Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations

Chromosome Research

Volumn 6, Issue 2, 1998, Pages 115-122

  Page, Scott L ^a   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Centromere; Centromere protein C; Dicentric chromosome; Robertsonian translocation

Indexed keywords

ARTICLE; CENTROMERE; CHROMOSOME 13Q; CHROMOSOME 14Q; CLINICAL ARTICLE; DICENTRIC CHROMOSOME; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MOLECULAR STABILITY; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION;

CELL LINE; CENTROMERE; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; TRANSLOCATION, GENETIC;

EID: 0031888870     PISSN: 09673849     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1009286929145     Document Type: Article

References (73)

1. Atkins L, Bartsocas CS (1974) Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21,+t (15q21q) and 46,XX,-21,+t(21q21q). J Med Genet 11: 306-309.
2. Brasch JM, Smyth DR (1979) Absence of silver bands in human Robertsonian translocation chromosomes. Cytogenet Cell Genet 24: 122-125.
3. Brown MT (1995) Sequence similarities between the yeast chromosome segregation protein Mif2 and the mammalian centromere protein CENP-C. Gene 160: 111-116.
4. Brown MT, Goetsch L, Hartwell LH (1993) MIF2 is required for mitotic spindle integrity during anaphase spindle elongation in Saccharomyces cerevisiae. J Cell Biol 123: 387-403.
5. Choo KH, Vissel B, Nagy A, Earle E, Kalitsis P (1990) A survey of the genomic distribution of alpha satellite DNA on all the human chromosomes, and derivation of a new consensus sequence. Nucleic Acids Res 19: 1179-1182.
6. Daniel A (1979) Single Cd band in dicentric translocations with one suppressed centromere. Hum Genet 48: 85-92.
7. Daniel A, Lam-Po-Tang PRLC (1976) Structure and inheritance of some heterozygous Robertsonian translocations in man. J Med Genet 13: 381-388.
8. Daniel A, Ekblom L, Phillips S, FitzGerald JM, Opitz JM (1985) NOR activity and centromere suppression related in a de novo fusion tdic(9;13)(p22;p13) chromosome in a child with del(9p) syndrome. Am J Hum Genet 22: 577-584.
9. Dewald GW, Boros SJ, Conroy MM, Dahl RJ, Spurbeck JL, Vitek HA (1979) A tdic(5;15)(p13;p11) chromosome showing variation for constriction in the centromere regions in a patient with the cri du chat syndrome. Cytogenet Cell Genet 24: 15-26.
10. Drets ME, Therman E (1983) Human telomeric 6;19 translocation chromosome with a tendency to break at the fusion point. Chromosoma 88: 139-144.
11. Earnshaw WC, Migeon BR (1985) Three related centromere proteins are absent from the inactive centromere of a stable isodicentric chromosome. Chromosoma 92: 290-296.
12. Earnshaw WC, Rothfield N (1985) Identification of a family of human centromere proteins using autoimmune sera from patients with scleroderma. Chromosoma 91: 313-321.
13. Earnshaw WC, Bordwell B, Marino C, Rothfield N (1986) Three human chromosomal autoantigens are recognized by sera from patients with anti-centromere antibodies. J Clin Invest 77: 426-430.
14. Earnshaw WC, Sullivan KF, Machlin PS et al. (1987) Molecular cloning of cDNA for CENP-B, the major human centromere autoantigen. J Cell Biol 104: 817-829.
15. Earnshaw WC, Ratrie H, Stetten G (1989) Visualization of centromere proteins CENP-B and CENP-C on a stable dicentric chromosome in cytological spreads. Chromosoma 98: 1-12.
16. Gravholt CH, Friedrich U, Caprani M, Jørgensen AL (1992) Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization. Genomics 14: 924-930.
17. Haaf T, Schmid M (1990) Y isochromosome associated with a mosaic karyotype and inactivation of the centromere. Hum Genet 85: 486-490.
18. Haaf T, Warburton PE, Willard HF (1992) Integration of human α-satellite into simian chromosomes: centromere protein binding and disruption of normal chromosome segregation. Cell 70: 681-696.
19. Hair JB (1953) The origin of new chromosomes in Agropyron. Heredity 6 (Suppl.): 215-233.
20. Hamerton JL, Canning N, Ray M, Smith S (1975) A cytogenetic survey of 14,069 newborn infants. Clin Genet 8: 223-243.
21. Han JY, Choo KHA, Shaffer LG (1994) Molecular cytogenetic characterization of 17 rob(13q14q) Robertsonian translocations by FISH, narrowing the region containing the break-points. Am J Hum Genet 55: 960-967.
22. Hsu TC, Pathak S, Chen TR (1975) The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations. Cytogenet Cell Genet 15: 41-49.
23. Ing PS, Smith SD (1983) Cytogenetic studies of a patient with mosaicism of isochromosome 13q and a dicentric (Y;13) translocation showing differential centromeric activity. Clin Genet 24: 194-199.
24. Jenkins MB, Kriel R, Boyd L (1981) Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation. J Med Genet 18: 68-71.
25. John B, Freeman M (1975) Causes and consequences of Robertsonian exchange. Chromosoma 52: 123-126.
26. Larin Z, Fricker MD, Tyler-Smith C (1994) De novo formation of several features of a centromere following introduction of a Y alphoid YAC into a mammalian cells. Hum Mol Genet 3: 689-695.
27. Lieber E, Shah P (1982) Two Robertsonian translocations in a boy with mental retardation. J Med Genet 19: 229-232.
28. Lucas J, Le Mee F, Pluquailec K, Le Maree B, Journel H, Picard F (1986) 46,XX,t(15;21)/47,XX,15p-,+21 mosaicism in a child with Down's syndrome. Ann Génét 29: 104-106.
29. Manuelidis L (1978) Chromosomal localization of complex and simple repeated human DNAs. Chromosoma 66: 23-32.
30. Maraschio P, Zuffardi O, Caiulo A et al. (1990) Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation. Hum Genet 85: 491-494.
31. Masumoto H, Masukata H, Muro Y, Nozaki N, Okazaki T (1989) A human centromere antigen (CENP-B) interacts with a short specific sequence in alphoid DNA, a human centromeric satellite. J Cell Biol 109: 1963-1973.
32. Mattel M-G, Mattei J-F, Ayme S, Giraud F (1979) Dicentric Robertsonian translocations in man: 17 cases studied by R, C, and N banding. Hum Genet 50: 33-38.
33. McClintock B (1939) The behavior in successive nuclear divisions of a chromosome broken at meiosis. Proc Natl Acad Sci USA 25: 405-416.
34. Meluh PB, Koshland D (1995) Evidence that the MIF2 gene of Saccharomyces cerevisiae encodes a centromere protein with homology to the mammalian centromere protein CENP-C. Mol Biol Cell 6: 793-807.
35. Merry DE, Pathak S, Hsu TC, Brinkley BR (1985) Anti-kinetochore antibodies: use as probes for inactive centromeres. Am J Hum Genet 37: 425-430.
36. Mikkelsen M, Basli A, Poulsen H (1980) Nucleolus organizer regions in translocations involving acrocentric chromosomes. Cytogenet Cell Genet 26: 14-21.
37. Mitchell AR, Gosden JR, Miller DA (1985) A cloned sequence, p82H, of the alphoid repeated DNA family found at the centromeres of all human chromosomes. Chromosoma 92: 369-377.
38. Nicklas RB (1997) How cells get the right chromosomes. Science 275: 632-637.
39. Niebuhr E (1972a) Unusual findings by fluorescence microscopy of a t(13q14q). Humangenetik 15: 96-98.
40. Niebuhr E (1972b) Dicentric and monocentric Robertsonian translocations in man. Humangenetik 16: 217-226.
41. Niebuhr E (1972c) A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome. Cytogenetics 11: 165-177.
42. Page SL, Shaffer LG (1997) Nonhomologous Robertsonian translocations form predominantly during female meiosis. Nature Genet 15: 231-232.
43. Page SL, Earnshaw WC, Choo KHA, Shaffer LG (1995) Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X;15) with simultaneous immunofluorescence and FISH. Hum Mol Genet 4: 289-294.
44. Page SL, Shin JC, Han JY, Choo KHA, Shaffer LG (1996) Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet 5: 1279-1288.
45. Palmer DK, O'Day K, Trong HL, Charbonneau H, Margolis RL (1991) Purification of the centromere-specific protein CENP-A and demonstration that it is a distinctive histone. Proc Natl Acad Sci USA 88: 3734-3738.
46. Peretti D, Maraschio P, Lambiase S, Lo Curto F, Zuffardi O (1986) Indirect immunofluorescence of inactive centromeres as indicator of centromeric function. Hum Genet 73: 12-16.
47. Rivera H, Zuffardi O, Maraschio P et al. (1989) Alternate centromere inactivation in a pseudodicentric (15;20)(pter; pter) associated with a progressive neurological disorder. J Med Genet 26: 626-630.
48. Saitoh H, Tomkiel J, Cooke CA et al. (1992) CENP-C, an autoantigen in scleroderma, is a component of the human inner kinetochore plate. Cell 70: 115-125.
49. Sears ER, Câmara A (1952) A transmissible dicentric chromosome. Genetics 37: 125-135.
50. Sinha AK, Pathak S, Nora JJ (1972) A human family suggesting evidence for centric fission and stability of a telocentric chromosome. Hum Hered 22: 423-429.
51. Subrt I, Blehová B, Táborsky O (1971) Dicentric chromosome due to an unusual fusion. Humangenetik 12: 136-141.
52. Sugimoto K, Yata H, Muro Y, Himeno M (1994) Human centromere protein C (CENP-C) is a DNA-binding protein which possesses a novel DNA-binding motif. J Biochem 116: 877-881.
53. Sullivan BA, Schwartz S (1995) Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres. Hum Mol Genet 4: 2189-2197.
54. Sullivan BA, Wolff DJ, Schwartz S (1994) Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy. Chromosoma 103: 459-467.
55. Sullivan BA, Jenkins LS, Karson EM, Leana-Cox J, Schwartz S (1996) Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations, Am J Hum Genet 59: 167-175.
56. Sullivan KF, Hechenberger M, Masri K (1994) Human CENP-A contains a histone H3 related histone fold domain that is required for targeting to the centromere. J Cell Biol 127: 581-592.
57. Therman E, Sarto GE, Patau K (1974) Apparently isodicentric but functionally monocentric X chromosome in man. Am J Hum Genet 26: 83-92.
58. Therman E, Susman B, Denniston C (1989) The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet 53: 49-65.
59. Tomkiel J, Cooke CA, Saitoh H, Bernat RL, Earnshaw WC (1994) CENP-C is required for maintaining proper kinetochore size and for a timely transition to anaphase. J Cell Biol 125: 531-545.
60. Vianna-Morgante AM, Nunesmaia HG (1978) Dissociation as probable origin of mosaic 45,XX,t(15;21)/46,XY,i(21q). J Med Genet 15: 305-310.
61. Vianna-Morgante AM, Rosenberg C (1986) Deletion of the centromere as a mechanism for achieving stability of a dicentric chromosome. Cytogenet Cell Genet 42: 119-122.
62. Vig BK, Latour D, Brown M (1996) Localization of anti-CENP antibodies and alphoid sequences in acentric heterochromatin in a breast cancer cell line. Cancer Genet Cytogenet 88: 118-125.
63. Vissel B, Choo KH (1987) Human alpha satellite DNA - consensus sequence and conserved regions. Nucleic Acids Res 15: 6751-6752.
64. Wandall A (1989) Kinetochore development in two dicentric chromosomes in man. A light and electron microscopic study. Hum Genet 82: 137-141.
65. Wandall A (1994) A stable dicentric chromosome: both centromeres develop kinetochores and attach to the spindle in monocentric and dicentric configuration. Chromosomes 103: 56-62.
66. Wandall A (1995) Clonal origin of partially inactivated centromeres in a stable dicentric chromosome. Cytogenet Cell Genet 69: 193-195.
67. Warburton PE, Cooke CA, Bourassa S et al. (1997) Immuno-localization of CENP-A, a kinetochore-specific histone H3 variant, suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres. Curr Biol 7: 901-904.
68. Waye JS, Willard HE (1987) Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: a survey of alphoid sequences from different human chromosomes. Nucleic Acids Res 15: 7549-7569.
69. Wells S, Gregson N, Porter RJ (1991) A case of mosaicism involving an unstable 13/14 Robertsonian translocation. Prenat Diagn 11: 875-880.
70. Wevrick R, Willard HF (1989) Long-range organization of tandem arrays of α satellite DNA at the centromeres of human chromosomes: high-frequency array-length polymorphism and meiotic stability. Proc Natl Acad Sci USA 86: 9394-9398.
71. Wolff DJ, Schwartz S (1992) Characterization of Robertsonian translocations by using fluorescence in situ hybridization. Am J Hum Genet 50: 174-181.
72. Yang CH, Tomkiel J, Saitoh H, Johnson DH, Earnshaw WC (1996) Identification of overlapping DNA-binding and centromere-targeting domains in the human kinetochore protein CENP-C. Mol Cell Biol 16: 3576-3586.
73. Zuffardi O, Danesino C, Poloni L, Pavesi F, Bianchi C, Gargantini L (1980) Ring chromosome 12 and latent centromeres. Cytogenet Cell Genet 28: 151-157.