ArticleAmerican journal of human genetics2003
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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Who cites it
81 citing papers in PubMed, 185 citations in OpenAlex.
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- Template switching during DNA replication is a prevalent source of adaptive gene amplification.bioRxiv : the preprint server for biology · 2024Article
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- Rational design and construction of multi-copy biomanufacturing islands in mammalian cells.Nucleic acids research · 2022Article
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- New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.Brain sciences · 2020Review
- Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.Genome medicine · 2019Article
- Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome.Genome research · 2019Article
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- Madagascar ground gecko genome analysis characterizes asymmetric fates of duplicated genes.BMC biology · 2018Article
- Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.Frontiers in genetics · 2018Review
- Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy.Journal of pediatric genetics · 2017Article
- Mechanisms for Complex Chromosomal Insertions.PLoS genetics · 2016Article
- Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Human genetics · 2016Article
- Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.Human mutation · 2016Article
- The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.American journal of human genetics · 2015Article
- Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.3 Biotech · 2015Article
- PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.BMC genomics · 2015Article
21 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
To investigate the potential involvement of genome architecture in nonrecurrent chromosome rearrangements, we analyzed the breakpoints of eight translocations and 18 unusual-sized deletions involving human proximal 17p. Surprisingly, we found that many deletion breakpoints occurred in low-copy repeats (LCRs); 13 were associated with novel large LCR17p structures, and 2 mapped within an LCR sequence (middle SMS-REP) within the Smith-Magenis syndrome (SMS) common deletion. Three translocation breakpoints involving 17p11 were found to be located within the centromeric alpha-satellite sequence D17Z1, three within a pericentromeric segment, and one at the distal SMS-REP. Remarkably, our analysis reveals that LCRs constitute >23% of the analyzed genome sequence in proximal 17p--an experimental observation two- to fourfold higher than predictions based on virtual analysis of the genome. Our data demonstrate that higher-order genomic architecture involving LCRs plays a significant role not only in recurrent chromosome rearrangements but also in translocations and unusual-sized deletions involving 17p.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.