Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence

American Journal of Medical Genetics

Volumn 113, Issue 3, 2002, Pages 263-267

  Assumpção, Juliana Godoy ^a   Berkofsky Fessler, Windy ^b   Campos, Nilma Viguetti ^a   Maciel Guerra, Andréa Trevas ^a   Li, Shulan ^b   Melaragno, Maria Isabel ^c   De Mello, Maricilda Palandi ^a   Warburton, Peter E ^a,b  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Chromosomal abnormalities; Chromosomal structure function; Clinical cytogenetics; FISH; Neocentromere

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CHROMOSOME IDENTIFICATION; CHROMOSOME MAP; CHROMOSOME MARKER; CHROMOSOME REARRANGEMENT; CHROMOSOME STRUCTURE; CLINICAL FEATURE; CYTOGENETICS; DNA HYBRIDIZATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; HUMAN; HYPOGONADISM; KARYOTYPE; MITOSIS; PERIPHERAL LYMPHOCYTE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; X CHROMOSOME; Y CHROMOSOME; ADOLESCENT; AMENORRHEA; CHROMOSOME BANDING PATTERN; GENETICS; SEX CHROMOSOME ABERRATION;

POMACANTHUS MACULOSUS;

ADOLESCENT; AMENORRHEA; CENTROMERE; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, Y; FEMALE; HUMANS; HYPOGONADISM; IN SITU HYBRIDIZATION, FLUORESCENCE; SEX CHROMOSOME ABERRATIONS;

EID: 0036888870     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10701     Document Type: Article

References (26)

1. Barry AE, Howman EV, Cancilla MR, Saffery R, Choo KHA. 1999. Sequence analysis of an 80 kb human neocentromere. Hum Mol Genet 8:217-227.
2. Binder G, Kich A, Wajs E, Ranke MB. 1995. Nested polymerase chain reaction study of 53 cases with Turner's syndrome: Is cytogetically undetected Y mosaicism common? J Clin Endocrinol Metab 80:3532-3535.
3. Bukvic N, Susca F, Gentile M, Tangari E, Ianniruberto A, Guanti G. 1996. An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite. Hum Genet 97:453-456.
4. Choo KHA. 1997. Centromere DNA dynamics: Latent centromeres and neocentromeres formation. Am J Hum Genet 61:1225-1233.
5. du Sart D, Cancilla MR, Earle E, Mao J, Saffery R, Tainton KM, Kalitsis P, Martyn J, Barry AE, Choo KHS. 1997. A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA. Nature Genet 16:144-153.
6. Earnshaw WC, Ratrie H, Steeten G. 1989. Visualization of centromere proteins CEBP-B and CENP-C on a stable dicentric chromosome in cytologica spreads. Chromosoma 98:1-12.
7. Floridia G, Gimelli G, Zuffardi O, Earnshaw WC, Warburton PE, Tyler-Smith C. 2000. A neocentromere in the DAZ region of the human Y chromosome. Chromosoma 109:318-327.
8. Haff 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.
9. Harrington JJ, Bokkelen GV, Mays RW, Gustashaw K, Willard HF. 1997. Formation of de novo centromeres and construction of first-generation human artificial minichromosomes. Nature Genet 15:345-355.
10. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. 1992. Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal. Hum Genet 88:471-474.
11. Hsu LYF. 1994. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108-140.
12. Ikeno M, Grimes B, Okazaki T, Nakano M, Saitoh K, Hoshino H, McGill NI, Coode H, Masumoto H. 1998. Creation of human artificial chromosomes by introduction of YACs retrofitted with human telomeric DNA. Nat Biotech 16:431-439.
13. 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 mammalian cells. Hum Mol Genet 3:689-695.
14. Lo AW, Craig JM, Saffery R, Kalitsis P, Irvine DV, Earle E, Magliano DJ, Choo KH. 2001. A 330 kb CENP-A binding domain and altered replication timing at a human neocentromere. EMBO J 20:2087-2096.
15. Manuelidis L. 1978. Chromosomal localisation of complex and simple repeated human DNAs. Chromosoma 66:23-32.
16. Nakahori Y, Mitani K, Yamada M, Nakagome Y. 1986. A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides. Nucl Acids Res 14:7569-7580.
17. Pluta AF, Mackay AM, Ainsztein AM, Goldberg IG, Earnshaw WC. 1995. The centromere: Hub of chromosomal activities. Science 270:1591-1594.
18. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Satraus D, Hovatta O, de la Chapelle A, Siber S, Page DC. 1995. Diverse spermatogencic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393.
19. Rivera H, Vasquez AI, Ayala-Madrigal ML, Ramirez-Duenas ML, Davalos IP. 1996. Alphoidless centromere of a familial unstable inverted Y chromosome. Ann Genet 39:236-239.
20. Sambrook J, Fristsch EF, Maniatis TE. 1989. Molecular Cloning: A Laboratory Manual. 2nd Edition. New York: Cold Spring Harbor Laboratory, Cold Spring Harbor.
21. Tyler-Smith C, Oakey RJ, Larin Z, Fisher RB, Crocker M, Affara NA, Ferguson-Smith MA, Muenke M, Zuffardi O, Jobling MA. 1993. Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nature Genet 5:368-375.
22. Tyler-Smith C, Gimelli G, Giglio S, Floridia G, Pandya A, Terzoli G, Warburton PE, Earnshaw WC, Zuffardi O. 1999. Transmission of a fully functional human neocentromere through three generations. Am J Hum Genet 64:1440-1444.
23. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, Bogan JS, Page DC. 1992. The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science 258:52-59.
24. Warburton PE. 2001. Epigenetic analysis of kinetochore assembly on variant human centromeres. TIG 17:243-247.
25. Warburton PE, Cooke CA, Bourassa S, Vafa O, Sullivan B, Stetten G, Gimelli G, Warburton D, Tyler-Smith C, Sullivan KF, Poirier GG, Earnshaw WC. 1997. Immunolocalization of CENP-A, a kinetochore-specific histone H3 variant, suggests a distinct nucleosome structure at the inner kinetochore plate of active centromers. Curr Biol 7:901-904.
26. Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts LCP, Eussen BHJ, Hemel JOV, Lozzio C, Schwartz S, Dowhanick-Morissette JJ, Spinner NB, Rivera H, Crolla JA, Yu C, Warburton D. 2000. Molecular cyto-genetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet 66:1794-1806.