ArticleGenome research2005
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23.
Article in Genome research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 78 citations in OpenAlex.
- Inhibitory Systems in Brain Evolution: Pathways of Vulnerability in Neurodevelopmental Disorders.Brain, behavior and evolution · 2025Review
- Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.Cell reports · 2024Article
- Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.Genetics · 2021Article
- POM121 promotes proliferation and metastasis in non-small-cell lung cancer through TGF-β/SMAD and PI3K/AKT pathways.Cancer biomarkers : section A of Disease markers · 2021Article
- Circular DNA intermediates in the generation of large human segmental duplications.BMC genomics · 2020Article
- Genomic Variation, Evolvability, and the Paradox of Mental Illness.Frontiers in psychiatry · 2020Article
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- The evolution and population diversity of human-specific segmental duplications.Nature ecology & evolution · 2017Article
- Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study.PloS one · 2017Observational
- Major influence of repetitive elements on disease-associated copy number variants (CNVs).Human genomics · 2016Review
- Evolution of a transcriptional regulator from a transmembrane nucleoporin.Genes & development · 2016Article
- A dual comparative approach: integrating lines of evidence from human evolutionary neuroanatomy and neurodevelopmental disorders.Brain, behavior and evolution · 2014Article
- Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach.Human genetics · 2011Article
- Copy number variants at Williams-Beuren syndrome 7q11.23 region.Human genetics · 2010Review
- High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2010Article
- Genomic sister-disorders of neurodevelopment: an evolutionary approach.Evolutionary applications · 2009Article
- The value of animal models in predicting genetic susceptibility to complex diseases such as rheumatoid arthritis.Arthritis research & therapy · 2009Review
- The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.American journal of medical genetics. Part A · 2008Article
- Genetics and immunopathology of chronic granulomatous disease.Seminars in immunopathology · 2008Review
- Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.Genome research · 2008Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
About 5% of the human genome consists of segmental duplications or low-copy repeats, which are large, highly homologous (>95%) fragments of sequence. It has been estimated that these segmental duplications emerged during the past approximately 35 million years (Myr) of human evolution and that they correlate with chromosomal rearrangements. Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that is the result of a frequent de novo deletion at 7q11.23, mediated by large (approximately 400-kb) region-specific complex segmental duplications composed of different blocks. We have precisely defined the structure of the segmental duplications on human 7q11.23 and characterized the copy number and structure of the orthologous regions in other primates (macaque, orangutan, gorilla, and chimpanzee). Our data indicate a recent origin and rapid evolution of the 7q11.23 segmental duplications, starting before the diversification of hominoids (approximately 12-16 million years ago [Mya]), with species-specific duplications and intrachromosomal rearrangements that lead to significant differences among those genomes. Alu sequences are located at most edges of the large hominoid-specific segmental duplications, suggesting that they might have facilitated evolutionary rearrangements. We propose a mechanistic model based on Alu-mediated duplicated transposition along with nonallelic homologous recombination for the generation and local expansion of the segmental duplications. The extraordinary rate of evolutionary turnover of this region, rich in segmental duplications, results in important genomic variation among hominoid species, which could be of functional relevance and predispose to disease.
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