ArticleGenome research2003
Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.
Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 58 citations in OpenAlex.
- In Search of Spinal Muscular Atrophy Disease Modifiers.International journal of molecular sciences · 2024Review
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- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality inDisease models & mechanisms · 2020Article
- Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.Frontiers in molecular biosciences · 2016Review
- Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.PloS one · 2014Article
- The evolution of human segmental duplications and the core duplicon hypothesis.Cold Spring Harbor symposia on quantitative biology · 2009Review
- Primate-specific spliced PMCHL RNAs are non-protein coding in human and macaque tissues.BMC evolutionary biology · 2008Article
- Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms.PLoS genetics · 2008Article
- Segmental duplications and evolutionary plasticity at tumor chromosome break-prone regions.Genome research · 2008Article
- Construction, characterization, and chromosomal mapping of a fosmid library of the white-cheeked gibbon (Nomascus leucogenys).Genomics, proteomics & bioinformatics · 2007Article
- A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle.The Journal of cell biology · 2007Article
- Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.Human genetics · 2006Article
- A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications.Genome research · 2006Article
- Evidence for widespread reticulate evolution within human duplicons.American journal of human genetics · 2005Article
- Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.Human genetics · 2005Article
- Serial segmental duplications during primate evolution result in complex human genome architecture.Genome research · 2004Article
- The SPANX gene family of cancer/testis-specific antigens: rapid evolution and amplification in African great apes and hominids.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
- Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments.The EMBO journal · 2004Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent analyses of the structure of pericentromeric and subtelomeric regions have revealed that these particular regions of human chromosomes are often composed of blocks of duplicated genomic segments that have been associated with rapid evolutionary turnover among the genomes of closely related primates. In the present study, we show that euchromatic regions of human chromosome 5-5p14, 5p13, 5q13, 5q15-5q21-also display such an accumulation of segmental duplications. The structure, organization and evolution of those primate-specific sequences were studied in detail by combining in silico and comparative FISH analyses on human, chimpanzee, gorilla, orangutang, macaca, and capuchin chromosomes. Our results lend support to a two-step model of transposition duplication in the euchromatic regions, with a founder insertional event at the time of divergence between Platyrrhini and Catarrhini (25-35 million years ago) and an apparent burst of inter- and intrachromosomal duplications in the Hominidae lineage. Furthermore, phylogenetic analysis suggests that the chronology and, likely, molecular mechanisms, differ regarding the region of primary insertion-euchromatic versus pericentromeric regions. Lastly, we show that as their counterparts located near the heterochromatic region, the euchromatic segmental duplications have consistently reshaped their region of insertion during primate evolution, creating putative mosaic genes, and they are obvious candidates for causing ectopic rearrangements that have contributed to evolutionary/genomic instability.
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