Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere

Peter E. Warburton, Marisa Dolled, Radma Mahmood, Alicia Alonso, Shulan Li, Kenji Naritomi, Takaya Tohma, Toshiro Nagai, Tomonobu Hasegawa, Hirofumi Ohashi, Lutgarde C.P. Govaerts, Bert H.J. Eussen, Jan O. Van Hemel, Carmen Lozzio, Stuart Schwartz, Jennifer J. Dowhanick-Morrissette, Nancy B. Spinner, Horacio Rivera, John A. Crolla, Chih yu YuDorothy Warburton

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95 Citations (Scopus)


Neocentromeres are fully functional centromeres that have arisen in previously noncentromeric chromosomal locations on rearranged chromosomes. The formation of neocentromeres results in the mitotic stability of chromosomal fragments that do not contain endogenous centromeres and that would normally be lost. Here we describe a unique collection of eight independent patient-derived cell lines, each of which contains a neocentromere on a supernumerary inversion duplication of a portion of human chromosome 13q. Findings in these patients reveal insight into the clinical manifestations associated with polysomy for portions of chromosome 13q. The results of FISH and immunofluorescent analysis of the neocentromeres in these chromosomes confirm the lack of α-satellite DNA and the presence of CENtromere proteins (CENP)-C, -E, and hMAD2. The positions of the inversion break-points in these chromosomes have been placed onto the physical map of chromosome 13, by means of FISH mapping with cosmid probes. These cell lines define, within chromosome 13q, at least three distinct locations where neocentromeres have formed, with five independent neocentromeres in band 13q32, two in band 13q21, and one in band 13q31. The results of examination of the set of 40 neocentromere-containing chromosomes that have thus far been described, including the 8 neocentromere-containing chromosomes from chromosome 13 q that are described in the present study, suggest that chromosome 13q has an increased propensity for neocentromere formation, relative to some other human chromosomes. These neocentromeres will provide the means for testing hypotheses about sequence requirements for human centromere formation.

Original languageEnglish
Pages (from-to)1794-1806
Number of pages13
JournalAmerican Journal of Human Genetics
Issue number6
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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