ArticleHuman molecular genetics2009
Inverted duplications on acentric markers: mechanism of formation.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.Journal of human genetics · 2023Article
- Case Report: Prenatal Identification of aFrontiers in genetics · 2022Article
- The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA.Nature communications · 2018Review
- Review
- Ring chromosomes: from formation to clinical potential.Protoplasma · 2018Review
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.Molecular cytogenetics · 2018Article
- Neocentromeres to the Rescue of Acentric Chromosome Fragments.Molecular syndromology · 2017Article
- Human Structural Variation: Mechanisms of Chromosome Rearrangements.Trends in genetics : TIG · 2015Review
- Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.Molecular cytogenetics · 2015Article
- Large inverted duplications in the human genome form via a fold-back mechanism.PLoS genetics · 2014Article
- A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.Molecular syndromology · 2012Article
- Neocentric X-chromosome in a girl with Turner-like syndrome.Molecular cytogenetics · 2012Article
- De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.PloS one · 2012Article
- Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres.Chromosoma · 2011Article
- Origin-dependent inverted-repeat amplification: a replication-based model for generating palindromic amplicons.PLoS genetics · 2011Article
- Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.Molecular cytogenetics · 2011Article
- Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.Human molecular genetics · 2010Article
- Centromere activity in dicentric small supernumerary marker chromosomes.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2010Article
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7 authors.
Funding
Abstract
Acentric inverted duplication (inv dup) markers, the largest group of chromosomal abnormalities with neocentromere formation, are found in patients both with idiopathic mental retardation and with cancer. The mechanism of their formation has been investigated by analyzing the breakpoints and the genotypes of 12 inv dup marker cases (three trisomic, six tetrasomic, two polysomic and one X chromosome derived marker) using a combination of fluorescence in situ hybridization, quantitative SNP array and microsatellite analysis. Inv dup markers were found to form either symmetrically with one breakpoint or asymmetrically with two distinct breakpoints. Genotype analyses revealed that all inv dup markers formed from one single chromatid end. This observation is incompatible with the previously suggested model by which the acentric inv dup markers form through inter-chromosomal U-type exchange. On the basis of the identification of DNA sequence motifs with inverted homologies within all observed breakpoint regions, a new general mechanism is proposed for the acentric inv dup marker formation: following a double-strand break an acentric fragment forms, during either meiosis or mitosis. The open DNA end of the acentric fragment is stabilized by the formation of an intra-chromosomal loop promoted by the presence of sequences with inverted homologies. Likely coinciding with the neocentromere formation, this stabilized fragment is duplicated during an early mitotic event, insuring the marker's survival during cell division and its presence in all cells.
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