Volume 550 Number 7675 pp158-294

12 October 2017


The GTEx (Genotype-Tissue Expression) Consortium has established a reference catalogue and associated tissue biobank for gene-expression levels across individuals for diverse tissues of the human body, with a broad sampling of normal, non-diseased human tissues from postmortem donors. In an Article, the consortium presents the deepest survey of gene expression across multiple tissues and individuals to date, encompassing 7,051 samples from 449 donors across 44 human tissues. They characterize the relationship between genetic variation and gene expression across tissues and individuals, and find that most genes are regulated by genetic variation near to the affected gene. In accompanying Letters, Alexis Battle, Stephen Montgomery and their colleagues examine the impact of rare genetic variation on gene expression across human tissues. Daniel MacArthur and his team systematically survey the landscape of X chromosome inactivation in human tissues. And Jin Billy Li and his colleagues provide a comprehensive cross-species analysis of adenosine-to-inosine RNA editing in mammals. In an accompanying News & Views, Michelle Ward and Yoav Gilad put the latest results in context and discuss how these findings are helping to crack the regulatory code of the human genome. Cover image: Concept design: Christine A. Dahl. Graphics: Norm Cyr, Science Illustrator, Department of Pathology, Stanford Medicine

This Week



World View


Research Highlights


Seven Days


News in Focus




  • The future of DNA sequencing

    Eric D. Green, Edward M. Rubin and Maynard V. Olson speculate on the next forty years of the applications, from policing to data storage.

  • Build on the outer space treaty

    Fifty years on, the agreement is being pushed to its limits by changing geopolitics, technology and commercial interests, warns Joan Johnson-Freese.

Books and Arts

  • Physics: A classical toolkit

    Malcolm Longair extols a long-heralded tome by Roger Blandford and 2017 Nobel laureate Kip Thorne.

    • Review of Modern Classical Physics: Optics, Fluids, Plasmas, Elasticity, Relativity, and Statistical Physics
      Kip S. Thorne & Roger D. Blandford
  • Chemistry: Explosive moments in the laboratory

    Mark Peplow surveys a gorgeous gala of reactions in Theodore Gray's new book.

    • Review of Reactions: An Illustrated Exploration of Elements, Molecules, and Change in the Universe
      Theodore Gray
  • Books in brief

    Barbara Kiser reviews five of the week's best science picks.





  • Writing takes work

    Professors and students alike can benefit from attending a writers' workshop, says Eli Lazarus.

    • Eli Lazarus

naturejobs job listings and advertising features



Outlook: Climate change

Produced with support from:


outline: Fatty liver disease





  • 天文学 : 星の掩蔽から求められた準惑星ハウメアのサイズ、形状、密度、環

    • J. L. Ortiz
    • P. Santos-Sanz
    • B. Sicardy
    • G. Benedetti-Rossi
    • D. Bテゥrard
    • N. Morales
    • R. Duffard
    • F. Braga-Ribas
    • U. Hopp
    • C. Ries
    • V. Nascimbeni
    • F. Marzari
    • V. Granata
    • A. Pテ。l
    • C. Kiss
    • T. Pribulla
    • R. Komナセテュk
    • K. Hornoch
    • P. Pravec
    • P. Bacci
    • M. Maestripieri
    • L. Nerli
    • L. Mazzei
    • M. Bachini
    • F. Martinelli
    • G. Succi
    • F. Ciabattari
    • H. Mikuz
    • A. Carbognani
    • B. Gaehrken
    • S. Mottola
    • S. Hellmich
    • F. L. Rommel
    • E. Fernテ。ndez-Valenzuela
    • A. Campo Bagatin
    • S. Cikota
    • A. Cikota
    • J. Lecacheux
    • R. Vieira-Martins
    • J. I. B. Camargo
    • M. Assafin
    • F. Colas
    • R. Behrend
    • J. Desmars
    • E. Meza
    • A. Alvarez-Candal
    • W. Beisker
    • A. R. Gomes-Junior
    • B. E. Morgado
    • F. Roques
    • F. Vachier
    • J. Berthier
    • T. G. Mueller
    • J. M. Madiedo
    • O. Unsalan
    • E. Sonbas
    • N. Karaman
    • O. Erece
    • D. T. Koseoglu
    • T. Ozisik
    • S. Kalkan
    • Y. Guney
    • M. S. Niaei
    • O. Satir
    • C. Yesilyaprak
    • C. Puskullu
    • A. Kabas
    • O. Demircan
    • J. Alikakos
    • V. Charmandaris
    • G. Leto
    • J. Ohlert
    • J. M. Christille
    • R. Szakテ。ts
    • A. Takテ。csnテゥ Farkas
    • E. Varga-Verebテゥlyi
    • G. Marton
    • A. Marciniak
    • P. Bartczak
    • T. Santana-Ros
    • M. Butkiewicz-Bト?
    • G. Dudziナгki
    • V. Alテュ-Lagoa
    • K. Gazeas
    • L. Tzouganatos
    • N. Paschalis
    • V. Tsamis
    • A. Sテ。nchez-Lavega
    • S. Pテゥrez-Hoyos
    • R. Hueso
    • J. C. Guirado
    • V. Peris
    • R. Iglesias-Marzoa

    Observations of a stellar occultation of Haumea, one of the four known trans-Neptunian dwarf planets, constrain its size, shape and density, and reveal a ring coplanar with Haumea窶冱 largest moon.

    See also
  • ゲノミクス : まれな変異が多数の組織にわたって遺伝子発現に及ぼす影響 open

    • Xin Li
    • Yungil Kim
    • Emily K. Tsang
    • Joe R. Davis
    • Farhan N. Damani
    • Colby Chiang
    • Gaelen T. Hess
    • Zachary Zappala
    • Benjamin J. Strober
    • Alexandra J. Scott
    • Amy Li
    • Andrea Ganna
    • Michael C. Bassik
    • Jason D. Merker
    • GTEx Consortium
    • Ira M. Hall
    • Alexis Battle
    • Stephen B. Montgomery

    The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.

    See also
    See also
    See also
    See also
  • ゲノミクス : 多数のヒト組織におけるX染色体不活性化の全体像 open

    • Taru Tukiainen
    • Alexandra-Chloテゥ 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
    • Franテァois Aguet
    • Andrea Byrnes
    • GTEx Consortium
    • Tuuli Lappalainen
    • Aviv Regev
    • Kristin G. Ardlie
    • Nir Hacohen
    • Daniel G. MacArthur

    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.

    See also
    See also
    See also
    See also
  • ゲノミクス : 哺乳類におけるRNA編集の動的な状況と調節

    • Meng How Tan
    • Qin Li
    • Raghuvaran Shanmugam
    • Robert Piskol
    • Jennefer Kohler
    • Amy N. Young
    • Kaiwen Ivy Liu
    • Rui Zhang
    • Gokul Ramaswami
    • Kentaro Ariyoshi
    • Ankita Gupte
    • Liam P. Keegan
    • Cyril X. George
    • Avinash Ramu
    • Ni Huang
    • Elizabeth A. Pollina
    • Dena S. Leeman
    • Alessandra Rustighi
    • Y. P. Sharon Goh
    • GTEx Consortium
    • Ajay Chawla
    • Giannino Del Sal
    • Gary Peltz
    • Anne Brunet
    • Donald F. Conrad
    • Charles E. Samuel
    • Mary A. O窶僂onnell
    • Carl R. Walkley
    • Kazuko Nishikura
    • Jin Billy Li

    Using the GTEx data and others, a comprehensive analysis of adenosine-to-inosine RNA editing in mammals is presented; targets of the various ADAR enzymes are identified, as are several potential regulators of editing, such as AIMP2.

    See also
    See also
    See also
    See also
  • 代謝 : 脳幹だけに存在するGDF15受容体を介して起こる非恒常的体重調節

    • Jer-Yuan Hsu
    • Suzanne Crawley
    • Michael Chen
    • Dina A. Ayupova
    • Darrin A. Lindhout
    • Jared Higbee
    • Alan Kutach
    • William Joo
    • Zhengyu Gao
    • Diana Fu
    • Carmen To
    • Kalyani Mondal
    • Betty Li
    • Avantika Kekatpure
    • Marilyn Wang
    • Teresa Laird
    • Geoffrey Horner
    • Jackie Chan
    • Michele McEntee
    • Manuel Lopez
    • Damodharan Lakshminarasimhan
    • Andre White
    • Sheng-Ping Wang
    • Jun Yao
    • Junming Yie
    • Hugo Matern
    • Mark Solloway
    • Raj Haldankar
    • Thomas Parsons
    • Jie Tang
    • Wenyan D. Shen
    • Yu Alice Chen
    • Hui Tian
    • Bernard B. Allan

    GDNF receptor alpha-like is a brainstem-restricted receptor for growth and differentiation factor 15, regulating appetite and body weight in non-homeostatic conditions by activating the emergency circuit response to disease and toxin stresses.

    See also
  • 生化学 : TOROIDがTORC1の活性を調節する

    • Manoテォl Prouteau
    • Ambroise Desfosses
    • Christian Sieben
    • Clテゥlia Bourgoint
    • Nour Lydia Mozaffari
    • Davide Demurtas
    • Alok K. Mitra
    • Paul Guichard
    • Suliana Manley
    • Robbie Loewith

    In budding yeast, glucose withdrawal, via the Rag GTPases, leads to TORC1 inhibition through its re-organization into a giant, vacuole-associated helix named a TOROID (TORC1 organized in inhibited domain).

  • がん : がんの薬剤依存性には、ERK2に依存した表現型転換が介在している

    • Xiangjun Kong
    • Thomas Kuilman
    • Aida Shahrabi
    • Julia Boshuizen
    • Kristel Kemper
    • Ji-Ying Song
    • Hans W. M. Niessen
    • Elisa A. Rozeman
    • Marnix H. Geukes Foppen
    • Christian U. Blank
    • Daniel S. Peeper

    The identification of an ERK2窶笛UNB窶擢RA1 signalling pathway that drives addiction to therapeutic drugs in cancer cells, and an ERK2-dependent phenotype switch that precedes cell death after drug withdrawal, may help to guide therapies that exploit the addiction phenotype.

    See also
  • 生物工学 : CRISPR–Cas13によるRNAの標的化

    • Omar O. Abudayyeh
    • Jonathan S. Gootenberg
    • Patrick Essletzbichler
    • Shuo Han
    • Julia Joung
    • Joseph J. Belanto
    • Vanessa Verdine
    • David B. T. Cox
    • Max J. Kellner
    • Aviv Regev
    • Eric S. Lander
    • Daniel F. Voytas
    • Alice Y. Ting
    • Feng Zhang

    The class 2 type VI RNA-guided RNA-targeting CRISPR窶鼎as effector Cas13 can be engineered for RNA knockdown and binding, expanding the CRISPR toolset with a flexible platform for studying RNA in mammalian cells and therapeutic development.