Table of Contents

Volume 550 Number 7675 pp158-294

12 October 2017

About the cover

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

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  • The size, shape, density and ring of the dwarf planet Haumea from a stellar occultation

    • J. L. Ortiz
    • P. Santos-Sanz
    • B. Sicardy
    • G. Benedetti-Rossi
    • D. Bérard
    • N. Morales
    • R. Duffard
    • F. Braga-Ribas
    • U. Hopp
    • C. Ries
    • V. Nascimbeni
    • F. Marzari
    • V. Granata
    • A. Pál
    • C. Kiss
    • T. Pribulla
    • R. Komžík
    • 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. Fernández-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. Szakáts
    • A. Takácsné Farkas
    • E. Varga-Verebélyi
    • G. Marton
    • A. Marciniak
    • P. Bartczak
    • T. Santana-Ros
    • M. Butkiewicz-Bąk
    • G. Dudziński
    • V. Alí-Lagoa
    • K. Gazeas
    • L. Tzouganatos
    • N. Paschalis
    • V. Tsamis
    • A. Sánchez-Lavega
    • S. Pérez-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’s largest moon.

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  • Light-field-driven currents in graphene

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    • Christian Heide
    • Konrad Ullmann
    • Heiko B. Weber
    • Peter Hommelhoff

    Light-field-driven control of electrons in a conductor is demonstrated by inducing a current by laser pulses in graphene that is sensitive to the carrier-envelope phase.

  • Patchy particles made by colloidal fusion

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    • Theodore Hueckel
    • Gi-Ra Yi
    • Stefano Sacanna

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  • The impact of rare variation on gene expression across tissuesOpen

    • 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
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    See also
    See also
  • Landscape of X chromosome inactivation across human tissuesOpen

    • 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
    • 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.

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  • Dynamic landscape and regulation of RNA editing in mammals

    • 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’Connell
    • 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.

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  • Non-homeostatic body weight regulation through a brainstem-restricted receptor for GDF15

    • 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.

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  • Hippo pathway deficiency reverses systolic heart failure after infarction

    • John P. Leach
    • Todd Heallen
    • Min Zhang
    • Mahdis Rahmani
    • Yuka Morikawa
    • Matthew C. Hill
    • Ana Segura
    • James T. Willerson
    • James F. Martin

    Deletion of the Hippo pathway component Salvador in mouse hearts with established ischaemic heart failure after myocardial infarction induces a reparative genetic program with increased scar border vascularity, reduced fibrosis, and recovery of pumping function.

  • TORC1 organized in inhibited domains (TOROIDs) regulate TORC1 activity

    • Manoël Prouteau
    • Ambroise Desfosses
    • Christian Sieben
    • Clélia 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).

  • Cancer drug addiction is relayed by an ERK2-dependent phenotype switch

    • 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–JUNB–FRA1 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
  • RNA targeting with CRISPR–Cas13

    • 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–Cas 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.