ArticleHuman genetics2006
Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.Cell genomics · 2026Article
- Somatic Recombination Between an Ancient and a RecentInternational journal of molecular sciences · 2024Article
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- Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.Genome research · 2014Article
- Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.BMC genomics · 2014Article
- Evolutionary history and genome organization of DUF1220 protein domains.G3 (Bethesda, Md.) · 2012Article
- Article
- Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in Chinese women.PloS one · 2011Article
- Sequencing primate genomes: what have we learned?Annual review of genomics and human genetics · 2009Review
- Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assembly.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2008Article
- Molecular mechanisms of chromosomal rearrangement during primate evolution.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2008Review
- Structural divergence between the human and chimpanzee genomes.Human genetics · 2007Review
- Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting).Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2006Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human and chimpanzee genomes are distinguishable in terms of ten gross karyotypic differences including nine pericentric inversions and a chromosomal fusion. Seven of these large pericentric inversions are chimpanzee-specific whereas two of them, involving human chromosomes 1 and 18, were fixed in the human lineage after the divergence of humans and chimpanzees. We have performed detailed molecular and computational characterization of the breakpoint regions of the human-specific inversion of chromosome 1. FISH analysis and sequence comparisons together revealed that the pericentromeric region of HSA 1 contains numerous segmental duplications that display a high degree of sequence similarity between both chromosomal arms. Detailed analysis of these regions has allowed us to refine the p-arm breakpoint region to a 154.2 kb interval at 1p11.2 and the q-arm breakpoint region to a 562.6 kb interval at 1q21.1. Both breakpoint regions contain human-specific segmental duplications arranged in inverted orientation. We therefore propose that the pericentric inversion of HSA 1 was mediated by intra-chromosomal non-homologous recombination between these highly homologous segmental duplications that had themselves arisen only recently in the human lineage by duplicative transposition.
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