Landscape of X chromosome inactivation across human tissues

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 E. Castel, Konrad J. Karczewski, François Aguet, Andrea Byrnes, Tuuli Lappalainen, Aviv Regev, Kristin G. Ardlie, Nir Hacohen and Daniel G. MacArthur ()
Additional contact information
Taru Tukiainen: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Alexandra-Chloé Villani: Broad Institute of MIT and Harvard
Angela Yen: Broad Institute of MIT and Harvard
Manuel A. Rivas: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Jamie L. Marshall: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Rahul Satija: Broad Institute of MIT and Harvard
Matt Aguirre: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Laura Gauthier: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Mark Fleharty: Broad Institute of MIT and Harvard
Andrew Kirby: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Beryl B. Cummings: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Stephane E. Castel: New York Genome Center
Konrad J. Karczewski: Analytic and Translational Genetics Unit, Massachusetts General Hospital
François Aguet: Broad Institute of MIT and Harvard
Andrea Byrnes: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Tuuli Lappalainen: New York Genome Center
Aviv Regev: Broad Institute of MIT and Harvard
Kristin G. Ardlie: Broad Institute of MIT and Harvard
Nir Hacohen: Broad Institute of MIT and Harvard
Daniel G. MacArthur: Analytic and Translational Genetics Unit, Massachusetts General Hospital

Nature, 2017, vol. 550, issue 7675, 244-248

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.

Date: 2017
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DOI: 10.1038/nature24265

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