An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences

American Journal of Medical Genetics

Volumn 71, Issue 4, 1997, Pages 436-442

  Vance, G H ^a,c   Curtis, C A ^a   Heerema, N A ^a   Schwartz, S ^b   Palmer, C G ^a  

^a INDIANA UNIVERSITY   (United States)

^b Center for Human Genetics   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Centromere proteins; Chromosome 9; Fluorescent in situ hybridization; Marker chromosome

Indexed keywords

ARTICLE; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME 9P; CHROMOSOME MARKER; CHROMOSOME SATELLITE ASSOCIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MITOSIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; SEQUENTIAL ANALYSIS;

ABNORMALITIES, MULTIPLE; AUTOANTIGENS; CENTROMERE; CENTROMERE PROTEIN B; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DNA, SATELLITE; DNA-BINDING PROTEINS; FEMALE; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE;

GENETTA;

EID: 0030874911     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970905)71:4<436::AID-AJMG13>3.0.CO;2-H     Document Type: Article

References (38)

1. Aleixandre C, Miller DA, Mitchell AR, Warburton DA, Gersen SL, Disteche C, Miller OJ (1987): P82H identifies sequences at every human centromere. Hum Genet 77:46-50.
2. Baldini A, Ried T, Shridhar V, Ward DC (1991): Alpha satellite DNA sequences at the non-centromeric locations 2q21 and 9q13. Cytogenet Cell Genet 58:1868.
3. Blennow E, Telenius H, Larsson C, de Vos D, Bajalica S, Ponder BAJ, Nordenskjold M (1992): Complete characterization of a large marker chromosome by reverse and forward chromosome painting. Hum Genet 90:371-374.
4. Blennow E, Telenius H, de Vos D, Larsson C, Heriksson P, Johansson O, Carter NP, Nordenskjold M (1994): Tetrasomy 15q: Two marker chromosomes with no detectable alpha-satellite DNA. Am J Hum Genet 54:877-883.
5. Bloom K (1993): The centromere frontier: Kinetochore components, microtubule-based motility, and the CEN-value paradox. Cell 73:621-624.
6. Brahe C, Raimondi E, Zappata S, Moralli D, Moscetti A, De Carli L, Serra A (1991): Identification and mapping of markers within and around the centromeric region of human chromosome 9. Cytogenet Cell Genet 58: 1934.
7. Brown W, Tyler-Smith C (1995): Centromere activation. Trends in Genetics 11:337-339.
8. Callen DF, Eyre H, Yip M-Y, Freemantle J, Haan EA (1992): Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes. Am J Med Genet 43:709-715.
9. Centerwall WR, Beatty-DeSana JW (1975): The trisomy 9p syndrome. Pediatrics 56:748-755.
10. Cooke CA, Bernat RI, Earnshaw WC (1990): CENP-B: a major human centromere protein located beneath the kinetochore. J Cell Biol 110: 1475-1488.
11. Crolla JA, Dennis NR, Jacobs PA (1992): A non-isotopic in situ hybridization study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J Med Genet 29:699-703.
12. Curtis CA, Palmer CG, Vance GH, Wilson G, Heerema NA (1995): A large marker chromosome 9 lacking chromosome 9-specific alpha and beta satellite DNA sequences. Am J Hum Genet 57:A111.
13. Dutrillaux B (1979): Chromosomal evolution in primates: Tentative phylogeny from Microcebus murinus (Prosimian) to man. Hum Genet 48: 251-314.
14. Dutrillaux B, Achkar W Al, Aledo R, Aurias A, Couturier J, Dutrillaux AM, Flury-Herard A, Gerbault-Seureau M, Hoffschir F, Lamoliatte S, Lefrancois D, Lombard M, Mamuris Z, Muleris M, Prieur M, Ricoul M, Sabatier L, Viegas-Pequignot E (1987): Isoacentric and isocentric chromosomes originating after deletions of human chromosomes. Hum Genet 76:244-247.
15. Earnshaw WC, Ratie 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. Funderburk SJ, Sparkes R, Klisak I (1979): The 9p- syndrome. J Med Genet 16:75-79.
17. Haaf T, Warburton PE, Willard HF (1992): Integration of human alpha satellite DNA into simian chromosomes: Centromere protein binding and disruption of normal chromosome segregation. Cell 70:681-696.
18. Hernandez A, Rivera G, Jimenez-Sainz M, Ragoso R, Nazar Z, Cantu JM (1979): Type and contretype signs in monosomy and trisomy 9p. Ann Gènèt 22:155-157.
19. Huret JL, Leonard C, Forestier B, Rethore MO, LeJeune J (1988): Eleven new cases of del(9p) and features from 80 cases. J Med Genet 25:741-749.
20. Lehrach H, Drmanac R, Hoheisel J, Larin Z, Lennon G, Monaco AP, Nizetic D, Zehetner G, Poustka A (1990): Hybridization fingerprinting in genome mapping and sequencing. In Davies KE, Tilghman SM (eds): "Genome Analysis, Vol. 1: Genetic and Physical Mapping." Cold Spring Harbor Laboratory Press, pp 39-81.
21. Magnani I, Sacchi N, Darfler M, Nisson PE, Tornaghi R, Fuhrman-Conti AM (1993): Identification of the chromosome 14 origin of a C-negative marker associated with a 14q32 deletion by chromosome painting. Clin Genet 43:180-185.
22. Mamuris Z, Aurias A, Dutrillaux B (1991): Identification of a break-prone structure in the 9q1 heterochromatic region. Hum Genet 86:261-264.
23. Muller-Navia J, Nebel A, Schleiermacher E (1995): Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis. Hum Genet 96:661-667.
24. Ohashi H, Wakul K, Ogawa K, Okano T, Nikawa N, Fukushima Y (1994): A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p. Am J Hum Genet 55:1202-1208.
25. Page SA, Earnshaw WC, Choo KHA, Schaffer LS (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 4:298-294.
26. Plattner B, Heerema NA, Patil SR, Howard-Peebles PN, Palmer CG (1991): Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization. Hum Genet 87:290-296.
27. Plattner R, Heerema NA, Yrov YB, Palmer CG (1993): Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes. Hum Genet 91:131-140.
28. Rhoades MM (1978): Genetic effects of heterochromatin in maize. In Walden DB (ed): "Maize Breeding and Genetics." New York: Wiley & Sons, pp 641-671.
29. Saitoh H, Tornkiel J, Cooke CA, Ratrie H, Maurer M, Rothfield N, Earnshaw WC (1992): CENP-C, an autoantigen in scleroderma is a component of the human inner kinetochore plate. Cell 70:115-125.
30. Schnizel A (1979): Trisomy 9p, a chromosome aberration with distinct radiologic findings. Radiology 130:125-133.
31. Schwartz S, Sullivan BA, Depinet TW, Becker LA, Zinn AB, Stallard JR, Micale MA, Sekhon GS, Vine D, Kaffe S (1994): Marker chromosomes lacking satellite DNA: A new intriguing class of abnormalities. Am J Hum Genet 55:A37.
32. Steiner NC, Clarke L (1994): A novel epigenetic effect can alter centromere function in fission yeast. Cell 79:865-874.
33. 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 Genetics 4: 2189-2197.
34. Thomas IT, Frias JL, Cantu ES, Lafer CZ, Flannery DB, Graham JG Jr (1989): Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet 45:193-205.
35. Viersbach R, Schwanitz G, Nothen MM (1994): Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes. Hum Genet 93:663-667.
36. Voullaire LE, Slater HR, Petrovic V, Choo AKH (1993): A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: Activation of a latent centromere? Am J Hum Genet 52:1153-1163.
37. Yen TJ, Compton DA, Wise D, Zinkowski RP, Brinkley BR, Earnshaw WC, Cleveland DW (1991): CENP-E, a novel human centromere associated protein required for progression from metaphase to anaphase. EMBO J 10:1245-1254.
38. Yen TJ, Li G, Schaar BT, Szilak I, Cleveland DW (1992): CENP-E is a putative kinetochore motor that accumulates just before mitosis. Nature 359:536-539.