ReviewAmerican journal of human genetics2000
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.
Review in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 116 citations in OpenAlex.
- Haplotype-Resolved Genomics Reveals Conserved Chromatin Architecture and Epigenetic Constraints of Human Neocentromeres.bioRxiv : the preprint server for biology · 2025Article
- The dynamic centromere.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Review
- Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.Molecular cytogenetics · 2022Article
- Case Report: Prenatal Identification of aFrontiers in genetics · 2022Article
- De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights.Brain sciences · 2020Article
- Genetic and epigenetic effects on centromere establishment.Chromosoma · 2020Review
- Active centromere and chromosome identification in fixed cell lines.Molecular cytogenetics · 2016Article
- Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.Molecular cytogenetics · 2015Article
- Neocentric X-chromosome in a girl with Turner-like syndrome.Molecular cytogenetics · 2012Article
- Duplication of the ZIC2 gene is not associated with holoprosencephaly.American journal of medical genetics. Part A · 2012Article
- Centromere repositioning in mammals.Heredity · 2012Review
- Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres.Chromosoma · 2011Article
- Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.Cytogenetic and genome research · 2011Article
- A paucity of heterochromatin at functional human neocentromeres.Epigenetics & chromatin · 2010Article
- Inverted duplications on acentric markers: mechanism of formation.Human molecular genetics · 2009Article
- Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty.American journal of medical genetics. Part A · 2009Article
- Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.Investigative ophthalmology & visual science · 2009Article
- Analysis of the largest tandemly repeated DNA families in the human genome.BMC genomics · 2008Article
- Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.American journal of human genetics · 2008Review
- 2006 William Allan Award Address. Having it all.American journal of human genetics · 2007Article
Corrections and comments
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Authors and funding
21 authors at 11 institutions in 4 countries.
Funding
Abstract
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 alpha-satellite DNA and the presence of CENtromere proteins (CENP)-C, -E, and hMAD2. The positions of the inversion breakpoints 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 13q 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.
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