Human Molecular Genetics, Vol 8, 205-215, Copyright © 1999 by Oxford University Press
MS Jackson, M Rocchi, G Thompson, T Hearn, M Crosier, J Guy, D Kirk, L Mulligan, A Ricco, S Piccininni, R Marzella, L Viggiano and N Archidiacono
Little is known about sequence organization close to human centromeres,
despite empirical and theoretical data which suggest that it may be
unusual. Here we present maps which physically define large sequence
duplications flanking the centromeric satellites of human chromosome 10,
together with a fluorescence in situ hybridization (FISH) analysis of
pericentromeric sequence stability. Our results indicate that the
duplications on each chromosome arm are organized into two blocks of
approximately 250 and 150 kb separated by approximately 300 kb of non-
duplicated DNA. The larger proximal blocks, containing ZNF11A, ZNF33A and
ZNF37A (10p11) and ZNF11B, ZNF33B and ZNF37B (10q11), are inverted.
However, the smaller distal blocks, containing D10S141A (10p11) and
D10S141B (10q11), are not. A primate FISH analysis indicates that these
loci were duplicated before the divergence of orang-utans from other Great
Apes, that a cytogenetically cryptic pericentric inversion may have been
involved in the formation of the flanking duplications and that they have
undergone further rearrangement in other primate species. More surprising
is the fact that sequences across the entire pericentromeric region appear
to have undergone unprecedented levels of duplication, transposition,
inversion and either deletion or sequence divergence in all primate species
analysed. Extrapolating our data to the whole genome suggests that a
minimum of 50 Mb of DNA in centromere- proximal regions is subject to an
elevated level of mechanistically diverse sequence rearrangements compared
with the bulk of genomic DNA.
ARTICLES
Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations
Department of Human Genetics, University of Newcastle upon Tyne, 19/20 Claremont Place, Newcastle upon Tyne NE2 4AA, UK. mjackson@hgmp.mrc.ac.uk
![]()
CiteULike
Connotea
Del.icio.us What's this?
This article has been cited by other articles:
![]() |
S. Kirsch, C. Munch, Z. Jiang, Z. Cheng, L. Chen, C. Batz, E. E. Eichler, and W. Schempp Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions Genome Res., July 1, 2008; 18(7): 1030 - 1042. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. Lee, E. Cheran, and M. Brudno A robust framework for detecting structural variations in a genome Bioinformatics, July 1, 2008; 24(13): i59 - i67. [Abstract] [Full Text] [PDF] |
||||
![]() |
T. L. Newman, E. Tuzun, V. A. Morrison, K. E. Hayden, M. Ventura, S. D. McGrath, M. Rocchi, and E. E. Eichler A genome-wide survey of structural variation between human and chimpanzee Genome Res., October 1, 2005; 15(10): 1344 - 1356. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. E. Horvath, C. L. Gulden, R. U. Vallente, M. Y. Eichler, M. Ventura, J. D. McPherson, T. A. Graves, R. K. Wilson, S. Schwartz, M. Rocchi, et al. Punctuated duplication seeding events during the evolution of human chromosome 2p11 Genome Res., July 1, 2005; 15(7): 914 - 927. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. Mrasek, H. Starke, and T. Liehr Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2: Towards a Genotype/Phenotype Correlation J. Histochem. Cytochem., March 1, 2005; 53(3): 367 - 370. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. M. Snijders, N. J. Nowak, B. Huey, J. Fridlyand, S. Law, J. Conroy, T. Tokuyasu, K. Demir, R. Chiu, J.-H. Mao, et al. Mapping segmental and sequence variations among laboratory mice using BAC array CGH Genome Res., February 1, 2005; 15(2): 302 - 311. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. Zhao, J. Shetty, L. Hou, A. Delcher, B. Zhu, K. Osoegawa, P. de Jong, W. C. Nierman, R. L. Strausberg, and C. M. Fraser Human, Mouse, and Rat Genome Large-Scale Rearrangements: Stability Versus Speciation Genome Res., October 1, 2004; 14(10a): 1851 - 1860. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. Ventura, S. Weigl, L. Carbone, M. F. Cardone, D. Misceo, M. Teti, P. D'Addabbo, A. Wandall, E. Bjorck, P. J. de Jong, et al. Recurrent Sites for New Centromere Seeding Genome Res., September 1, 2004; 14(9): 1696 - 1703. [Abstract] [Full Text] [PDF] |
||||
![]() |
E. Tuzun, J. A. Bailey, and E. E. Eichler Recent Segmental Duplications in the Working Draft Assembly of the Brown Norway Rat Genome Res., April 1, 2004; 14(4): 493 - 506. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. Ventura, J. M. Mudge, V. Palumbo, S. Burn, E. Blennow, M. Pierluigi, R. Giorda, O. Zuffardi, N. Archidiacono, M. S. Jackson, et al. Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25 Genome Res., September 1, 2003; 13(9): 2059 - 2068. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. E. Horvath, C. L. Gulden, J. A. Bailey, C. Yohn, J. D. Mcpherson, A. Prescott, B. A. Roe, P. J de Jong, M. Ventura, D. Misceo, et al. Using a Pericentromeric Interspersed Repeat to Recapitulate the Phylogeny and Expansion of Human Centromeric Segmental Duplications Mol. Biol. Evol., September 1, 2003; 20(9): 1463 - 1479. [Abstract] [Full Text] [PDF] |
||||
![]() |
V. Eder, M. Ventura, M. Ianigro, M. Teti, M. Rocchi, and N. Archidiacono Chromosome 6 Phylogeny in Primates and Centromere Repositioning Mol. Biol. Evol., September 1, 2003; 20(9): 1506 - 1512. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. Kost-Alimova, H. Kiss, L. Fedorova, Y. Yang, J. P. Dumanski, G. Klein, and S. Imreh Coincidence of synteny breakpoints with malignancy-related deletions on human chromosome 3 PNAS, May 27, 2003; 100(11): 6622 - 6627. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. Courseaux, F. Richard, J. Grosgeorge, C. Ortola, A. Viale, C. Turc-Carel, B. Dutrillaux, P. Gaudray, and J.-L. Nahon Segmental Duplications in Euchromatic Regions of Human Chromosome 5: A Source of Evolutionary Instability and Transcriptional Innovation Genome Res., March 1, 2003; 13(3): 369 - 381. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Guy, T. Hearn, M. Crosier, J. Mudge, L. Viggiano, D. Koczan, H.-J. Thiesen, J. A. Bailey, J. E. Horvath, E. E. Eichler, et al. Genomic Sequence and Transcriptional Profile of the Boundary Between Pericentromeric Satellites and Genes on Human Chromosome Arm 10p Genome Res., February 1, 2003; 13(2): 159 - 172. [Abstract] [Full Text] [PDF] |
||||
![]() |
J.A. BAILEY and E.E. EICHLER Genome-wide Detection and Analysis of Recent Segmental Duplications within Mammalian Organisms Cold Spring Harb Symp Quant Biol, January 1, 2003; 68(0): 115 - 124. [Abstract] [PDF] |
||||
![]() |
J. W. Thomas, M. G. Schueler, T. J. Summers, R. W. Blakesley, J. C. McDowell, P. J. Thomas, J. R. Idol, V. V.B. Maduro, S.-Q. Lee-Lin, J. W. Touchman, et al. Pericentromeric Duplications in the Laboratory Mouse Genome Res., January 1, 2003; 13(1): 55 - 63. [Abstract] [Full Text] [PDF] |
||||
![]() |
I. Cserpan, R. Katona, T. Praznovszky, E. Novak, M. Rozsavolgyi, E. Csonka, M. Morocz, K. Fodor, and G. Hadlaczky The chAB4 and NF1-related long-range multisequence DNA families are contiguous in the centromeric heterochromatin of several human chromosomes Nucleic Acids Res., July 1, 2002; 30(13): 2899 - 2905. [Abstract] [Full Text] [PDF] |
||||
![]() |
J A Fantes, S K Mewborn, C M Lese, J Hedrick, R L Brown, V Dyomin, R S K Chaganti, S L Christian, and D H Ledbetter Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q J. Med. Genet., March 1, 2002; 39(3): 170 - 177. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. Crosier, L. Viggiano, J. Guy, D. Misceo, R. Stones, W. Wei, T. Hearn, M. Ventura, N. Archidiacono, M. Rocchi, et al. Human Paralogs of KIAA0187 Were Created through Independent Pericentromeric-Directed and Chromosome-Specific Duplication Mechanisms Genome Res., January 1, 2002; 12(1): 67 - 80. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. E. Horvath, J. A. Bailey, D. P. Locke, and E. E. Eichler Lessons from the human genome: transitions between euchromatin and heterochromatin Hum. Mol. Genet., October 1, 2001; 10(20): 2215 - 2223. [Abstract] [Full Text] [PDF] |
||||
![]() |
T. K. Footz, P. Brinkman-Mills, G. S. Banting, S. A. Maier, M. A. Riazi, L. Bridgland, S. Hu, B. Birren, S. Minoshima, N. Shimizu, et al. Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere Genome Res., June 1, 2001; 11(6): 1053 - 1070. [Abstract] [Full Text] [PDF] |
||||
![]() |
L. H. Wong and K. H. A. Choo Centromere on the Move Genome Res., April 1, 2001; 11(4): 513 - 516. [Full Text] |
||||
![]() |
M. Ventura, N. Archidiacono, and M. Rocchi Centromere Emergence in Evolution Genome Res., April 1, 2001; 11(4): 595 - 599. [Abstract] [Full Text] |
||||
![]() |
R. L. Kolnicki Kinetochore reproduction in animal evolution: Cell biological explanation of karyotypic fission theory PNAS, August 15, 2000; 97(17): 9493 - 9497. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Guy, C. Spalluto, A. McMurray, T. Hearn, M. Crosier, L. Viggiano, V. Miolla, N. Archidiacono, M. Rocchi, C. Scott, et al. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q Hum. Mol. Genet., August 12, 2000; 9(13): 2029 - 2042. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. E. Horvath, S. Schwartz, and E. E. Eichler The Mosaic Structure of Human Pericentromeric DNA: A Strategy for Characterizing Complex Regions of the Human Genome Genome Res., June 1, 2000; 10(6): 839 - 852. [Abstract] [Full Text] |
||||
![]() |
Y. Ji, E. E. Eichler, S. Schwartz, and R. D. Nicholls Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders Genome Res., May 1, 2000; 10(5): 597 - 610. [Abstract] [Full Text] |
||||
![]() |
J. E. Horvath, L. Viggiano, B. J. Loftus, M. D. Adams, N. Archidiacono, M. Rocchi, and E. E. Eichler Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11 Hum. Mol. Genet., January 1, 2000; 9(1): 113 - 123. [Abstract] [Full Text] [PDF] |
||||
![]() |
G. Montefalcone, S. Tempesta, M. Rocchi, and N. Archidiacono Centromere Repositioning Genome Res., December 1, 1999; 9(12): 1184 - 1188. [Abstract] [Full Text] |
||||
![]() |
E. E. Eichler, N. Archidiacono, and M. Rocchi CAGGG Repeats and the Pericentromeric Duplication of the Hominoid Genome Genome Res., November 1, 1999; 9(11): 1048 - 1058. [Abstract] [Full Text] |
||||
![]() |
J. A. Bailey, A. M. Yavor, H. F. Massa, B. J. Trask, and E. E. Eichler Segmental Duplications: Organization and Impact Within the Current Human Genome Project Assembly Genome Res., June 1, 2001; 11(6): 1005 - 1017. [Abstract] [Full Text] [PDF] |
||||








