A neocentromere in the DAZ region of the human Y chromosome

被引：19
作者：
Floridia, G
Gimelli, G
Zuffardi, O
Earnshaw, WC
Warburton, PE
Tyler-Smith, C
机构：
[1] Univ Oxford, Dept Biochem, CRC, Chromosome Mol Biol Grp, Oxford OX1 3QU, England
[2] Ist Giannina Gaslini, Lab Citogenet, I-16148 Genoa, Italy
[3] Univ Edinburgh, Inst Cell & Mol Biol, Edinburgh EH9 3JR, Midlothian, Scotland
来源：
CHROMOSOMA | 2000年 / 109卷 / 05期
基金：
英国惠康基金;
关键词：
D O I：
10.1007/s004120000081
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We describe a novel rearranged human Y chromosome consisting of an inverted duplication of the long arm heterochromatin and a small amount of euchromatin: rea(Y)(qter-q11.2::q11.2-qter). The normal centromere has been deleted and a neocentromere containing CENP-A, -C, -E and Mad2 but not CENP-B has formed close to the breakpoint. A 2.7 Mb yeast artificial chromosome contig spanning the breakpoint was constructed and the breakpoint was localised to a region of <120 kb close to the DAZ gene cluster. Combined immunofluorescence and fluorescence in situ hybridisation showed that the centromeric protein-binding domain of the neocentromere was located near the breakpoint and within the DAZ cluster.
引用
收藏
页码：318 / 327
页数：10
相关论文
共 42 条
  • [1] ALONSO AL, 2000, IN PRESS CHROMOSOME
  • [2] The spindle checkpoint
    Amon, A
    [J]. CURRENT OPINION IN GENETICS & DEVELOPMENT, 1999, 9 (01) : 69 - 75
  • [3] Sequence analysis of an 80 kb human neocentromere
    Barry, AE
    Howman, EV
    Cancilla, MR
    Saffery, R
    Choo, KHA
    [J]. HUMAN MOLECULAR GENETICS, 1999, 8 (02) : 217 - 227
  • [4] DISSECTING THE CENTROMERE OF THE HUMAN Y-CHROMOSOME WITH CLONED TELOMERIC DNA
    BROWN, KE
    BARNETT, MA
    BURGTORF, C
    SHAW, P
    BUCKLE, VJ
    BROWN, WRA
    [J]. HUMAN MOLECULAR GENETICS, 1994, 3 (08) : 1227 - 1237
  • [5] Burns EM, 1999, J CELL SCI, V112, P2705
  • [6] Centromere DNA dynamics: Latent centromeres and neocentromere formation
    Choo, KHA
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) : 1225 - 1233
  • [7] A 1ST-GENERATION PHYSICAL MAP OF THE HUMAN GENOME
    COHEN, D
    CHUMAKOV, I
    WEISSENBACH, J
    [J]. NATURE, 1993, 366 (6456) : 698 - 701
  • [8] STRUCTURE OF THE PERICENTRIC LONG ARM REGION OF THE HUMAN Y-CHROMOSOME
    COOPER, KF
    FISHER, RB
    TYLERSMITH, C
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 1992, 228 (02) : 421 - 432
  • [9] Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA
    Depinet, TW
    Zackowski, JL
    Earnshaw, WC
    Kaffe, S
    Sekhon, GS
    Stallard, R
    Sullivan, BA
    Vance, GH
    VanDyke, DL
    Willard, HF
    Zinn, AB
    Schwartz, S
    [J]. HUMAN MOLECULAR GENETICS, 1997, 6 (08) : 1195 - 1204
  • [10] duSart D, 1997, NAT GENET, V16, P144
12345