Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: Unusual chromosome 9 variant

Lukusa, T; Devriendt, Koenraad; Holvoet, Maureen

doi:10.1002/(sici)1096-8628(20000320)91:3<192::aid-ajmg7>3.0.co;2-d

Cited by 4 publications

(2 citation statements)

References 30 publications

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“…3) are consistent with this expectation. These blocks may also be involved in the formation of a dicentric chromosome 9 with tandem head-to-tail duplication of the 9p11-q13 region reported by Lukusa et al (2000). Further analyses will be needed to determine if these blocks of homology bound the duplicated segments.…”

Section: Paralogy and (Deleterious) Rearrangementsmentioning

confidence: 93%

Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human Chromosomes

Fan

Linardopoulou²,

Friedman³

et al. 2002

Genome Res.

110

100

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Human chromosome 2 was formed by the head-to-head fusion of two ancestral chromosomes that remained separate in other primates. Sequences that once resided near the ends of the ancestral chromosomes are now interstitially located in 2q13-2q14.1. Portions of these sequences had duplicated to other locations prior to the fusion. Here we present analyses of the genomic structure and evolutionary history of >600 kb surrounding the fusion site and closely related sequences on other human chromosomes. Sequence blocks that closely flank the inverted arrays of degenerate telomere repeats marking the fusion site are duplicated at many, primarily subtelomeric, locations. In addition, large portions of a 168-kb centromere-proximal block are duplicated at 9pter, 9p11.2, and 9q13, with 98%-99% average sequence identity. A 67-kb block on the distal side of the fusion site is highly homologous to sequences at 22qter. A third ∼100-kb segment is 96% identical to a region in 2q11.2. By integrating data on the extent and similarity of these paralogous blocks, including the presence of phylogenetically informative repetitive elements, with observations of their chromosomal distribution in nonhuman primates, we infer the order of the duplications that led to their current arrangement. Several of these duplicated blocks may be associated with breakpoints of inversions that occurred during primate evolution and of recurrent chromosome rearrangements in humans.

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Section: Paralogy and (Deleterious) Rearrangementsmentioning

confidence: 93%

Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human Chromosomes

Fan

Linardopoulou²,

Friedman³

et al. 2002

Genome Res.

110

100

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“…21 Rearrangements of chromosome 9 do not show site-specific breakpoints. [22][23][24][25][26] Therefore, NHEJ seems to be the most likely mechanism for rearrangements of chromosome 9p. 27 In silico sequence analysis of chromosomes 5 and 9 showed the existence in the breakpoint region 5p13.3 of L1PA2, a LINE sequence with homology with L1PA3 in the breakpoint regions in 9p13.3 and in 9p22.1 and with L1PA7 in 9p22.1.…”

Section: Lines Mediating the Rearrangement?mentioning

confidence: 99%

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

Chabchoub¹,

Rodríguez

Galán

et al. 2007

Journal of Medical Genetics

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Background: Broken chromosomes must acquire new telomeric ''caps'' to be structurally stable. Chromosome healing can be mediated either by telomerase through neo-telomere synthesis or by telomere capture. Aim: To unravel the mechanism(s) generating complex chromosomal mosaicisms and healing broken chromosomes. Methods: G banding, array comparative genomic hybridization (aCGH), fluorescence in-situ hybridisation (FISH) and short tandem repeat analysis (STR) was performed on a girl presenting with mental retardation, facial dysmorphism, urogenital malformations and limb anomalies carrying a complex chromosomal mosaicism. Results & discussion: The karyotype showed a de novo chromosome rearrangement with two cell lines: one cell line with a deletion 9pter and one cell line carrying an inverted duplication 9p and a non-reciprocal translocation 5pter fragment. aCGH, FISH and STR analysis enabled the deduction of the most likely sequence of events generating this complex mosaic. During embryogenesis, a double-strand break occurred on the paternal chromosome 9. Following mitotic separation of both broken sister chromatids, one acquired a telomere via neotelomere formation, while the other generated a dicentric chromosome which underwent breakage during anaphase, giving rise to the del inv dup(9) that was subsequently healed by chromosome 5 telomere capture. Conclusion: Broken chromosomes can coincidently be rescued by both telomere capture and neo-telomere synthesis.

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An unusual familial chromosome 9 “variant” with variable phenotype: characterization by CGH analysis

Goumy

Tchirkov

et al. 2005

Morphologie

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Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: Unusual chromosome 9 variant

Cited by 4 publications

References 30 publications

Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human Chromosomes

Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human Chromosomes

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

An unusual familial chromosome 9 “variant” with variable phenotype: characterization by CGH analysis

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