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LETTER: Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
- Ivon Cuscó,
- Roser Corominas,
- Mònica Bayés,
- Raquel Flores,
- Núria Rivera-Brugués,
- Victoria Campuzano,
- and Luis A. Pérez-Jurado
Genome Res. May 2008 18: 683-694; Published in Advance February 21, 2008, doi:10.1101/gr.073197.107
..., predisposing to disease in the offspring ( Eichler et al. 2007 ; Lupski 2007 ). The Williams-Beuren syndrome (WBS) locus is a model region of high plasticity. WBS is a rare genetic neurodevelopmental disorder [OMIM 194,050] caused by a heterozygous deletion of multiple contiguous genes at chromosome band 7q11...
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Resource: Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
- Flavia Angela Maria Maggiolini,
- Ashley D. Sanders,
- Colin James Shew,
- Arvis Sulovari,
- Yafei Mao,
- Marta Puig,
- Claudia Rita Catacchio,
- Maria Dellino,
- Donato Palmisano,
- Ludovica Mercuri,
- Miriana Bitonto,
- David Porubský,
- Mario Cáceres,
- Evan E. Eichler,
- Mario Ventura,
- Megan Y. Dennis,
- Jan O. Korbel,
- and Francesca Antonacci
Genome Res. November 2020 30: 1680-1693; Published in Advance October 22, 2020, doi:10.1101/gr.265322.120
.... 2010; Kaminsky et al. 2011); a 2.5-Mbp inversion involving the 7q11 locus predisposing to the deletion associated with Williams–Beuren syndrome (Giglio et al. 2001, 2002; Antonacci et al. 2009); a 2-Mbp inversion predisposing to RCAD syndrome (Osborne et al. 2001; Schubert 2009); a 1.5-Mbp inversion...
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Resource: Inversion variants in human and primate genomes
- Claudia Rita Catacchio,
- Flavia Angela Maria Maggiolini,
- Pietro D'Addabbo,
- Miriana Bitonto,
- Oronzo Capozzi,
- Martina Lepore Signorile,
- Mattia Miroballo,
- Nicoletta Archidiacono,
- Evan E. Eichler,
- Mario Ventura,
- and Francesca Antonacci
Genome Res. May 18, 2018 ; Published in Advance May 18, 2018, doi:10.1101/gr.234831.118
...common ancestor, predisposing to the deletion in Williams-Beuren syndrome (Osborne et al. 2001; Schubert 2009; Sanders et al. 2016); a 735-kb inversion on Chromosome 7 occurring specifically in the human lineage (Feuk et al. 2005; Sanders et al. 2016); and two inversions of 287 kb and 1.3 Mb mapping...
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Method: bigSCale: an analytical framework for big-scale single-cell data
- Giovanni Iacono,
- Elisabetta Mereu,
- Amy Guillaumet-Adkins,
- Roser Corominas,
- Ivon Cuscó,
- Gustavo Rodríguez-Esteban,
- Marta Gut,
- Luis Alberto Pérez-Jurado,
- Ivo Gut,
- and Holger Heyn
Genome Res. June 2018 28: 878-890; Published in Advance May 3, 2018, doi:10.1101/gr.230771.117
...induced pluripotent stem (iPS) cells of Williams-Beuren (WB) (Pober 2010) and 7q11.23 microduplication (Dup7) (Morris et al. 2015) syndrome patients. Simulated data sets of different size and sparsity were utilized to underline the accuracy and speed of bigSCale in DE analysis. To demonstrate its...
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Research: Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures
- Giuliana Giannuzzi,
- Eugenia Migliavacca,
- and Alexandre Reymond
Genome Res. September 2014 24: 1455-1468; Published in Advance June 10, 2014, doi:10.1101/gr.167742.113
...are indicated. 1456 Genome Research www..org Giannuzzi et al. 2005), while the 16p11.2–12.2 region has seen a rapid integration of segmental duplications in the last 15 million years of hominoid evolution that contributed to a profound modification of these chromosomal bands (Johnson et al. 2001; Antonacci et...
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Research: The effect of translocation-induced nuclear reorganization on gene expression
- Louise Harewood,
- Frédéric Schütz,
- Shelagh Boyle,
- Paul Perry,
- Mauro Delorenzi,
- Wendy A. Bickmore,
- and Alexandre Reymond
Genome Res. May 2010 20: 554-564; Published in Advance March 8, 2010, doi:10.1101/gr.103622.109
...suggests that chromosomal translocations can result in hitherto unforeseen, large-scale changes in gene expression that are the consequence of alterations in normal chromosome territory positioning. This has consequences for the patterns of gene expression change seen during tumorigenesis-associated genome...
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Research: Copy number variation modifies expression time courses
- Evelyne Chaignat,
- Emilie Aït Yahya-Graison,
- Charlotte N. Henrichsen,
- Jacqueline Chrast,
- Frédéric Schütz,
- Sylvain Pradervand,
- and Alexandre Reymond
Genome Res. January 2011 21: 106-113; Published in Advance November 17, 2010, doi:10.1101/gr.112748.110
.... Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 79: 332–341. Molina J, Carmona-Mora P, Chrast J, Krall PM, Canales CP, Lupski JR, Reymond A, Walz K. 2008. Abnormal social behaviors and altered gene expression rates...
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Research: Tissue-specific disallowance of housekeeping genes: The other face of cell differentiation
- Lieven Thorrez,
- Ilaria Laudadio,
- Katrijn Van Deun,
- Roel Quintens,
- Nico Hendrickx,
- Mikaela Granvik,
- Katleen Lemaire,
- Anica Schraenen,
- Leentje Van Lommel,
- Stefan Lehnert,
- Cristina Aguayo-Mazzucato,
- Rui Cheng-Xue,
- Patrick Gilon,
- Iven Van Mechelen,
- Susan Bonner-Weir,
- Frédéric Lemaigre,
- and Frans Schuit
Genome Res. January 2011 21: 95-105; Published in Advance November 18, 2010, doi:10.1101/gr.109173.110
..., these genes have been classified as housekeeping genes, based on their nearly ubiquitous expression. However, the specific repression in one tissue defines a special class of “disallowed genes.” In this paper, we used the intersection-union test to screen for such genes in a multi-tissue panel of genome...
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ARTICLE: Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22) by Alu-Mediated Recombination Events During Evolution
- Melanie Babcock,
- Adam Pavlicek,
- Elizabeth Spiteri,
- Catherine D. Kashork,
- Ilya Ioshikhes,
- Lisa G. Shaffer,
- Jerzy Jurka,
- and Bernice E. Morrow
Genome Res. December 2003 13: 2519-2532; doi:10.1101/gr.1549503
...in altered gene dosage associated with human genomic disorders ( Stankiewicz and Lupski 2002 ). Hemizygous deletions mediated by meiotic homologous recombination events in LCRs occur in several well characterized disorders including Williams-Beuren syndrome at chromosome band 7q11.23 (OMIM 194050), Prader...
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ARTICLE: Analysis of Segmental Duplications and Genome Assembly in the Mouse
- Jeffrey A. Bailey,
- Deanna M. Church,
- Mario Ventura,
- Mariano Rocchi,
- and Evan E. Eichler
Genome Res. May 2004 14: 789-801; doi:10.1101/gr.2238404
...in intrachromosomal duplications (black) and lacking in interchromosomal duplications (dark gray). However, many alignments are poorly characterized as indicated by the enrichment within the unplaced chromosome (chrUn—light gray). View this table: In this window In a new window Table 1. Genome Fraction of Duplicated...

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