이아랑 (NHGRI / NIH) | 상위피인용논문 > 한빛사

한빛사논문, 상위피인용논문

조회451

NHGRI / NIH

CV File

Nature, Sep 2023, 621 (7978) | https://doi.org/10.1038/s41586-023-06457-y The complete sequence of a human Y chromosome

Arang Rhie^1,53, Sergey Nurk ^1,51,53, Monika Cechova ^2,3,53, Savannah J. Hoyt ^4,53, Dylan J. Taylor ^5,53, ......., Adam M. Phillippy ^{1 *}

¹Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
²Faculty of Informatics, Masaryk University, Brno, Czech Republic.
³Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
⁴Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
⁵Department of Biology, Johns Hopkins University, Baltimore, MD, USA.

⁵³These authors contributed equally

^*Corresponding author

Please refer to the original text for more details

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 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.

논문정보