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The complete sequence of a human Y chromosome

Rhie, Arang; Nurk, Sergey; Cechova, Monika; Hoyt, Savannah J; Taylor, Dylan J; Altemose, Nicolas; Hook, Paul W; ... Phillippy, Adam M; + view all (2023) The complete sequence of a human Y chromosome. Nature , 621 (7978) pp. 344-354. 10.1038/s41586-023-06457-y. Green open access

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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 duplications1-3. 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: Article
Title: The complete sequence of a human Y chromosome
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41586-023-06457-y
Publisher version: https://doi.org/10.1038/s41586-023-06457-y
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Humans, Base Sequence, Chromosomes, Human, Y, DNA, Satellite, Genetic Variation, Genetics, Population, Genomics, Heterochromatin, Multigene Family, Reference Standards, Segmental Duplications, Genomic, Sequence Analysis, DNA, Tandem Repeat Sequences, Telomere
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10178467
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