The complete sequence of a human Y chromosome

• Authors: RHIE Arang; NURK Sergey; ČECHOVÁ 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; CARLOS Garcia Giron; 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; HENG Li; LOGSDON Glennis A; LUCAS Julian K; MAKALOWSKI Wojciech; MARKOVIC Christopher; MARTIN Fergal J; CARTNEY Ann M Mc; 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; OILL Angella M. Taravella; THIBAUD-NISSEN Francoise; 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; NEILL Rachel J; SCHATZ Michael C; MIGA Karen H; MAKOVA Kateryna D; PHILLIPPY Adam M
• Year of publication: 2023
• Type: Article in Periodical
• Magazine / Source: Nature
• MU Faculty or unit: Faculty of Informatics
• web: http://dx.doi.org/10.1038/s41586-023-06457-y
• Doi: https://doi.org/10.1038/s41586-023-06457-y
• Keywords: human genome human Y chromosome
• Description: 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.