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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

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. LockeORCID; Suganthi Balasubramanian; Ashish Yadav; Nilanjana Banerjee; Christopher E. Gillies; Amy Damask; Simon Liu; Xiaodong Bai; Alicia Hawes; Evan Maxwell; Lauren Gurski; Kyoko WatanabeORCID; Jack A. Kosmicki; Veera Rajagopal; Jason Mighty; Marcus Jones; Lyndon Mitnaul; Eli Stahl; Giovanni CoppolaORCID; Eric JorgensonORCID; Lukas Habegger; William J. Salerno; Alan R. Shuldiner; Luca A. Lotta; John D. Overton; Michael N. CantorORCID; Jeffrey G. ReidORCID; George Yancopoulos; Hyun M. Kang; Jonathan MarchiniORCID; Aris BarasORCID; Gonçalo R. Abecasis; Manuel A. R. FerreiraORCID; ;

<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 AlvaradoORCID; Jack Goffinet; Valerie Michael; William Liberti; Jordan HatfieldORCID; Timothy GardnerORCID; John PearsonORCID; Richard MooneyORCID

Palabras clave: Multidisciplinary.

Pp. 635-639

A human-specific modifier of cortical connectivity and circuit function

Ewoud R. E. SchmidtORCID; Hanzhi T. ZhaoORCID; Jung M. Park; Mario Dipoppa; Mauro M. Monsalve-Mercado; Jacob B. Dahan; Chris C. Rodgers; Amélie Lejeune; Elizabeth M. C. HillmanORCID; Kenneth D. Miller; Randy M. Bruno; Franck PolleuxORCID

Palabras clave: Multidisciplinary.

Pp. 640-644

Striatal indirect pathway mediates exploration via collicular competition

Jaeeon Lee; Bernardo L. SabatiniORCID

Palabras clave: Multidisciplinary.

Pp. 645-649

Disruption of mitochondrial complex I induces progressive parkinsonism

Patricia González-RodríguezORCID; Enrico ZampeseORCID; Kristen A. Stout; Jaime N. Guzman; Ema Ilijic; Ben YangORCID; Tatiana Tkatch; Mihaela A. Stavarache; David L. Wokosin; Lin GaoORCID; Michael G. Kaplitt; José López-Barneo; Paul T. SchumackerORCID; D. James SurmeierORCID

Palabras clave: Multidisciplinary.

Pp. 650-656

Cold-induced Arabidopsis FRIGIDA nuclear condensates for FLC repression

Pan ZhuORCID; Clare Lister; Caroline DeanORCID

<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 JovasevicORCID; DongHo Kim; Himanshu Kharkwal; Duncan W. Wilson; Derek WalshORCID; Patricia J. SollarsORCID; Gary E. Pickard; Jeffrey N. SavasORCID; Gregory A. SmithORCID

Palabras clave: Multidisciplinary.

Pp. 662-666

Early-life inflammation primes a T helper 2 cell–fibroblast niche in skin

Ian C. BoothbyORCID; 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. MolofskyORCID; Michael D. RosenblumORCID

Palabras clave: Multidisciplinary.

Pp. 667-672

Tumour DDR1 promotes collagen fibre alignment to instigate immune exclusion

Xiujie Sun; Bogang WuORCID; Huai-Chin ChiangORCID; Hui Deng; Xiaowen Zhang; Wei Xiong; Junquan Liu; Aaron M. Rozeboom; Brent T. Harris; Eline BlommaertORCID; Antonio GomezORCID; Roderic Espin GarciaORCID; Yufan ZhouORCID; Payal Mitra; Madeleine Prevost; Deyi Zhang; Debarati Banik; Claudine Isaacs; Deborah Berry; Catherine Lai; Krysta Chaldekas; Patricia S. LathamORCID; Christine A. Brantner; Anastas Popratiloff; Victor X. JinORCID; Ningyan ZhangORCID; Yanfen Hu; Miguel Angel PujanaORCID; Tyler J. CurielORCID; Zhiqiang AnORCID; Rong LiORCID

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 LucasORCID; Trang T. Mai; Arnaud F. Da Cruz Paula; Anne Y. SaikiORCID; 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. LoomisORCID; Elisa de Stanchina; Jorge S. Reis-FilhoORCID; Britta WeigeltORCID; Michael BergerORCID; Gregory Riely; Kathryn C. Arbour; J. Russell Lipford; Bob T. LiORCID; Piro LitoORCID

Palabras clave: Multidisciplinary.

Pp. 679-683