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The impact of sex on gene expression across human tissues

Authors
Meritxell Oliva,Manuel Muñoz-Aguirre
Sarah Kim-Hellmuth,Valentin Wucher,Ariel Gewirtz,Daniel Cotter,Princy Parsana,Silva Kasela,Brunilda Balliu,Ana Viñuela,Stephane Castel,Pejman Mohammadi,François Aguet,Yuxin Zou,Ekaterina Khramtsova,Andrew Skol,Diego Garrido-Martín,Ferrán Reverter,Andrew Brown,Patrick Evans,Eric Gamazon,A. Payne,Rodrigo Bonazzola,Alvaro Barbeira,Andrew Hamel,Ángel Martínez-Pérez,José Soria,Brandon Pierce,Matthew Stephens,Eleazar Eskin,Emmanouil Dermitzakis,Ayellet Segrè,Hae Im,Barbara Engelhardt,Kristin Ardlie,Stephen Montgomery,Alexis Battle,Tuuli Lappalainen,Roderic Guigó,Barbara Stranger,Shankara Anand,Stacey Gabriel,Gad Getz,Aaron Graubert,Kane Hadley,Robert Handsaker,Katherine Huang,Seva Kashin,Xiao Li,Daniel MacArthur,Samuel Meier,Jared Nedzel,Duyen Nguyen,Ellen Todres,Christopher Brown,Donald Conrad,Nancy Cox,Sayantan Das,Olivia Goede,Jonah Einson,Tiffany Eulalio,Nicole Ferraro,Elise Flynn,Laure Frésard,Nicole Gay,Michael Gloudemans,Andrew Hame,Yuan He,Paul Hoffman,Farhad Hormozdiari,Lei Hou,Brian Jo,Manolis Kellis,Alan Kwong,Xin Li,Yanyu Liang,Serghei Mangul,Daniel Nachun,Andrew Nobel,YoSon Park,Yongjin Park,Abhiram Rao,John Rouhana,Chiara Sabatti,Ashis Saha,Benjamin Strober,Nicole Teran,Gao Wang,Xiaoquan Wen,Fred Wright,Pedro Ferreira,Gen Li,Marta Melé,Esti Yeger‐Lotem,Mary Barcus,Debra Bradbury,Tanya Krubit,Jeffrey McLean,Liqun Qi,Karna Robinson,Nancy Roche,Anna Smith,Leslie Sobin,David Tabor,Anita Undale,Jason Bridge,Lori Brigham,Barbara Foster,Bryan Gillard,Richard Hasz,Marcus Hunter,Christopher Johns,Mark Johnson,Ellen Karasik,Gene Kopen,William Leinweber,Alisa McDonald,Michael Moser,Kevin Myer,Kimberley Ramsey,Brian Roe,Saboor Shad,Jeffrey Thomas,Gary Walters,Michael Washington,J. Wheeler,Scott Jewell,Daniel Rohrer,Dana Valley,David Davis,Deborah Mash,Philip Branton,Laura Barker,Heather Gardiner,Maghboeba Mosavel,Laura Siminoff,Paul Flicek,Maximilian Haeussler,Thomas Juettemann,W. Kent,Christopher Lee,Conner Powell,Kate Rosenbloom,Magali Ruffier,Dan Sheppard,Kieron Taylor,Stephen Trevanion,Daniel Zerbino,Nathan Abell,Joshua Akey,Lin Chen,Kathryn Demanelis,Jennifer Doherty,Andrew Feinberg,Kasper Hansen,Peter Hickey,Farzana Jasmine,Lihua Jiang,Rajinder Kaul,Muhammad Kibriya,Jin Li,Qin Li,Shin Lin,Sandra Linder,Lindsay Rizzardi,Kevin Smith,M Snyder,J Stamatoyannopoulos,Hua Tang,Meng Wang,Latarsha Carithers,Ping Guan,Susan Koester,Tzintzuni Garcia,Helen Moore,Concepcion Nierras,Abhi Rao,Jimmie Vaught,Simona Volpi,Li Xiao
+178 authors
,M Kellis
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Published
Sep 10, 2020
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Abstract

Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.

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