ArticleGenome biology2003
Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster.
Article in Genome biology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 119 citations in OpenAlex.
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- The role of unbalanced segmental duplication in sex chromosome evolution in Australian ridge-tailed goannas.Scientific reports · 2025Article
- Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon.bioRxiv : the preprint server for biology · 2024Article
- Nicotine: From Discovery to Biological Effects.International journal of molecular sciences · 2023Review
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Genomic Organization of Microsatellites andAnimals : an open access journal from MDPI · 2022Article
- The Human-Restricted Isoform of the α7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders.International journal of molecular sciences · 2022Review
- Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.Frontiers in cell and developmental biology · 2022Review
- Antiproliferative effect of GTS-21 in glioblastoma cells.Oncology letters · 2021Article
- Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.Genome research · 2020Article
- Interaction of the α7-nicotinic subunit with its human-specific duplicated dupα7 isoform in mammalian cells: Relevance in human inflammatory responses.The Journal of biological chemistry · 2018Article
- Expression patterns for nicotinic acetylcholine receptor subunit genes in smoking-related lung cancers.Oncotarget · 2017Article
- Nicotinic receptors in non-human primates: Analysis of genetic and functional conservation with humans.Neuropharmacology · 2015Review
- A Human-Specific α7-Nicotinic Acetylcholine Receptor Gene in Human Leukocytes: Identification, Regulation and the Consequences of CHRFAM7A Expression.Molecular medicine (Cambridge, Mass.) · 2015Article
- CHRFAM7A, a human-specific and partially duplicated α7-nicotinic acetylcholine receptor gene with the potential to specify a human-specific inflammatory response to injury.Journal of leukocyte biology · 2015Review
- Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.Nature genetics · 2014Article
- The duplicated α7 subunits assemble and form functional nicotinic receptors with the full-length α7.The Journal of biological chemistry · 2014Article
- Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.Genome research · 2014Article
- Hominoid fission of chromosome 14/15 and the role of segmental duplications.Genome research · 2013Article
- Multiple genes in the 15q13-q14 chromosomal region are associated with schizophrenia.Psychiatric genetics · 2012Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundPericentric inversions are the most common euchromatic chromosomal differences among humans and the great apes. The human and chimpanzee karyotype differs by nine such events, in addition to several constitutive heterochromatic increases and one chromosomal fusion event. Reproductive isolation and subsequent speciation are thought to be the potential result of pericentric inversions, as reproductive boundaries form as a result of hybrid sterility.
resultsHere we employed a comparative fluorescence in situ hybridization approach, using probes selected from a combination of physical mapping, genomic sequence, and segmental duplication analyses to narrow the breakpoint interval of a pericentric inversion in chimpanzee involving the orthologous human 15q11-q13 region. We have refined the inversion breakpoint of this chimpanzee-specific rearrangement to a 600 kilobase (kb) interval of the human genome consisting of entirely duplicated material. Detailed analysis of the underlying sequence indicated that this region comprises multiple segmental duplications, including a previously characterized duplication of the alpha7 neuronal nicotinic acetylcholine receptor subunit gene (CHRNA7) in 15q13.3 and several Golgin-linked-to-PML, or LCR15, duplications.
conclusionsWe conclude that, on the basis of experimental data excluding the CHRNA7 duplicon as the site of inversion, and sequence analysis of regional duplications, the most likely rearrangement site is within a GLP/LCR15 duplicon. This study further exemplifies the genomic plasticity due to the presence of segmental duplications and highlights their importance for a complete understanding of genome evolution.
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