Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
The structure, function and evolution of a complete human chromosome 8. / Logsdon, Glennis A.; Vollger, Mitchell R.; Hsieh, Ping Hsun; Mao, Yafei; Liskovykh, Mikhail A.; Koren, Sergey; Nurk, Sergey; Mercuri, Ludovica; Dishuck, Philip C.; Rhie, Arang; de Lima, Leonardo G.; Dvorkina, Tatiana; Porubsky, David; Harvey, William T.; Mikheenko, Alla; Kremitzki, Milinn; Graves-Lindsay, Tina A.; Jain, Chirag; Hoekzema, Kendra; Murali, Shwetha C.; Munson, Katherine M.; Baker, Carl; Sorensen, Melanie; Lewis, Alexandra M.; Surti, Urvashi; Gerton, Jennifer L.; Larionov, Vladimir; Ventura, Mario; Miga, Karen H.; Phillippy, Adam M.; Eichler, Evan E.
в: Nature, Том 593, № 7857, 06.05.2021, стр. 101-107.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
}
TY - JOUR
T1 - The structure, function and evolution of a complete human chromosome 8
AU - Logsdon, Glennis A.
AU - Vollger, Mitchell R.
AU - Hsieh, Ping Hsun
AU - Mao, Yafei
AU - Liskovykh, Mikhail A.
AU - Koren, Sergey
AU - Nurk, Sergey
AU - Mercuri, Ludovica
AU - Dishuck, Philip C.
AU - Rhie, Arang
AU - de Lima, Leonardo G.
AU - Dvorkina, Tatiana
AU - Porubsky, David
AU - Harvey, William T.
AU - Mikheenko, Alla
AU - Kremitzki, Milinn
AU - Graves-Lindsay, Tina A.
AU - Jain, Chirag
AU - Hoekzema, Kendra
AU - Murali, Shwetha C.
AU - Munson, Katherine M.
AU - Baker, Carl
AU - Sorensen, Melanie
AU - Lewis, Alexandra M.
AU - Surti, Urvashi
AU - Gerton, Jennifer L.
AU - Larionov, Vladimir
AU - Ventura, Mario
AU - Miga, Karen H.
AU - Phillippy, Adam M.
AU - Eichler, Evan E.
N1 - Publisher Copyright: © 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/5/6
Y1 - 2021/5/6
N2 - The complete assembly of each human chromosome is essential for understanding human biology and evolution1,2. Here we use complementary long-read sequencing technologies to complete the linear assembly of human chromosome 8. Our assembly resolves the sequence of five previously long-standing gaps, including a 2.08-Mb centromeric α-satellite array, a 644-kb copy number polymorphism in the β-defensin gene cluster that is important for disease risk, and an 863-kb variable number tandem repeat at chromosome 8q21.2 that can function as a neocentromere. We show that the centromeric α-satellite array is generally methylated except for a 73-kb hypomethylated region of diverse higher-order α-satellites enriched with CENP-A nucleosomes, consistent with the location of the kinetochore. In addition, we confirm the overall organization and methylation pattern of the centromere in a diploid human genome. Using a dual long-read sequencing approach, we complete high-quality draft assemblies of the orthologous centromere from chromosome 8 in chimpanzee, orangutan and macaque to reconstruct its evolutionary history. Comparative and phylogenetic analyses show that the higher-order α-satellite structure evolved in the great ape ancestor with a layered symmetry, in which more ancient higher-order repeats locate peripherally to monomeric α-satellites. We estimate that the mutation rate of centromeric satellite DNA is accelerated by more than 2.2-fold compared to the unique portions of the genome, and this acceleration extends into the flanking sequence.
AB - The complete assembly of each human chromosome is essential for understanding human biology and evolution1,2. Here we use complementary long-read sequencing technologies to complete the linear assembly of human chromosome 8. Our assembly resolves the sequence of five previously long-standing gaps, including a 2.08-Mb centromeric α-satellite array, a 644-kb copy number polymorphism in the β-defensin gene cluster that is important for disease risk, and an 863-kb variable number tandem repeat at chromosome 8q21.2 that can function as a neocentromere. We show that the centromeric α-satellite array is generally methylated except for a 73-kb hypomethylated region of diverse higher-order α-satellites enriched with CENP-A nucleosomes, consistent with the location of the kinetochore. In addition, we confirm the overall organization and methylation pattern of the centromere in a diploid human genome. Using a dual long-read sequencing approach, we complete high-quality draft assemblies of the orthologous centromere from chromosome 8 in chimpanzee, orangutan and macaque to reconstruct its evolutionary history. Comparative and phylogenetic analyses show that the higher-order α-satellite structure evolved in the great ape ancestor with a layered symmetry, in which more ancient higher-order repeats locate peripherally to monomeric α-satellites. We estimate that the mutation rate of centromeric satellite DNA is accelerated by more than 2.2-fold compared to the unique portions of the genome, and this acceleration extends into the flanking sequence.
KW - Animals
KW - Cell Line
KW - Centromere/chemistry
KW - Chromosomes, Human, Pair 8/chemistry
KW - DNA Methylation
KW - DNA, Satellite/genetics
KW - Epigenesis, Genetic
KW - Evolution, Molecular
KW - Female
KW - Humans
KW - Macaca mulatta/genetics
KW - Male
KW - Minisatellite Repeats/genetics
KW - Pan troglodytes/genetics
KW - Phylogeny
KW - Pongo abelii/genetics
KW - Telomere/chemistry
UR - http://www.scopus.com/inward/record.url?scp=85103900292&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/526d3c96-9a0e-3b9a-8871-560012d9d73d/
U2 - 10.1038/s41586-021-03420-7
DO - 10.1038/s41586-021-03420-7
M3 - Article
C2 - 33828295
AN - SCOPUS:85103900292
VL - 593
SP - 101
EP - 107
JO - Nature
JF - Nature
SN - 0028-0836
IS - 7857
ER -
ID: 76391336