Much of the Y chromosome has remained obscure owing to the challenge of sequencing repetitive genomic regions. Recently, the Y chromosome has been fully sequenced, revealing extensive heterochromatic areas and 41 new protein-coding genes. Furthermore, 43 Y chromosomes have been sequenced, showing extensive multi-sample variation and providing promising insights into male infertility.
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References
Rhie, A. et al. The complete sequence of a human Y chromosome. Nature https://doi.org/10.1038/s41586-023-06457-y (2023).
Wilson, M. A. The Y chromosome and its impact on health and disease. Hum. Mol. Genet. 30, R296–R300 (2021).
Porubsky, D. et al. Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. Cell 185, 1986–2005.e26 (2022).
Wenger, A. M. et al. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat. Biotechnol. 37, 1155–1162 (2019).
Jain, M. et al. Nanopore sequencing and assembly of a human genome with ultra-long reads. Nat. Biotechnol. 36, 338–345 (2018).
Jarvis, E. D. et al. Semi-automated assembly of high-quality diploid human reference genomes. Nature 611, 519–531 (2022).
Shumate, A. et al. Assembly and annotation of an Ashkenazi human reference genome. Genome Biol. 21, 129 (2020).
Hallast, P. et al. Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature https://doi.org/10.1038/s41586-023-06425-6 (2023).
Yan, J. et al. DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest. Eur. J. Obstet. Gynecol. Reprod. Biol. 159, 371–374 (2011).
Krausz, C., Giachini, C. & Forti, G. TSPY and male fertility. Genes 1, 308–316 (2010).
Acknowledgements
This work was supported by NIH Grant R01 DK130991, UE5DK137308 and Clinician Scientist Development Grant from the ACS to R.R.
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Rojas, M.G., Pozzi, E. & Ramasamy, R. Unlocking the mystery of the human Y chromosome. Nat Rev Urol 21, 65–66 (2024). https://doi.org/10.1038/s41585-023-00826-y
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DOI: https://doi.org/10.1038/s41585-023-00826-y
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