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Landscape of X chromosome inactivation across human tissues

Author

Listed:
  • Taru Tukiainen

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Alexandra-Chloé Villani

    (Broad Institute of MIT and Harvard
    Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital)

  • Angela Yen

    (Broad Institute of MIT and Harvard
    Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology)

  • Manuel A. Rivas

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard
    Stanford University)

  • Jamie L. Marshall

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Rahul Satija

    (Broad Institute of MIT and Harvard
    New York Genome Center
    Center for Genomics and Systems Biology, New York University)

  • Matt Aguirre

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Laura Gauthier

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Mark Fleharty

    (Broad Institute of MIT and Harvard)

  • Andrew Kirby

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Beryl B. Cummings

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Stephane E. Castel

    (New York Genome Center
    Columbia University)

  • Konrad J. Karczewski

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • François Aguet

    (Broad Institute of MIT and Harvard)

  • Andrea Byrnes

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Tuuli Lappalainen

    (New York Genome Center
    Columbia University)

  • Aviv Regev

    (Broad Institute of MIT and Harvard
    Massachusetts Institute of Technology)

  • Kristin G. Ardlie

    (Broad Institute of MIT and Harvard)

  • Nir Hacohen

    (Broad Institute of MIT and Harvard
    Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital)

  • Daniel G. MacArthur

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

Abstract

Multiple transcriptome approaches, including single-cell sequencing, demonstrate that escape from X chromosome inactivation is widespread and occasionally variable between cells, chromosomes, and tissues, resulting in sex-biased expression of at least 60 genes and potentially contributing to sex-specific differences in health and disease.

Suggested Citation

  • Taru Tukiainen & Alexandra-Chloé Villani & Angela Yen & Manuel A. Rivas & Jamie L. Marshall & Rahul Satija & Matt Aguirre & Laura Gauthier & Mark Fleharty & Andrew Kirby & Beryl B. Cummings & Stephane, 2017. "Landscape of X chromosome inactivation across human tissues," Nature, Nature, vol. 550(7675), pages 244-248, October.
    • Handle: RePEc:nat:nature:v:550:y:2017:i:7675:d:10.1038_nature24265
    DOI: 10.1038/nature24265
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    Cited by:

    1. Elizabeth J. Radford & Hong-Kee Tan & Malin H. L. Andersson & James D. Stephenson & Eugene J. Gardner & Holly Ironfield & Andrew J. Waters & Daniel Gitterman & Sarah Lindsay & Federico Abascal & Iñigo, 2023. "Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    2. Caitriona M. McEvoy & Julia M. Murphy & Lin Zhang & Sergi Clotet-Freixas & Jessica A. Mathews & James An & Mehran Karimzadeh & Delaram Pouyabahar & Shenghui Su & Olga Zaslaver & Hannes Röst & Rangi Ar, 2022. "Single-cell profiling of healthy human kidney reveals features of sex-based transcriptional programs and tissue-specific immunity," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
    3. Kynon J. M. Benjamin & Ria Arora & Arthur S. Feltrin & Geo Pertea & Hunter H. Giles & Joshua M. Stolz & Laura D’Ignazio & Leonardo Collado-Torres & Joo Heon Shin & William S. Ulrich & Thomas M. Hyde &, 2024. "Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
    4. Antonio Lentini & Huaitao Cheng & J. C. Noble & Natali Papanicolaou & Christos Coucoravas & Nathanael Andrews & Qiaolin Deng & Martin Enge & Björn Reinius, 2022. "Elastic dosage compensation by X-chromosome upregulation," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    5. Nathália Mariana Santos Sansone & Letícia Rogini Pereira & Matheus Negri Boschiero & Felipe Eduardo Valencise & Andréa Melo Alexandre Fraga & Fernando Augusto Lima Marson, 2022. "Characterization of Clinical Features of Hospitalized Patients Due to the SARS-CoV-2 Infection in the Absence of Comorbidities Regarding the Sex: An Epidemiological Study of the First Year of the Pand," IJERPH, MDPI, vol. 19(15), pages 1-20, July.
    6. Peixiang Zhang & Joseph J. Munier & Carrie B. Wiese & Laurent Vergnes & Jenny C. Link & Fahim Abbasi & Emilio Ronquillo & Katherine Scheker & Antonio Muñoz & Yu-Lin Kuang & Elizabeth Theusch & Meng Lu, 2024. "X chromosome dosage drives statin-induced dysglycemia and mitochondrial dysfunction," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
    7. Weiyin Zhou & Anja Fischer & Martin D. Ogwang & Wen Luo & Patrick Kerchan & Steven J. Reynolds & Constance N. Tenge & Pamela A. Were & Robert T. Kuremu & Walter N. Wekesa & Nestory Masalu & Esther Kaw, 2023. "Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    8. Michael B. Heskett & Athanasios E. Vouzas & Leslie G. Smith & Phillip A. Yates & Christopher Boniface & Eric E. Bouhassira & Paul T. Spellman & David M. Gilbert & Mathew J. Thayer, 2022. "Epigenetic control of chromosome-associated lncRNA genes essential for replication and stability," Nature Communications, Nature, vol. 13(1), pages 1-19, December.
    9. Norman L. Lehman & Nathalie Spassky & Müge Sak & Amy Webb & Cory T. Zumbar & Aisulu Usubalieva & Khaled J. Alkhateeb & Joseph P. McElroy & Kirsteen H. Maclean & Paolo Fadda & Tom Liu & Vineela Gangala, 2022. "Astroblastomas exhibit radial glia stem cell lineages and differential expression of imprinted and X-inactivation escape genes," Nature Communications, Nature, vol. 13(1), pages 1-20, December.
    10. Elsa Leitão & Christopher Schröder & Ilaria Parenti & Carine Dalle & Agnès Rastetter & Theresa Kühnel & Alma Kuechler & Sabine Kaya & Bénédicte Gérard & Elise Schaefer & Caroline Nava & Nathalie Drouo, 2022. "Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X," Nature Communications, Nature, vol. 13(1), pages 1-17, December.

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