseminated cells to overt metastasis: genetic analysis of systemic breast cancer progression. Proc Natl Acad Sci USA 100: 7737-7742.
48. Schröck E, du Manoir S, Veldman T et al. (1996) Multicolor spectral karyotyping of human chromosomes. Science 273: 494-497.
49. Schröck E, Veldman T, Padilla-Nash H et al. (1997) Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 101: 255-262.
50. Snijders AM, Nowak N, Segraves R et al. (2001) Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 29: 263-264.
51. Solinas-Toldo S, Lampel S, Stilgenbauer S et al. (1997) Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20: 399-407.
52. Speicher MR, Ballard SG, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12: 368-375.
53. Speleman F, Leroy JG, Van Roy N et al. (1991) Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. Am J Med Genet 41: 381-387.
54. Taneja KL, Chavez EA, Coull J, Lansdorp PM (2001) Multicolor fluorescence in situ hybridization with peptide nucleic acid probes for enumeration of specific chromosomes in human cells. Genes Chromosomes Cancer 30: 57-63.
55. Tanke HJ, Wiegant J, van Gijlswijk RPM et al. (1999) New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling. Eur J Hum Genet 7: 2-11.
56. Telenius H, Pelmear AH, Tunnacliffe A et al. (1992) Cytogenetic analysis by chromosome painting using DOP-PCR-amplified flow-sorted chromosomes. Genes Chromosomes Cancer 4: 257-263.
57. Uhrig S, Schuffenhauer S, Fauth C et al. (1999) Multiplex-FISH (M-FISH) for pre-and postnatal diagnostic applications. Am J Hum Genet 65: 448-462.
58. Veldman T, Vignon C, Schröck E, Rowley JD, Ried T (1997) Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. Nat Genet 15: 406-410.
59. Voullaire L, Wilton L, Slater H, Williamson R (1999) Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagnosis 19: 846-851.
60. Wells D, Sherlock JK, Handyside AH, Delhanty JD (1999) Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res 27: 1214-1218.
61. Wiegant J, Bezrookove V, Rosenberg C et al. (2000) Differentially painting human chromosome arms with combined binary ratio-labeling fluorescence in situ hybridization. Genome Res 10: 861-865.
62. Zhong XB, Lizardi PM, Huang XH, Bray-Ward PL, Ward DC (2001) Visualization of oligonucleotide probes and point mutations in interphase nuclei and DNA fibers using rolling circle DNA amplification. Proc Natl Acad Sci USA 98: 3940-3945.