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The landscape of genomic imprinting across diverse adult human tissues.
Baran, Yael; Subramaniam, Meena; Biton, Anne; Tukiainen, Taru; Tsang, Emily K; Rivas, Manuel A; Pirinen, Matti; Gutierrez-Arcelus, Maria; Smith, Kevin S; Kukurba, Kim R; Zhang, Rui; Eng, Celeste; Torgerson, Dara G; Urbanek, Cydney; Li, Jin Billy; Rodriguez-Santana, Jose R; Burchard, Esteban G; Seibold, Max A; MacArthur, Daniel G; Montgomery, Stephen B; Zaitlen, Noah A; Lappalainen, Tuuli.
Afiliação
  • Baran Y; The Blavatnik School of Computer Science, Tel-Aviv University, Tel Aviv 69978, Israel;
  • Subramaniam M; Department of Medicine, University of California San Francisco, San Francisco, California 94158, USA;
  • Biton A; Department of Medicine, University of California San Francisco, San Francisco, California 94158, USA;
  • Tukiainen T; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA;
  • Tsang EK; Department of Pathology, Stanford University, Stanford, California 94305, USA; Biomedical Informatics Program, Stanford University, Stanford, California 94305, USA;
  • Rivas MA; Wellcome Trust Center for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, OX3 7BN, United Kingdom;
  • Pirinen M; Institute for Molecular Medicine Finland, University of Helsinki, 00014 Helsinki, Finland;
  • Gutierrez-Arcelus M; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland;
  • Smith KS; Department of Pathology, Stanford University, Stanford, California 94305, USA; Department of Genetics, Stanford University, Stanford, California 94305, USA;
  • Kukurba KR; Department of Pathology, Stanford University, Stanford, California 94305, USA; Department of Genetics, Stanford University, Stanford, California 94305, USA;
  • Zhang R; Department of Genetics, Stanford University, Stanford, California 94305, USA;
  • Eng C; Department of Medicine, University of California San Francisco, San Francisco, California 94158, USA;
  • Torgerson DG; Department of Medicine, University of California San Francisco, San Francisco, California 94158, USA;
  • Urbanek C; Integrated Center for Genes, Environment, and Health, National Jewish Health, Denver, Colorado 80206, USA;
  • Li JB; Department of Genetics, Stanford University, Stanford, California 94305, USA;
  • Rodriguez-Santana JR; Centro de Neumología Pediátrica, San Juan, Puerto Rico, 00917;
  • Burchard EG; Department of Medicine, University of California San Francisco, San Francisco, California 94158, USA; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California 94158, USA;
  • Seibold MA; Integrated Center for Genes, Environment, and Health, National Jewish Health, Denver, Colorado 80206, USA; Department of Pediatrics, National Jewish Health, Denver, Colorado 80206, USA; Division of Pulmonary Sciences and Critical Care Medicine, Department of Medicine, University of Colorado-Denver,
  • MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA; Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115
  • Montgomery SB; Department of Pathology, Stanford University, Stanford, California 94305, USA; Department of Genetics, Stanford University, Stanford, California 94305, USA;
  • Zaitlen NA; Department of Medicine, University of California San Francisco, San Francisco, California 94158, USA;
  • Lappalainen T; New York Genome Center, New York, New York 10013, USA; Department of Systems Biology, Columbia University, New York, New York 10032, USA.
Genome Res ; 25(7): 927-36, 2015 Jul.
Article em En | MEDLINE | ID: mdl-25953952
Genomic imprinting is an important regulatory mechanism that silences one of the parental copies of a gene. To systematically characterize this phenomenon, we analyze tissue specificity of imprinting from allelic expression data in 1582 primary tissue samples from 178 individuals from the Genotype-Tissue Expression (GTEx) project. We characterize imprinting in 42 genes, including both novel and previously identified genes. Tissue specificity of imprinting is widespread, and gender-specific effects are revealed in a small number of genes in muscle with stronger imprinting in males. IGF2 shows maternal expression in the brain instead of the canonical paternal expression elsewhere. Imprinting appears to have only a subtle impact on tissue-specific expression levels, with genes lacking a systematic expression difference between tissues with imprinted and biallelic expression. In summary, our systematic characterization of imprinting in adult tissues highlights variation in imprinting between genes, individuals, and tissues.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Impressão Genômica / Genômica Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Impressão Genômica / Genômica Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article