Complete genomic and epigenetic maps of human centromeres

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Complete genomic and epigenetic maps of human centromeres. / T2T consortium.

в: Science, Том 376, № 6588, eabl4178, 01.04.2022.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

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T2T consortium. / Complete genomic and epigenetic maps of human centromeres. в: Science. 2022 ; Том 376, № 6588.

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@article{0f837581396e437f97e0b788ff7edc38,

title = "Complete genomic and epigenetic maps of human centromeres",

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.",

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

author = "{T2T consortium} and Nicolas Altemose and Logsdon, {Glennis A.} and Bzikadze, {Andrey V.} and Pragya Sidhwani and Langley, {Sasha A.} and Caldas, {Gina V.} and Hoyt, {Savannah J.} and Lev Uralsky and Ryabov, {Fedor D.} and Shew, {Colin J.} and Sauria, {Michael E. G.} and Matthew Borchers and Ariel Gershman and Alla Mikheenko and Shepelev, {Valery A.} and Tatiana Dvorkina and Olga Kunyavskaya and Vollger, {Mitchell R.} and Arang Rhie and McCartney, {Ann M.} and Mobin Asri and Ryan Lorig-Roach and Kishwar Shafin and Lucas, {Julian K.} and Sergey Aganezov and Daniel Olson and {de Lima}, {Leonardo Gomes} and Tamara Potapova and Hartley, {Gabrielle A.} and Marina Haukness and Peter Kerpedjiev and Fedor Gusev and Kristof Tigyi and Shelise Brooks and Alice Young and Sergey Nurk and Sergey Koren and Salama, {Sofie R.} and Benedict Paten and Rogaev, {Evgeny I.} and Aaron Streets and Karpen, {Gary H.} and Dernburg, {Abby F.} and Sullivan, {Beth A.} and Straight, {Aaron F.} and Wheeler, {Travis J.} and Gerton, {Jennifer L.} and Eichler, {Evan E.} and Phillippy, {Adam M.} and Winston Timp",

note = "Publisher Copyright: Copyright {\textcopyright} 2022 The Authors",

year = "2022",

month = apr,

day = "1",

doi = "10.1126/science.abl4178",

language = "English",

volume = "376",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "6588",

}

RIS

TY - JOUR

T1 - Complete genomic and epigenetic maps of human centromeres

AU - T2T consortium

AU - Altemose, Nicolas

AU - Logsdon, Glennis A.

AU - Bzikadze, Andrey V.

AU - Sidhwani, Pragya

AU - Langley, Sasha A.

AU - Caldas, Gina V.

AU - Hoyt, Savannah J.

AU - Uralsky, Lev

AU - Ryabov, Fedor D.

AU - Shew, Colin J.

AU - Sauria, Michael E. G.

AU - Borchers, Matthew

AU - Gershman, Ariel

AU - Mikheenko, Alla

AU - Shepelev, Valery A.

AU - Dvorkina, Tatiana

AU - Kunyavskaya, Olga

AU - Vollger, Mitchell R.

AU - Rhie, Arang

AU - McCartney, Ann M.

AU - Asri, Mobin

AU - Lorig-Roach, Ryan

AU - Shafin, Kishwar

AU - Lucas, Julian K.

AU - Aganezov, Sergey

AU - Olson, Daniel

AU - de Lima, Leonardo Gomes

AU - Potapova, Tamara

AU - Hartley, Gabrielle A.

AU - Haukness, Marina

AU - Kerpedjiev, Peter

AU - Gusev, Fedor

AU - Tigyi, Kristof

AU - Brooks, Shelise

AU - Young, Alice

AU - Nurk, Sergey

AU - Koren, Sergey

AU - Salama, Sofie R.

AU - Paten, Benedict

AU - Rogaev, Evgeny I.

AU - Streets, Aaron

AU - Karpen, Gary H.

AU - Dernburg, Abby F.

AU - Sullivan, Beth A.

AU - Straight, Aaron F.

AU - Wheeler, Travis J.

AU - Gerton, Jennifer L.

AU - Eichler, Evan E.

AU - Phillippy, Adam M.

AU - Timp, Winston

PY - 2022/4/1

Y1 - 2022/4/1

N2 - 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.

AB - 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.

KW - Centromere/genetics

KW - Chromosome Mapping

KW - Epigenesis, Genetic

KW - Evolution, Molecular

KW - Genome, Human

KW - Genomics

KW - Humans

KW - Repetitive Sequences, Nucleic Acid

UR - http://www.scopus.com/inward/record.url?scp=85127420501&partnerID=8YFLogxK

U2 - 10.1126/science.abl4178

DO - 10.1126/science.abl4178

M3 - Article

C2 - 35357911

AN - SCOPUS:85127420501

VL - 376

JO - Science

JF - Science

SN - 0036-8075

IS - 6588

M1 - eabl4178

ER -

ID: 94683958

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