ArticleHuman genetics2005
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 28 citations in OpenAlex.
- Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.Genome research · 2014Article
- Sequencing primate genomes: what have we learned?Annual review of genomics and human genetics · 2009Review
- Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2009Article
- Molecular mechanisms of chromosomal rearrangement during primate evolution.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2008Review
- Chromosomal inversions between human and chimpanzee lineages caused by retrotransposons.PloS one · 2008Article
- A genetic linkage map of the vervet monkey (Chlorocebus aethiops sabaeus).Mammalian genome : official journal of the International Mammalian Genome Society · 2007Article
- Structural divergence between the human and chimpanzee genomes.Human genetics · 2007Review
- On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees.Genome biology · 2007Article
- Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes.Human genetics · 2006Article
- Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees.Human genetics · 2006Article
- Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region.Nucleic acids research · 2006Article
- Dispersion of transposable elements and multigene families: Microstructural variation in Characidium (Characiformes: Crenuchidae) genomes.Genetics and molecular biologyArticle
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the homologue of human chromosome 5. Breakpoint-spanning BAC clones were identified from both the human and chimpanzee genomes by fluorescence in situ hybridisation, and the precise locations of the breakpoints were determined by sequence comparisons. In stark contrast to some other characterised evolutionary rearrangements in primates, this chimpanzee-specific inversion appears not to have been mediated by either gross segmental duplications or low-copy repeats, although micro-duplications were found adjacent to the breakpoints. However, alternating purine-pyrimidine (RY) tracts were detected at the breakpoints, and such sequences are known to adopt non-B DNA conformations that are capable of triggering DNA breakage and genomic rearrangements. Comparison of the breakpoint region of human chromosome 5q15 with the orthologous regions of the chicken, mouse, and rat genomes, revealed similar but non-identical syntenic disruptions in all three species. The clustering of evolutionary breakpoints within this chromosomal region, together with the presence of multiple pathological breakpoints in the vicinity of both 5p15 and 5q15, is consistent with the non-random model of chromosomal evolution and suggests that these regions may well possess intrinsic features that have served to mediate a variety of genomic rearrangements, including the pericentric inversion in chimpanzee chromosome 4.
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