Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-12

AUTHORS

Maria Nicla Loviglio, Christine R. Beck, Janson J. White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S. Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A. Shaw, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Jacques Rougemont, Ioannis Xenarios, James R. Lupski, Alexandre Reymond

ABSTRACT

BACKGROUND: Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. METHODS: We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor damaging variants in RAI1 using whole exome sequencing. A combination of network analysis (co-expression and biomedical text mining), transcriptomics, and circularized chromatin conformation capture (4C-seq) was applied to verify whether modified genes are part of the same disease network as known SMS-causing genes. RESULTS: Potentially deleterious variants were identified in nine of these individuals using whole-exome sequencing. Eight of these changes affect KMT2D, ZEB2, MAP2K2, GLDC, CASK, MECP2, KDM5C, and POGZ, known to be associated with Kabuki syndrome 1, Mowat-Wilson syndrome, cardiofaciocutaneous syndrome, glycine encephalopathy, mental retardation and microcephaly with pontine and cerebellar hypoplasia, X-linked mental retardation 13, X-linked mental retardation Claes-Jensen type, and White-Sutton syndrome, respectively. The ninth individual carries a de novo variant in JAKMIP1, a regulator of neuronal translation that was recently found deleted in a patient with autism spectrum disorder. Analyses of co-expression and biomedical text mining suggest that these pathologies and SMS are part of the same disease network. Further support for this hypothesis was obtained from transcriptome profiling that showed that the expression levels of both Zeb2 and Map2k2 are perturbed in Rai1 -/- mice. As an orthogonal approach to potentially contributory disease gene variants, we used chromatin conformation capture to reveal chromatin contacts between RAI1 and the loci flanking ZEB2 and GLDC, as well as between RAI1 and human orthologs of the genes that show perturbed expression in our Rai1 -/- mouse model. CONCLUSIONS: These holistic studies of RAI1 and its interactions allow insights into SMS and other disorders associated with intellectual disability and behavioral abnormalities. Our findings support a pan-genomic approach to the molecular diagnosis of a distinctive disorder. More... »

PAGES

105

References to SciGraph publications

  • 2015-06. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-03. Large-scale discovery of novel genetic causes of developmental disorders in NATURE
  • 2008-04. Smith–Magenis syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-09. An integrated encyclopedia of DNA elements in the human genome in NATURE
  • 2011-08-21. Detecting Long-Range Chromatin Interactions Using the Chromosome Conformation Capture Sequencing (4C-seq) Method in GENE REGULATORY NETWORKS
  • 2013-10-23. Topology of mammalian developmental enhancers and their regulatory landscapes in NATURE
  • 2014-02. De novo mutations in schizophrenia implicate synaptic networks in NATURE
  • 2012-04-04. Patterns and rates of exonic de novo mutations in autism spectrum disorders in NATURE
  • 2013-12. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool in BMC BIOINFORMATICS
  • 2006-11. Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture–on-chip (4C) in NATURE GENETICS
  • 1996-11. A 2.2 Å resolution crystal structure of a designed zinc finger protein bound to DNA in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 1997-10. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome in NATURE GENETICS
  • 2009-04. Segmental copy number variation shapes tissue transcriptomes in NATURE GENETICS
  • 2017-06. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes in MOLECULAR PSYCHIATRY
  • 2009-01. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources in NATURE PROTOCOLS
  • 1998-03. Crystal structure of the hCASK PDZ domain reveals the structural basis of class II PDZ domain target recognition in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2014-07. Genome sequencing identifies major causes of severe intellectual disability in NATURE
  • 2003-04. Mutations in RAI1 associated with Smith–Magenis syndrome in NATURE GENETICS
  • 2007-11. An evaluation of 3C-based methods to capture DNA interactions in NATURE METHODS
  • 2016-04. 4C-seq revealed long-range interactions of a functional enhancer at the 8q24 prostate cancer risk locus in SCIENTIFIC REPORTS
  • 2014-01. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-04. The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2004-12. Structures of human MAP kinase kinase 1 (MEK1) and MEK2 describe novel noncompetitive kinase inhibition in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2016-04. A novel de novo POGZ mutation in a patient with intellectual disability in JOURNAL OF HUMAN GENETICS
  • 2014-12. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline in BMC BIOINFORMATICS
  • 2015-06. Understanding multicellular function and disease with human tissue-specific networks in NATURE GENETICS
  • 2004-11. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome in HUMAN GENETICS
  • 2012-04-11. Topological domains in mammalian genomes identified by analysis of chromatin interactions in NATURE
  • 2016-12. POGZ truncating alleles cause syndromic intellectual disability in GENOME MEDICINE
  • 1997-04. Brief Report: Cognitive and Behavioral Profiles in Persons with Smith-Magenis Syndrome in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2011-12. Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-02. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01. Genetic studies in intellectual disability and related disorders in NATURE REVIEWS GENETICS
  • 1993-02. Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome in HUMAN GENETICS
  • 2014-11. Synaptic, transcriptional and chromatin genes disrupted in autism in NATURE
  • 2014-11. The contribution of de novo coding mutations to autism spectrum disorder in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13073-016-0359-z

    DOI

    http://dx.doi.org/10.1186/s13073-016-0359-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1006153247

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27799067


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