ArticleAmerican journal of human genetics2000
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 180 citations in OpenAlex.
- Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review.The Yale journal of biology and medicine · 2021Pooled it
- A Del(5PNAS nexus · 2025Article
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- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- Recent advances in understanding the genetic basis of systemic lupus erythematosus.Seminars in immunopathology · 2022Review
- Amygdala connectivity and implications for social cognition and disorders.Handbook of clinical neurology · 2022Review
- Review
- Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.Genetics · 2021Article
- The other side of the coin: Hypersociability.Genes, brain, and behavior · 2019Review
- Discovery of Novel Small-Molecule Inhibitors of LIM Domain Kinase for Inhibiting HIV-1.Journal of virology · 2017Article
- A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.Nature genetics · 2017Article
- Adaptive Behavior and Development of Infants and Toddlers with Williams Syndrome.Frontiers in psychology · 2016Article
- Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.Clinics (Sao Paulo, Brazil) · 2014Observational
- Novel anti-HIV therapeutics targeting chemokine receptors and actin regulatory pathways.Immunological reviews · 2013Review
- 2012 William Allan Award: Adventures in cytogenetics.American journal of human genetics · 2013Article
- Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.PLoS genetics · 2012Article
- Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.BMC research notes · 2012Article
- Continuous cognitive dynamics of the evaluation of trustworthiness in williams syndrome.Frontiers in psychology · 2012Article
- Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.PloS one · 2012Article
- Alterations in diffusion properties of white matter in Williams syndrome.Magnetic resonance imaging · 2011Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion of the elastin gene, the various features of WBS have not yet been attributed to specific genes. Although >/=16 genes have been identified within the WBS deletion, completion of a physical map of the region has been difficult because of the large duplicated regions flanking the deletion. We present a physical map of the WBS deletion and flanking regions, based on assembly of a bacterial artificial chromosome/P1-derived artificial chromosome contig, analysis of high-throughput genome-sequence data, and long-range restriction mapping of genomic and cloned DNA by pulsed-field gel electrophoresis. Our map encompasses 3 Mb, including 1.6 Mb within the deletion. Two large duplicons, flanking the deletion, of >/=320 kb contain unique sequence elements from the internal border regions of the deletion, such as sequences from GTF2I (telomeric) and FKBP6 (centromeric). A third copy of this duplicon exists in inverted orientation distal to the telomeric flanking one. These duplicons show stronger sequence conservation with regard to each other than to the presumptive ancestral loci within the common deletion region. Sequence elements originating from beyond 7q11.23 are also present in these duplicons. Although the duplicons are not present in mice, the order of the single-copy genes in the conserved syntenic region of mouse chromosome 5 is inverted relative to the human map. A model is presented for a mechanism of WBS-deletion formation, based on the orientation of duplicons' components relative to each other and to the ancestral elements within the deletion region.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.