Complete genomic and epigenetic maps of human centromeres.

Centromere / genetics Chromosome Mapping Epigenesis, Genetic Evolution, Molecular Genome, Human Genomics Humans Repetitive Sequences, Nucleic Acid

Journal

Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511

Informations de publication

Date de publication:
04 2022
Historique:
entrez: 31 3 2022
pubmed: 1 4 2022
medline: 6 4 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1126/science.abl4178 PMID: 35357911 PMC: PMC9233505
pubmed: 35357911
doi: 10.1126/science.abl4178
pmc: PMC9233505
mid: NIHMS1805246
doi:

Types de publication

Journal Article Research Support, N.I.H., Intramural Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

eabl4178

Subventions

Organisme : NHGRI NIH HHS
ID : U24 HG010263
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010961
Pays : United States
Organisme : NIMH NIH HHS
ID : DP2 MH119424
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM139653
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA240199
Pays : United States
Organisme : NIH HHS
ID : OT2 OD026682
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM074728
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA238758
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Organisme : NIGMS NIH HHS
ID : P20 GM103546
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM132600
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM124041
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007445
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG010972
Pays : United States
Organisme : NHGRI NIH HHS
ID : F31 HG011205
Pays : United States
Organisme : NIGMS NIH HHS
ID : F32 GM134558
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010169
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM129263
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG007234
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA253481
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007234
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011274
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG006620
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002939
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG054712
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG010136
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010329
Pays : United States
Organisme : NHGRI NIH HHS
ID : R21 HG010548
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG011853
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM123312
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009190
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM117420
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010485
Pays : United States
Organisme : NIDDK NIH HHS
ID : R24 DK106766
Pays : United States

Commentaires et corrections

Type : CommentIn

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Auteurs

Nicolas Altemose (N)

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

Glennis A Logsdon (GA)

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

Andrey V Bzikadze (AV)

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

Pragya Sidhwani (P)

Department of Biochemistry, Stanford University, Stanford, CA, USA.
ORCID: 0000-0002-5292-6740

Sasha A Langley (SA)

Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.

Gina V Caldas (GV)

Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.

Savannah J Hoyt (SJ)

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

Lev Uralsky (L)

Sirius University of Science and Technology, Sochi, Russia.
Vavilov Institute of General Genetics, Moscow, Russia.
ORCID: 0000-0002-5565-7961

Fedor D Ryabov (FD)

Moscow Polytechnic University, Moscow, Russia.
ORCID: 0000-0001-8728-9465

Colin J Shew (CJ)

Genome Center, MIND Institute, and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, USA.

Michael E G Sauria (MEG)

Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0001-5556-9446

Matthew Borchers (M)

Stowers Institute for Medical Research, Kansas City, MO, USA.
ORCID: 0000-0001-5903-3489

Ariel Gershman (A)

Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0001-8899-8781

Alla Mikheenko (A)

Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.

Valery A Shepelev (VA)

Vavilov Institute of General Genetics, Moscow, Russia.

Tatiana Dvorkina (T)

Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.

Olga Kunyavskaya (O)

Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
ORCID: 0000-0001-9544-6344

Mitchell R Vollger (MR)

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

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

Ann M McCartney (AM)

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

Mobin Asri (M)

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

Ryan Lorig-Roach (R)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
ORCID: 0000-0002-8183-9611

Kishwar Shafin (K)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
ORCID: 0000-0001-5252-3434

Julian K Lucas (JK)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
ORCID: 0000-0001-9163-2756

Sergey Aganezov (S)

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
ORCID: 0000-0003-2458-8323

Daniel Olson (D)

Department of Computer Science, University of Montana, Missoula, MT. USA.
ORCID: 0000-0002-3681-5944

Leonardo Gomes de Lima (LG)

Stowers Institute for Medical Research, Kansas City, MO, USA.
ORCID: 0000-0001-6340-6065

Tamara Potapova (T)

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

Gabrielle A Hartley (GA)

Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.

Marina Haukness (M)

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

Peter Kerpedjiev (P)

Reservoir Genomics, Oakland, CA.

Fedor Gusev (F)

Vavilov Institute of General Genetics, Moscow, Russia.
ORCID: 0000-0001-9859-4721

Kristof Tigyi (K)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Howard Hughes Medical Institute, Chevy Chase, MD, USA.

Shelise Brooks (S)

NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Alice Young (A)

NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0003-0549-9261

Sergey Nurk (S)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0003-1301-5749

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

Sofie R Salama (SR)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Howard Hughes Medical Institute, Chevy Chase, MD, USA.
ORCID: 0000-0001-6999-7193

Benedict Paten (B)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Department of Biomolecular Engineering, University of California Santa Cruz, CA, USA.
ORCID: 0000-0001-8863-3539

Evgeny I Rogaev (EI)

Sirius University of Science and Technology, Sochi, Russia.
Vavilov Institute of General Genetics, Moscow, Russia.
Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.
Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.

Aaron Streets (A)

Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.
Chan Zuckerberg Biohub, San Francisco, CA, USA.
ORCID: 0000-0002-3909-8389

Gary H Karpen (GH)

Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
BioEngineering and BioMedical Sciences Department, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
ORCID: 0000-0003-1534-0385

Abby F Dernburg (AF)

Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
Howard Hughes Medical Institute, Chevy Chase, MD, USA.
Institute for Quantitative Biosciences (QB3), University of California, Berkeley, Berkeley, CA, USA.

Beth A Sullivan (BA)

Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.
ORCID: 0000-0001-5216-4603

Aaron F Straight (AF)

Department of Biochemistry, Stanford University, Stanford, CA, USA.
ORCID: 0000-0001-5885-7881

Travis J Wheeler (TJ)

Department of Computer Science, University of Montana, Missoula, MT. USA.
ORCID: 0000-0003-2004-1785

Jennifer L Gerton (JL)

Stowers Institute for Medical Research, Kansas City, MO, USA.
University of Kansas Medical School, Department of Biochemistry and Molecular Biology and Cancer Center, University of Kansas, Kansas City, KS, USA.
ORCID: 0000-0003-0743-3637

Evan E Eichler (EE)

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

Adam M Phillippy (AM)

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

Winston Timp (W)

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

Megan Y Dennis (MY)

Genome Center, MIND Institute, and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, USA.
ORCID: 0000-0002-8502-5420

Rachel J O'Neill (RJ)

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

Justin M Zook (JM)

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

Michael C Schatz (MC)

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

Pavel A Pevzner (PA)

Department of Computer Science and Engineering, University of California at San Diego, San Diego, CA, USA.
ORCID: 0000-0002-0418-165X

Mark Diekhans (M)

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

Charles H Langley (CH)

Department of Evolution and Ecology, University of California Davis, Davis, CA, USA.

Ivan A Alexandrov (IA)

Vavilov Institute of General Genetics, Moscow, Russia.
Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.
ORCID: 0000-0003-4342-2003

Karen H Miga (KH)

UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Department of Biomolecular Engineering, University of California Santa Cruz, CA, USA.
ORCID: 0000-0001-9709-4565

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Structures de chromosome › Centromère › Complete genomic and epigenetic maps of human...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Cartographie chromosomique › Complete genomic and epigenetic maps of human...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Complete genomic and epigenetic maps of human...
questionsmedicales.fr › Phénomènes biologiques › Évolution biologique › Évolution moléculaire › Complete genomic and epigenetic maps of human...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Génome humain › Complete genomic and epigenetic maps of human...
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › Complete genomic and epigenetic maps of human...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Complete genomic and epigenetic maps of human...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Séquences répétées d'acides nucléiques › Complete genomic and epigenetic maps of human...