Complete genomic and epigenetic maps of human centromeres
Abstrak
Existing human genome assemblies have almost entirely excluded highly repetitive sequences within and near centromeres, limiting our understanding of their sequence, evolution, and essential role in chromosome segregation. Here, we present an extensive study of newly assembled peri/centromeric sequences representing 6.2% (189.9 Mb) of the first complete, telomere-to-telomere human genome assembly (T2T-CHM13). We discovered novel patterns of peri/centromeric repeat organization, variation, and evolution at both large and small length scales. We also found that inner kinetochore proteins tend to overlap the most recently duplicated subregions within centromeres. Finally, we compared chromosome X centromeres across a diverse panel of individuals and uncovered structural, epigenetic, and sequence variation at single-base resolution across these regions. In total, this work provides an unprecedented atlas of human centromeres to guide future studies of their complex and critical functions as well as their unique evolutionary dynamics. One-sentence summary Deep characterization of fully assembled human centromeres reveals their architecture and fine-scale organization, variation, and evolution.
Penulis (58)
Nicolas Altemose
Glennis A. Logsdon
Andrey V. Bzikadze
Pragya Sidhwani
Sasha A. Langley
G. V. Caldas
Savannah J. Hoyt
L. Uralsky
F. Ryabov
Colin J. Shew
M. Sauria
M. Borchers
Ariel Gershman
A. Mikheenko
V. Shepelev
T. Dvorkina
Olga Kunyavskaya
Mitchell R. Vollger
A. Rhie
Ann M. McCartney
Mobin Asri
Ryan Lorig-Roach
Kishwar Shafin
S. Aganezov
Daniel R. Olson
L. D. de Lima
T. Potapova
Gabrielle Hartley
Marina Haukness
Peter Kerpedjiev
F. Gusev
Kristof Tigyi
Shelise Y. Brooks
Alice C. Young
S. Nurk
S. Koren
S. Salama
Benedict Paten
E. Rogaev
Aaron M. Streets
G. Karpen
A. Dernburg
B. Sullivan
A. Straight
T. Wheeler
J. Gerton
E. Eichler
A. Phillippy
W. Timp
M. Dennis
R. O’Neill
J. Zook
M. Schatz
P. Pevzner
M. Diekhans
C. Langley
I. Alexandrov
K. Miga
Akses Cepat
- Tahun Terbit
- 2021
- Bahasa
- en
- Total Sitasi
- 431×
- Sumber Database
- Semantic Scholar
- DOI
- 10.1126/science.abl4178
- Akses
- Open Access ✓