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The complete sequence of a human Y chromosome.
- Source :
-
Nature [Nature] 2023 Sep; Vol. 621 (7978), pp. 344-354. Date of Electronic Publication: 2023 Aug 23. - Publication Year :
- 2023
-
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 <superscript>1-3</superscript> . 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 <superscript>4,5</superscript> . 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 <superscript>4</superscript> and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes.<br /> (© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)
- Subjects :
- Humans
Base Sequence
DNA, Satellite genetics
Genetic Variation genetics
Genetics, Population
Heterochromatin genetics
Multigene Family genetics
Reference Standards
Segmental Duplications, Genomic genetics
Tandem Repeat Sequences genetics
Telomere genetics
Chromosomes, Human, Y genetics
Genomics methods
Genomics standards
Sequence Analysis, DNA standards
Subjects
Details
- Language :
- English
- ISSN :
- 1476-4687
- Volume :
- 621
- Issue :
- 7978
- Database :
- MEDLINE
- Journal :
- Nature
- Publication Type :
- Academic Journal
- Accession number :
- 37612512
- Full Text :
- https://doi.org/10.1038/s41586-023-06457-y