The complete sequence of a human Y chromosome.

Bibliographic Collection: 
Publication Type: Journal Article
Authors: 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
Year of Publication: 2023
Journal: Nature
Date Published: 2023 Aug 23
Publication Language: eng
ISSN: 1476-4687

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 duplications. 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 finished. 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 genome and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes.

DOI: 10.1038/s41586-023-06457-y
Alternate Journal: Nature