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Nature
Resumen/Descripción – provisto por la editorial en inglés
Nature is a weekly international journal publishing the finest peer-reviewed research in all fields of science and technology on the basis of its originality, importance, interdisciplinary interest, timeliness, accessibility, elegance and surprising conclusions. Nature also provides rapid, authoritative, insightful and arresting news and interpretation of topical and coming trends affecting science, scientists and the wider public.Palabras clave – provistas por la editorial
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Información
Tipo de recurso:
revistas
ISSN impreso
0028-0836
ISSN electrónico
1476-4687
Editor responsable
Springer Nature
País de edición
Reino Unido
Fecha de publicación
1869-
Tabla de contenidos
Exome sequencing and analysis of 454,787 UK Biobank participants
Joshua D. Backman; Alexander H. Li; Anthony Marcketta; Dylan Sun; Joelle Mbatchou; Michael D. Kessler; Christian Benner; Daren Liu; Adam E. Locke
; Suganthi Balasubramanian; Ashish Yadav; Nilanjana Banerjee; Christopher E. Gillies; Amy Damask; Simon Liu; Xiaodong Bai; Alicia Hawes; Evan Maxwell; Lauren Gurski; Kyoko Watanabe
; Jack A. Kosmicki; Veera Rajagopal; Jason Mighty; Marcus Jones; Lyndon Mitnaul; Eli Stahl; Giovanni Coppola
; Eric Jorgenson
; Lukas Habegger; William J. Salerno; Alan R. Shuldiner; Luca A. Lotta; John D. Overton; Michael N. Cantor
; Jeffrey G. Reid
; George Yancopoulos; Hyun M. Kang; Jonathan Marchini
; Aris Baras
; Gonçalo R. Abecasis; Manuel A. R. Ferreira
; ;
<jats:title>Abstract</jats:title><jats:p>A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing<jats:sup>1</jats:sup> to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study<jats:sup>2</jats:sup>. We identified 12 million coding variants, including around 1 million loss-of-function and around 1.8 million deleterious missense variants. When these were tested for association with 3,994 health-related traits, we found 564 genes with trait associations at <jats:italic>P</jats:italic> ≤ 2.18 × 10<jats:sup>−11</jats:sup>. Rare variant associations were enriched in loci from genome-wide association studies (GWAS), but most (91%) were independent of common variant signals. We discovered several risk-increasing associations with traits related to liver disease, eye disease and cancer, among others, as well as risk-lowering associations for hypertension (<jats:italic>SLC9A3R2</jats:italic>), diabetes (<jats:italic>MAP3K15</jats:italic>, <jats:italic>FAM234A</jats:italic>) and asthma (<jats:italic>SLC27A3</jats:italic>). Six genes were associated with brain imaging phenotypes, including two involved in neural development (<jats:italic>GBE1</jats:italic>, <jats:italic>PLD1</jats:italic>). Of the signals available and powered for replication in an independent cohort, 81% were confirmed; furthermore, association signals were generally consistent across individuals of European, Asian and African ancestry. We illustrate the ability of exome sequencing to identify gene–trait associations, elucidate gene function and pinpoint effector genes that underlie GWAS signals at scale.</jats:p>
Palabras clave: Multidisciplinary.
Pp. 628-634
Neural dynamics underlying birdsong practice and performance
Jonnathan Singh Alvarado
; Jack Goffinet; Valerie Michael; William Liberti; Jordan Hatfield
; Timothy Gardner
; John Pearson
; Richard Mooney![ORCID](/img/logos/orcid.svg)
Palabras clave: Multidisciplinary.
Pp. 635-639
A human-specific modifier of cortical connectivity and circuit function
Ewoud R. E. Schmidt
; Hanzhi T. Zhao
; Jung M. Park; Mario Dipoppa; Mauro M. Monsalve-Mercado; Jacob B. Dahan; Chris C. Rodgers; Amélie Lejeune; Elizabeth M. C. Hillman
; Kenneth D. Miller; Randy M. Bruno; Franck Polleux![ORCID](/img/logos/orcid.svg)
Palabras clave: Multidisciplinary.
Pp. 640-644
Striatal indirect pathway mediates exploration via collicular competition
Jaeeon Lee; Bernardo L. Sabatini![ORCID](/img/logos/orcid.svg)
Palabras clave: Multidisciplinary.
Pp. 645-649
Disruption of mitochondrial complex I induces progressive parkinsonism
Patricia González-Rodríguez
; Enrico Zampese
; Kristen A. Stout; Jaime N. Guzman; Ema Ilijic; Ben Yang
; Tatiana Tkatch; Mihaela A. Stavarache; David L. Wokosin; Lin Gao
; Michael G. Kaplitt; José López-Barneo; Paul T. Schumacker
; D. James Surmeier![ORCID](/img/logos/orcid.svg)
Palabras clave: Multidisciplinary.
Pp. 650-656
Cold-induced Arabidopsis FRIGIDA nuclear condensates for FLC repression
Pan Zhu
; Clare Lister; Caroline Dean![ORCID](/img/logos/orcid.svg)
<jats:title>Abstract</jats:title><jats:p>Plants use seasonal temperature cues to time the transition to reproduction. In <jats:italic>Arabidopsis thaliana</jats:italic>, winter cold epigenetically silences the floral repressor locus <jats:italic>FLOWERING LOCUS C</jats:italic> (<jats:italic>FLC</jats:italic>) through POLYCOMB REPRESSIVE COMPLEX 2 (PRC2)<jats:sup>1</jats:sup>. This vernalization process aligns flowering with spring. A prerequisite for silencing is transcriptional downregulation of <jats:italic>FLC</jats:italic>, but how this occurs in the fluctuating temperature regimes of autumn is unknown<jats:sup>2–4</jats:sup>. Transcriptional repression correlates with decreased local levels of histone H3 trimethylation at K36 (H3K36me3) and H3 trimethylation at K4 (H3K4me3)<jats:sup>5,6</jats:sup>, which are deposited during FRIGIDA (FRI)-dependent activation of <jats:italic>FLC</jats:italic><jats:sup>7–10</jats:sup>. Here we show that cold rapidly promotes the formation of FRI nuclear condensates that do not colocalize with an active <jats:italic>FLC</jats:italic> locus. This correlates with reduced FRI occupancy at the <jats:italic>FLC</jats:italic> promoter and <jats:italic>FLC</jats:italic> repression. Warm temperature spikes reverse this process, buffering <jats:italic>FLC</jats:italic> shutdown to prevent premature flowering. The accumulation of condensates in the cold is affected by specific co-transcriptional regulators and cold induction of a specific isoform of the antisense RNA <jats:italic>COOLAIR</jats:italic><jats:sup>5,11</jats:sup>. Our work describes the dynamic partitioning of a transcriptional activator conferring plasticity in response to natural temperature fluctuations, thus enabling plants to effectively monitor seasonal progression.</jats:p>
Palabras clave: Multidisciplinary.
Pp. 657-661
Herpesviruses assimilate kinesin to produce motorized viral particles
Caitlin E. Pegg; Sofia V. Zaichick; Ewa Bomba-Warczak; Vladimir Jovasevic
; DongHo Kim; Himanshu Kharkwal; Duncan W. Wilson; Derek Walsh
; Patricia J. Sollars
; Gary E. Pickard; Jeffrey N. Savas
; Gregory A. Smith![ORCID](/img/logos/orcid.svg)
Palabras clave: Multidisciplinary.
Pp. 662-666
Early-life inflammation primes a T helper 2 cell–fibroblast niche in skin
Ian C. Boothby
; Maxime J. Kinet; Devi P. Boda; Elaine Y. Kwan; Sean Clancy; Jarish N. Cohen; Ireneusz Habrylo; Margaret M. Lowe; Mariela Pauli; Ashley E. Yates; Jamie D. Chan; Hobart W. Harris; Isaac M. Neuhaus; Timothy H. McCalmont; Ari B. Molofsky
; Michael D. Rosenblum![ORCID](/img/logos/orcid.svg)
Palabras clave: Multidisciplinary.
Pp. 667-672
Tumour DDR1 promotes collagen fibre alignment to instigate immune exclusion
Xiujie Sun; Bogang Wu
; Huai-Chin Chiang
; Hui Deng; Xiaowen Zhang; Wei Xiong; Junquan Liu; Aaron M. Rozeboom; Brent T. Harris; Eline Blommaert
; Antonio Gomez
; Roderic Espin Garcia
; Yufan Zhou
; Payal Mitra; Madeleine Prevost; Deyi Zhang; Debarati Banik; Claudine Isaacs; Deborah Berry; Catherine Lai; Krysta Chaldekas; Patricia S. Latham
; Christine A. Brantner; Anastas Popratiloff; Victor X. Jin
; Ningyan Zhang
; Yanfen Hu; Miguel Angel Pujana
; Tyler J. Curiel
; Zhiqiang An
; Rong Li![ORCID](/img/logos/orcid.svg)
Palabras clave: Multidisciplinary.
Pp. 673-678
Diverse alterations associated with resistance to KRAS(G12C) inhibition
Yulei Zhao; Yonina R. Murciano-Goroff; Jenny Y. Xue; Agnes Ang; Jessica Lucas
; Trang T. Mai; Arnaud F. Da Cruz Paula; Anne Y. Saiki
; Deanna Mohn; Pragathi Achanta; Ann E. Sisk; Kanika S. Arora; Rohan S. Roy; Dongsung Kim; Chuanchuan Li; Lee P. Lim; Mark Li; Amber Bahr; Brian R. Loomis
; Elisa de Stanchina; Jorge S. Reis-Filho
; Britta Weigelt
; Michael Berger
; Gregory Riely; Kathryn C. Arbour; J. Russell Lipford; Bob T. Li
; Piro Lito![ORCID](/img/logos/orcid.svg)
Palabras clave: Multidisciplinary.
Pp. 679-683