ArticleAmerican journal of human genetics1994
A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- First case of two supernumerary markers derived from chromosome 5 and chromosome 8.Molecular cytogenetics · 2022Article
- The effect of chromosome abnormalities on expression of SnoRNA in radioresistant and radiosensitive cell lines after irradiation.Cancer biomarkers : section A of Disease markers · 2022Article
- Unrepaired DNA damage facilitates elimination of uniparental chromosomes in interspecific hybrid cells.Cell cycle (Georgetown, Tex.) · 2014Article
- Inverted duplications on acentric markers: mechanism of formation.Human molecular genetics · 2009Article
- Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.American journal of human genetics · 2008Review
- From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Nature reviews. Genetics · 2007Review
- Chromosomal dynamics of human neocentromere formation.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Review
- Neocentromeres: role in human disease, evolution, and centromere study.American journal of human genetics · 2002Review
- Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.American journal of human genetics · 2001Article
- Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.American journal of human genetics · 2000Review
- Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.American journal of human genetics · 2000Article
- Centromere protein B null mice are mitotically and meiotically normal but have lower body and testis weights.The Journal of cell biology · 1998Article
- Article
- Characterization of marker chromosomes by fish using microdissected probes from old Carnoy-fixed cells: report of two cases.The Japanese journal of human genetics · 1997Article
- Centromere DNA dynamics: latent centromeres and neocentromere formation.American journal of human genetics · 1997Review
- Surprising deficiency of CENP-B binding sites in African green monkey alpha-satellite DNA: implications for CENP-B function at centromeres.Molecular and cellular biology · 1996Article
- Analysis of extrachromosomal structures containing human centromeric alphoid satellite DNA sequences in mouse cells.Chromosoma · 1996Article
- Chromosome manipulation: a systematic approach toward understanding human chromosome structure and function.Proceedings of the National Academy of Sciences of the United States of America · 1996Review
- An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite.Human genetics · 1996Article
- A novel mechanism for the origin of supernumerary marker chromosomes.Human genetics · 1996Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A centromere is considered to be an essential chromosomal component where microtubule-kinetochore interaction occurs to segregate sister chromatids faithfully and acentric chromosomes are unstable and lost through cell divisions. We report a novel marker chromosome that was acentric but stable through cell divisions. The patient was a 2-year-old girl with mental retardation, patent ductus arteriosus, and mild dysmorphic features. G-banded chromosome analysis revealed that an additional small marker chromosome was observed in all 100 cells examined. By the reverse-chromosome-painting method, the marker was found to originate from the distal region of 8p, and a subsequent two-color FISH analysis with cosmid probes around the region revealed that the marker was an inverted duplication interpreted as 8pter-->p23.1::p23.1-->8pter. No centromeric region was involved in the marker. By FISH, no alpha-satellite sequence was detected on the marker, while a telomere sequence was detected at each end. Anti-kinetochore immunostaining, using a serum from a patient with CREST (calcinosis, Raynaud syndrome, esophageal dismotility, sclerodactyly, and telangiectasia) syndrome, showed a pair of signals on the marker, which indicated that a functional kinetochore was present on the marker. The analysis of this patient might suggest the possibility that an ancient centromere sequence exists at distal 8p (8p23.1-pter) and was activated through the chromosome rearrangement in the patient.
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