ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2009
Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes.
Article in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 29 citations in OpenAlex.
- High-Resolution Assembly of the Human Y Chromosome Identifies a Vast Landscape of Inverted Repeats Associated with Structural and Functional Genomic Features.International journal of molecular sciences · 2025Article
- Characteristics and possible mechanisms of formation of microinversions distinguishing human and chimpanzee genomes.Scientific reports · 2022Article
- The Landscape of Micro-Inversions Provide Clues for Population Genetic Analysis of Humans.Interdisciplinary sciences, computational life sciences · 2020Article
- The Cyclically SeasonalFrontiers in genetics · 2020Article
- Full plastome sequence of the fern Vandenboschia speciosa (Hymenophyllales): structural singularities and evolutionary insights.Journal of plant research · 2019Article
- A survey of localized sequence rearrangements in human DNA.Nucleic acids research · 2018Article
- DNA word analysis based on the distribution of the distances between symmetric words.Scientific reports · 2017Article
- LINE-1 retrotransposons: from 'parasite' sequences to functional elements.Journal of applied genetics · 2015Article
- A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics.Mammalian genome : official journal of the International Mammalian Genome Society · 2014Article
- Segmental duplication, microinversion, and gene loss associated with a complex inversion breakpoint region in Drosophila.Molecular biology and evolution · 2012Article
- Pico-inplace-inversions between human and chimpanzee.Bioinformatics (Oxford, England) · 2011Article
- Self-catalyzed site-specific depurination of G residues mediated by cruciform extrusion in closed circular DNA plasmids.The Journal of biological chemistry · 2011Article
- Abundance of ultramicro inversions within local alignments between human and chimpanzee genomes.BMC evolutionary biology · 2011Article
- Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.The Journal of biological chemistry · 2011Article
- Assessing the role of tandem repeats in shaping the genomic architecture of great apes.PloS one · 2011Article
- Human DHX9 helicase unwinds triple-helical DNA structures.Biochemistry · 2010Article
- Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Proceedings of the National Academy of Sciences of the United States of America · 2010Review
- Non-B DNA structure-induced genetic instability and evolution.Cellular and molecular life sciences : CMLS · 2010Review
- ULTRA: A Model Based Tool to Detect Tandem Repeats.ACM-BCB ... ... : the ... ACM Conference on Bioinformatics, Computational Biology and Biomedicine. ACM Conference on Bioinformatics, Computational Biology and BiomedicineArticle
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Submicroscopic inversions have contributed significantly to the genomic divergence between humans and chimpanzees over evolutionary time. Those microinversions which are flanked by segmental duplications (SDs) are presumed to have originated via non-allelic homologous recombination between SDs arranged in inverted orientation. However, the nature of the mechanisms underlying those inversions which are not flanked by SDs remains unclear. We have investigated 35 such inversions, ranging in size from 51-nt to 22056-nt, with the goal of characterizing the DNA sequences in the breakpoint-flanking regions. Using the macaque genome as an outgroup, we determined the lineage specificity of these inversions and noted that the majority (N = 31; 89%) were associated with deletions (of length between 1-nt and 6754-nt) immediately adjacent to one or both inversion breakpoints. Overrepresentations of both direct and inverted repeats, >or= 6-nt in length and capable of non-B DNA structure formation, were noted in the vicinity of breakpoint junctions suggesting that these repeats could have contributed to double strand breakage. Inverted repeats capable of cruciform structure formation were also found to be a common feature of the inversion breakpoint-flanking regions, consistent with these inversions having originated through the resolution of Holliday junction-like cruciforms. Sequences capable of non-B DNA structure formation have previously been implicated in promoting gross deletions and translocations causing human genetic disease. We conclude that non-B DNA forming sequences may also have promoted the occurrence of mutations in an evolutionary context, giving rise to at least some of the inversion/deletions which now serve to distinguish the human and chimpanzee genomes.
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