학술논문

The complete sequence of a human Y chromosome.
Document Type
Academic Journal
Author
Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; 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.; Cechova M; Faculty of Informatics, Masaryk University, Brno, Czech Republic.; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; Hoyt SJ; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Taylor DJ; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Altemose N; Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA.; Hook PW; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; 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.; Allen J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Asri M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Bzikadze AV; Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, CA, USA.; Chen NC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Chin CS; GeneDX Holdings Corp, Stamford, CT, USA.; Foundation of Biological Data Science, Belmont, CA, USA.; Diekhans M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Department of Genetics, University of Cambridge, Cambridge, UK.; Formenti G; The Rockefeller University, New York, NY, USA.; Fungtammasan A; DNAnexus, Inc., Mountain View, CA, USA.; Garcia Giron C; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Gershman A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.; University of Kansas Medical Center, Kansas City, MO, USA.; Grady PGS; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Genomics Research Centre, Human Technopole, Milan, Italy.; Haggerty L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Halabian R; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.; 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.; Harris R; Department of Biology, Pennsylvania State University, University Park, PA, USA.; Hartley GA; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Haukness M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Heinz J; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Hourlier T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Hubley RM; Institute for Systems Biology, Seattle, WA, USA.; Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Hwang S; XDBio Program, Johns Hopkins University, Baltimore, MD, USA.; Jain M; Department of Bioengineering, Department of Physics, Northeastern University, Boston, MA, USA.; Kesharwani RK; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Li H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; 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.; Makalowski W; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.; Markovic C; Genome Technology Access Center at the McDonnell Genome Institute, Washington University, St. Louis, MO, USA.; Martin FJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Mc Cartney AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; McDaniel J; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.; 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.; 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.; Mikheenko A; Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.; UCL Queen Square Institute of Neurology, UCL, London, UK.; Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Murphy TD; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; 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.; Olson ND; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Paulin LF; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA.; Ryabov F; Masters Program in National Research University Higher School of Economics, Moscow, Russia.; Salzberg SL; Departments of Biomedical Engineering, Computer Science, and Biostatistics, Johns Hopkins University, Baltimore, MD, USA.; Sauria MEG; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; 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.; Shafin K; Google Inc., Mountain View, CA, USA.; Shepelev VA; Institute of Molecular Genetics, Moscow, Russia.; Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Storer JM; Institute for Systems Biology, Seattle, WA, USA.; Surapaneni L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Taravella Oill AM; Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.; Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Timp W; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Tomaszkiewicz M; Department of Biology, Pennsylvania State University, University Park, PA, USA.; Department of Biomedical Engineering, Pennsylvania State University, State College, PA, USA.; Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Walenz BP; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Watwood AC; Department of Biology, Pennsylvania State University, University Park, PA, USA.; Weissensteiner MH; Department of Biology, Pennsylvania State University, University Park, PA, USA.; Wenger AM; Pacific Biosciences, Menlo Park, CA, USA.; Wilson MA; Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.; Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Zhu Y; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; Zook JM; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.; 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.; 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.; Schatz MC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; 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.; Makova KD; Department of Biology, Pennsylvania State University, University Park, PA, USA.; 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.
Source
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
Subject
Language
English
Abstract
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 1-3 . As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished 4,5 . Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference, showing the complete ampliconic structures of gene families TSPY, DAZ and RBMY; 41 additional protein-coding genes, mostly from the TSPY family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region. We have combined T2T-Y with a previous assembly of the CHM13 genome 4 and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes.
(© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)