The complete sequence of a human Y chromosome.

Humans Base Sequence Chromosomes, Human, Y / genetics DNA, Satellite / genetics Genetic Variation / genetics Genetics, Population Genomics / methods Heterochromatin / genetics Multigene Family / genetics Reference Standards Segmental Duplications, Genomic / genetics Sequence Analysis, DNA / standards Tandem Repeat Sequences / genetics Telomere / genetics

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
Sep 2023
Historique:
received: 02 12 2022
accepted: 19 07 2023
medline: 15 9 2023
pubmed: 24 8 2023
entrez: 23 8 2023
Statut: ppublish

Résumé

The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications

Identifiants

DOI: 10.1038/s41586-023-06457-y PMID: 37612512
pubmed: 37612512
doi: 10.1038/s41586-023-06457-y
pii: 10.1038/s41586-023-06457-y
doi:

Substances chimiques

DNA, Satellite 0
Heterochromatin 0
TSPY1 protein, human 0
RBMY1A1 protein, human 0
DAZ1 protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

344-354

Subventions

Organisme : NHGRI NIH HHS
ID : U41 HG010972
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011274
Pays : United States
Organisme : NHGRI NIH HHS
ID : R21 HG010548
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG006620
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010169
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM072264
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States

Informations de copyright

© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.

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Auteurs

Arang Rhie (A)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0002-9809-8127

Sergey Nurk (S)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Oxford Nanopore Technologies Inc., Oxford, UK.

Monika Cechova (M)

Faculty of Informatics, Masaryk University, Brno, Czech Republic.
Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.

Savannah J Hoyt (SJ)

Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
ORCID: 0000-0001-7804-3236

Dylan J Taylor (DJ)

Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0001-5806-4494

Nicolas Altemose (N)

Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA.
ORCID: 0000-0002-7231-6026

Paul W Hook (PW)

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0002-3912-1999

Sergey Koren (S)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0002-1472-8962

Mikko Rautiainen (M)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Ivan A Alexandrov (IA)

Federal Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.
Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.
Department of Anatomy and Anthropology and Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo, Israel.

Jamie Allen (J)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0002-8677-2225

Mobin Asri (M)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.

Andrey V Bzikadze (AV)

Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, CA, USA.
ORCID: 0000-0002-7928-7950

Nae-Chyun Chen (NC)

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.

Chen-Shan Chin (CS)

GeneDX Holdings Corp, Stamford, CT, USA.
Foundation of Biological Data Science, Belmont, CA, USA.
ORCID: 0000-0003-4394-2455

Mark Diekhans (M)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
ORCID: 0000-0002-0430-0989

Paul Flicek (P)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Department of Genetics, University of Cambridge, Cambridge, UK.

Giulio Formenti (G)

The Rockefeller University, New York, NY, USA.

Arkarachai Fungtammasan (A)

DNAnexus, Inc., Mountain View, CA, USA.
ORCID: 0000-0003-2398-0358

Carlos Garcia Giron (C)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Erik Garrison (E)

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
ORCID: 0000-0003-3821-631X

Ariel Gershman (A)

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.

Jennifer L Gerton (JL)

Stowers Institute for Medical Research, Kansas City, MO, USA.
University of Kansas Medical Center, Kansas City, MO, USA.
ORCID: 0000-0003-0743-3637

Patrick G S Grady (PGS)

Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.

Andrea Guarracino (A)

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Genomics Research Centre, Human Technopole, Milan, Italy.
ORCID: 0000-0001-9744-131X

Leanne Haggerty (L)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Reza Halabian (R)

Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.

Nancy F Hansen (NF)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0002-0950-0699

Robert Harris (R)

Department of Biology, Pennsylvania State University, University Park, PA, USA.

Gabrielle A Hartley (GA)

Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.

William T Harvey (WT)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Marina Haukness (M)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
ORCID: 0000-0001-9991-8089

Jakob Heinz (J)

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.

Thibaut Hourlier (T)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0003-4894-7773

Robert M Hubley (RM)

Institute for Systems Biology, Seattle, WA, USA.

Sarah E Hunt (SE)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0002-8350-1235

Stephen Hwang (S)

XDBio Program, Johns Hopkins University, Baltimore, MD, USA.

Miten Jain (M)

Department of Bioengineering, Department of Physics, Northeastern University, Boston, MA, USA.
ORCID: 0000-0002-4571-3982

Rupesh K Kesharwani (RK)

Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.

Alexandra P Lewis (AP)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Heng Li (H)

Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.

Glennis A Logsdon (GA)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0003-2396-0656

Julian K Lucas (JK)

Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.

Wojciech Makalowski (W)

Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.
ORCID: 0000-0003-2303-9541

Christopher Markovic (C)

Genome Technology Access Center at the McDonnell Genome Institute, Washington University, St. Louis, MO, USA.

Fergal J Martin (FJ)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0002-1672-050X

Ann M Mc Cartney (AM)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Rajiv C McCoy (RC)

Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0003-0615-146X

Jennifer McDaniel (J)

Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.

Brandy M McNulty (BM)

Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.

Paul Medvedev (P)

Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA, USA.
Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA, USA.
Center for Computational Biology and Bioinformatics, Pennsylvania State University, University Park, PA, USA.

Alla Mikheenko (A)

Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.
UCL Queen Square Institute of Neurology, UCL, London, UK.

Katherine M Munson (KM)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0001-8413-6498

Terence D Murphy (TD)

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0001-9311-9745

Hugh E Olsen (HE)

Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.

Nathan D Olson (ND)

Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.

Luis F Paulin (LF)

Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
ORCID: 0000-0003-2567-3773

David Porubsky (D)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0001-8414-8966

Tamara Potapova (T)

Stowers Institute for Medical Research, Kansas City, MO, USA.
ORCID: 0000-0003-2761-1795

Fedor Ryabov (F)

Masters Program in National Research University Higher School of Economics, Moscow, Russia.
ORCID: 0000-0001-8728-9465

Steven L Salzberg (SL)

Departments of Biomedical Engineering, Computer Science, and Biostatistics, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0002-8859-7432

Michael E G Sauria (MEG)

Department of Biology, Johns Hopkins University, Baltimore, MD, USA.

Fritz J Sedlazeck (FJ)

Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Department of Computer Science, Rice University, Houston, TX, USA.
ORCID: 0000-0001-6040-2691

Kishwar Shafin (K)

Google Inc., Mountain View, CA, USA.
ORCID: 0000-0001-5252-3434

Valery A Shepelev (VA)

Institute of Molecular Genetics, Moscow, Russia.

Alaina Shumate (A)

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.

Jessica M Storer (JM)

Institute for Systems Biology, Seattle, WA, USA.

Likhitha Surapaneni (L)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Angela M Taravella Oill (AM)

Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.

Françoise Thibaud-Nissen (F)

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0003-4957-7807

Winston Timp (W)

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0003-2083-6027

Marta Tomaszkiewicz (M)

Department of Biology, Pennsylvania State University, University Park, PA, USA.
Department of Biomedical Engineering, Pennsylvania State University, State College, PA, USA.
ORCID: 0000-0003-1523-200X

Mitchell R Vollger (MR)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0002-8651-1615

Brian P Walenz (BP)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0001-8431-1428

Allison C Watwood (AC)

Department of Biology, Pennsylvania State University, University Park, PA, USA.

Matthias H Weissensteiner (MH)

Department of Biology, Pennsylvania State University, University Park, PA, USA.

Aaron M Wenger (AM)

Pacific Biosciences, Menlo Park, CA, USA.

Melissa A Wilson (MA)

Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.

Samantha Zarate (S)

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0001-5570-2059

Yiming Zhu (Y)

Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.

Justin M Zook (JM)

Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
ORCID: 0000-0003-2309-8402

Evan E Eichler (EE)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Investigator, Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
ORCID: 0000-0002-8246-4014

Rachel J O'Neill (RJ)

Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA.
ORCID: 0000-0002-1525-6821

Michael C Schatz (MC)

Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0002-4118-4446

Karen H Miga (KH)

Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
ORCID: 0000-0002-3670-4507

Kateryna D Makova (KD)

Department of Biology, Pennsylvania State University, University Park, PA, USA.

Adam M Phillippy (AM)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. adam.phillippy@nih.gov.
ORCID: 0000-0003-2983-8934

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Séquence nucléotidique › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes sexuels › Chromosome Y › Chromosomes Y humains › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Séquences répétées en tandem › ADN satellite › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génétique des populations › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Structures de chromosome › Chromatine › Hétérochromatine › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Famille multigénique › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Techniques d'investigation › Poids et mesures › Normes de référence › The complete sequence of a human Y chromosome.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Séquences répétées d'acides nucléiques › Duplications génomiques segmentaires › The complete sequence of a human Y chromosome.
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