Media release
From:
Springer Nature
Sequencing the human Y chromosome
The assembly and analysis of human Y chromosomes, the last human chromosome to be fully sequenced, is presented in two papers published in Nature this week. The findings close many gaps in the existing Y chromosome reference and reveal insights into its evolution and variation in different populations.
The human Y chromosome has been difficult to sequence and assemble owing to its complex structure. More than half of this chromosome is missing from the current human reference genome assembly. As a result, our understanding of the Y chromosome is incomplete, limiting what we know about its composition, complexity and how it might vary across populations.
Adam Phillippy and the Telomere-to-Telomere consortium present the complete 62,460,029-base-pair sequence of a human Y chromosome. The assembly corrects multiple errors in the Y chromosome from the current human reference genome assembly. It also adds over 30 million base pairs of sequence to the reference, revealing complete structures of a number of gene families and identifying 41 new protein-coding genes. The results also correct assumptions made in microbiome studies, in which previously unknown human Y chromosome sequences were mistakenly assigned as bacterial sequences.
In a separate paper, Charles Lee and colleagues assemble human Y chromosomes from 43 male individuals representing 21 different world populations. The assemblies provide a more detailed view of genetic variation between Y chromosomes across 183,000 years of human evolution. They reveal new DNA sequences, signatures of conserved regions and insights into the molecular mechanisms that contributed to the complex structure of the Y chromosome.
Journal/
conference:
Nature
Organisation/s:
National Human Genome Research Institute, USA, The Jackson Laboratory for Genomic Medicine, USA
Funder:
Paper 1: We thank the Intramural Research Program of NHGRI, NIH no. HG200398
(A.R., S.N., S.K., M.R., A.M.M., B.P.W. and A.M.P.); NIH no. GM123312 (S.J.H., P.G.S.G., G.A.H. and
R.J.O.); NIH no. GM130691 (P.M., M.H.W. and K.D.M.); HHMI Hanna Gray Fellowship (N.A.); NIH
no. GM147352 (G.A.L.); NIH nos. HG002939 and HG010136 (R.M.H. and J.M.S.); NIH no.
HG009190 (P.W.H., A. Gershman and W.T.); NIH nos. HG010263, HG006620 and CA253481 and
NSF no. DBI-1627442 (M.C.S.); NIH no. GM136684 (K.D.M.); NIH nos. HG011274 and HG010548
(K.H.M.); NIH nos. HG010961 and HG010040 (H.L.); NIH no. HG007234 (M.D.); NIH no.
HG011758 (F.J.S.); NIH no. DA047638 (E.G.); NIH no. GM124827 (M.A.W.); NIH no. GM133747
(R.C.M.); NIH no. CA240199 (R.J.O.); NIH nos. HG002385, HG010169 and HG010971 (E.E.E.);
Stowers Institute for Medical Research (J.L.G. and T.P.); National Center for Biotechnology
Information of the National Library of Medicine, NIH (F.T.-N. and T.D.M.); intramural funding at
NIST (J.M.Z.); NIST no. 70NANB20H206 (M.J.); and NIH nos. HG010972 and WT222155/Z/20/Z
and the European Molecular Biology Laboratory (J.A., P.F., C.G.G., L.H., T.H., S.E.H., F.J.M. and
L.S.). RNA generation was supported by NIST no. 70NANB21H101 and NIH no. 1S10OD028587;
the Ministry of Science and Higher Education of the Russian Federation, St. Petersburg State
University, no. PURE 73023672 (I.A.A.); the Computation, Bioinformatics, and Statistics
Predoctoral Training Program awarded to Penn State by the NIH (A.C.W.); and Achievement
Rewards for College Scientists Foundation, The Graduate College at Arizona State University
(A.M.T.O.). E.E.E. is an investigator for HHMI.
Paper 2: Funding was provided by National Institutes of Health (NIH) grants
U24HG007497 (to C.L., E.E.E., J.O.K. and T.M.), U01HG010973 (to T.M., E.E.E. and J.O.K.),
R01HG002385 and R01HG010169 (to E.E.E.), and GM123312 (to S.J.H. and R.J.O.); the German
Federal Ministry for Research and Education (BMBF 031L0184 to J.O.K. and T.M.); the German
Research Foundation (DFG 391137747 to T.M.); the German Human Genome-Phenome Archive
(DFG (NFDI 1/1) to J.O.K.); the European Research Council (ERC Consolidator grant 773026
to J.O.K.); the EMBL (to J.O.K. and P. Hasenfeld); the EMBL International PhD Programme
(to W.H.); the Jackson Laboratory Postdoctoral Scholar Award (to K.K.); NIH National Institute
of General Medical Sciences (NIGMS R35GM133600 to C.R.B.; 1P20GM139769 to M.K.K.
and M.L.) and the National Cancer Institute (NCI) (P30CA034196 to C.R.B. and P.A.A.);
U24HG007497 (P.H., F.Y., Q.Z., F.T. and J.Y.K.); NIGMS K99GM147352 (to G.A.L.); and Wellcome
grant 098051 (to C.T.-S.). This work was also supported, in part, by the P30 CA034196 grant
from the NCI. E.E.E. is an investigator of the Howard Hughes Medical Institute.
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