학술논문
The complete sequence of a human Y chromosome
Document Type
Original Paper
Author
Rhie, Arang; Nurk, Sergey; Cechova, Monika; Hoyt, Savannah J.; Taylor, Dylan J.; Altemose, Nicolas; Hook, Paul W.; Koren, Sergey; Rautiainen, Mikko; Alexandrov, Ivan A.; Allen, Jamie; Asri, Mobin; Bzikadze, Andrey V.; Chen, Nae-Chyun; Chin, Chen-Shan; Diekhans, Mark; Flicek, Paul; Formenti, Giulio; Fungtammasan, Arkarachai; Garcia Giron, Carlos; Garrison, Erik; Gershman, Ariel; Gerton, Jennifer L.; Grady, Patrick G. S.; Guarracino, Andrea; Haggerty, Leanne; Halabian, Reza; Hansen, Nancy F.; Harris, Robert; Hartley, Gabrielle A.; Harvey, William T.; Haukness, Marina; Heinz, Jakob; Hourlier, Thibaut; Hubley, Robert M.; Hunt, Sarah E.; Hwang, Stephen; Jain, Miten; Kesharwani, Rupesh K.; Lewis, Alexandra P.; Li, Heng; Logsdon, Glennis A.; Lucas, Julian K.; Makalowski, Wojciech; Markovic, Christopher; Martin, Fergal J.; Mc Cartney, Ann M.; McCoy, Rajiv C.; McDaniel, Jennifer; McNulty, Brandy M.; Medvedev, Paul; Mikheenko, Alla; Munson, Katherine M.; Murphy, Terence D.; Olsen, Hugh E.; Olson, Nathan D.; Paulin, Luis F.; Porubsky, David; Potapova, Tamara; Ryabov, Fedor; Salzberg, Steven L.; Sauria, Michael E. G.; Sedlazeck, Fritz J.; Shafin, Kishwar; Shepelev, Valery A.; Shumate, Alaina; Storer, Jessica M.; Surapaneni, Likhitha; Taravella Oill, Angela M.; Thibaud-Nissen, Françoise; Timp, Winston; Tomaszkiewicz, Marta; Vollger, Mitchell R.; Walenz, Brian P.; Watwood, Allison C.; Weissensteiner, Matthias H.; Wenger, Aaron M.; Wilson, Melissa A.; Zarate, Samantha; Zhu, Yiming; Zook, Justin M.; Eichler, Evan E.; O’Neill, Rachel J.; Schatz, Michael C.; Miga, Karen H.; Makova, Kateryna D.; Phillippy, Adam M.
Source
Nature: International weekly journal of science. 621(7978):344-354
Subject
Language
English
ISSN
0028-0836
1476-4687
1476-4687
Abstract
The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1–3 . As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5 . Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference, showing the complete ampliconic structures of gene families TSPY, DAZ and RBMY; 41 additional protein-coding genes, mostly from the TSPY family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region. We have combined T2T-Y with a previous assembly of the CHM13 genome4 and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes.
We present the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference.
We present the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference.