The complete sequence of a human Y chromosome

RHIE, Arang, Sergey NURK, Monika Cechova, Savannah J HOYT, Dylan J TAYLOR, Nicolas ALTEMOSE, Paul W HOOK, Sergey KOREN, Mikko RAUTIAINEN, Ivan A ALEXANDROV, Jamie ALLEN, Mobin ASRI, Andrey V BZIKADZE, Nae-Chyun CHEN, Chen-Shan CHIN, Mark DIEKHANS, Paul FLICEK, Giulio FORMENTI, Arkarachai FUNGTAMMASAN, Garcia Giron CARLOS, Erik GARRISON, Ariel GERSHMAN, Jennifer L GERTON, Patrick G S GRADY, Andrea GUARRACINO, Leanne HAGGERTY, Reza HALABIAN, Nancy F HANSEN, Robert HARRIS, Gabrielle A HARTLEY, William T HARVEY, Marina HAUKNESS, Jakob HEINZ, Thibaut HOURLIER, Robert M HUBLEY, Sarah E HUNT, Stephen HWANG, Miten JAIN, Rupesh K KESHARWANI, Alexandra P LEWIS, Li HENG, Glennis A LOGSDON, Julian K LUCAS, Wojciech MAKALOWSKI, Christopher MARKOVIC, Fergal J MARTIN, Ann M Mc CARTNEY, Rajiv C MCCOY, Jennifer MCDANIEL, Brandy M MCNULTY, Paul MEDVEDEV, Alla MIKHEENKO, Katherine M MUNSON, Terence D MURPHY, Hugh E OLSEN, Nathan D OLSON, Luis F PAULIN, David PORUBSKY, Tamara POTAPOVA, Fedor RYABOV, Steven L SALZBERG, Michael E G SAURIA, Fritz J SEDLAZECK, Kishwar SHAFIN, Valery A SHEPELEV, Alaina SHUMATE, Jessica M STORER, Likhitha SURAPANENI, Angella M. Taravella OILL, Francoise THIBAUD-NISSEN, Winston TIMP, Marta TOMASZKIEWICZ, Mitchell R VOLLGER, Brian P WALENZ, Allison C WATWOOD, Matthias H WEISSENSTEINER, Aaron M WENGER, Melissa A WILSON, Samantha ZARATE, Yiming ZHU, Justin M ZOOK, Evan E EICHLER, Rachel J NEILL, Michael C SCHATZ, Karen H Miga, Kateryna D MAKOVA, Adam M PHILLIPPY
July 2022
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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 duplications1,2,3. 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.

Type
Journal article
Publication
Nature

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Monika Cechova
Monika Cechova

My research interests include long reads and T2T genomics.

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