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Complete genomic and epigenetic maps of human centromeres.
Altemose, Nicolas; Logsdon, Glennis A; Bzikadze, Andrey V; Sidhwani, Pragya; Langley, Sasha A; Caldas, Gina V; Hoyt, Savannah J; Uralsky, Lev; Ryabov, Fedor D; Shew, Colin J; Sauria, Michael E G; Borchers, Matthew; Gershman, Ariel; Mikheenko, Alla; Shepelev, Valery A; Dvorkina, Tatiana; Kunyavskaya, Olga; Vollger, Mitchell R; Rhie, Arang; McCartney, Ann M; Asri, Mobin; Lorig-Roach, Ryan; Shafin, Kishwar; Lucas, Julian K; Aganezov, Sergey; Olson, Daniel; de Lima, Leonardo Gomes; Potapova, Tamara; Hartley, Gabrielle A; Haukness, Marina; Kerpedjiev, Peter; Gusev, Fedor; Tigyi, Kristof; Brooks, Shelise; Young, Alice; Nurk, Sergey; Koren, Sergey; Salama, Sofie R; Paten, Benedict; Rogaev, Evgeny I; Streets, Aaron; Karpen, Gary H; Dernburg, Abby F; Sullivan, Beth A; Straight, Aaron F; Wheeler, Travis J; Gerton, Jennifer L; Eichler, Evan E; Phillippy, Adam M; Timp, Winston.
Affiliation
  • Altemose N; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
  • Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Bzikadze AV; Graduate Program in Bioinformatics and Systems Biology, University of California San Diego, La Jolla, CA, USA.
  • Sidhwani P; Department of Biochemistry, Stanford University, Stanford, CA, USA.
  • Langley SA; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
  • Caldas GV; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
  • Hoyt SJ; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
  • Uralsky L; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Ryabov FD; Sirius University of Science and Technology, Sochi, Russia.
  • Shew CJ; Vavilov Institute of General Genetics, Moscow, Russia.
  • Sauria MEG; Moscow Polytechnic University, Moscow, Russia.
  • Borchers M; Genome Center, MIND Institute, and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, USA.
  • Gershman A; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
  • Mikheenko A; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Shepelev VA; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
  • Dvorkina T; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
  • Kunyavskaya O; Vavilov Institute of General Genetics, Moscow, Russia.
  • Vollger MR; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
  • Rhie A; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
  • McCartney AM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Asri M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Lorig-Roach R; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Shafin K; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Lucas JK; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Aganezov S; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Olson D; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • de Lima LG; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Potapova T; Department of Computer Science, University of Montana, Missoula, MT. USA.
  • Hartley GA; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Haukness M; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Kerpedjiev P; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
  • Gusev F; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
  • Tigyi K; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Brooks S; Reservoir Genomics, Oakland, CA.
  • Young A; Vavilov Institute of General Genetics, Moscow, Russia.
  • Nurk S; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Koren S; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Salama SR; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Paten B; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Rogaev EI; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Streets A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Karpen GH; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Dernburg AF; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Sullivan BA; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Straight AF; Department of Biomolecular Engineering, University of California Santa Cruz, CA, USA.
  • Wheeler TJ; Sirius University of Science and Technology, Sochi, Russia.
  • Gerton JL; Vavilov Institute of General Genetics, Moscow, Russia.
  • Eichler EE; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.
  • Phillippy AM; Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
  • Timp W; Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.
Science ; 376(6588): eabl4178, 2022 04.
Article in En | MEDLINE | ID: mdl-35357911
ABSTRACT
Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and functions, which include facilitating proper chromosome segregation. Now, a complete, telomere-to-telomere human genome assembly (T2T-CHM13) has enabled us to comprehensively characterize pericentromeric and centromeric repeats, which constitute 6.2% of the genome (189.9 megabases). Detailed maps of these regions revealed multimegabase structural rearrangements, including in active centromeric repeat arrays. Analysis of centromere-associated sequences uncovered a strong relationship between the position of the centromere and the evolution of the surrounding DNA through layered repeat expansions. Furthermore, comparisons of chromosome X centromeres across a diverse panel of individuals illuminated high degrees of structural, epigenetic, and sequence variation in these complex and rapidly evolving regions.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Centromere / Chromosome Mapping / Epigenesis, Genetic Limits: Humans Language: En Journal: Science Year: 2022 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Centromere / Chromosome Mapping / Epigenesis, Genetic Limits: Humans Language: En Journal: Science Year: 2022 Type: Article Affiliation country: United States