The complete sequence of a human Y chromosome.

Autor: 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.
Jazyk: angličtina
Zdroj: Nature [Nature] 2023 Sep; Vol. 621 (7978), pp. 344-354. Date of Electronic Publication: 2023 Aug 23.
DOI: 10.1038/s41586-023-06457-y
Abstrakt: 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.)
Databáze: MEDLINE
Externí odkaz: