@article {328695,
	title = {Assembly of 43 human Y chromosomes reveals extensive complexity and variation.},
	journal = {Nature},
	year = {2023},
	month = {2023 Aug 23},
	abstract = {<p>The prevalence of highly repetitive sequences within the human Y chromosome has prevented its complete assembly to date and led to its systematic omission from genomic analyses. Here we present de novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution and report considerable diversity in size and structure. Half of the male-specific euchromatic region is subject to large inversions with a greater than twofold higher recurrence rate compared with all other chromosomes. Ampliconic sequences associated with these inversions show differing mutation rates that are sequence context dependent, and some ampliconic genes exhibit evidence for concerted evolution with the acquisition and purging of lineage-specific pseudogenes. The largest heterochromatic region in the human genome, Yq12, is composed of alternating repeat arrays that show extensive variation in the number, size and distribution, but retain a 1:1 copy-number ratio. Finally, our data suggest that the boundary between the recombining pseudoautosomal region 1 and the non-recombining portions of the X and Y chromosomes lies 500 kb away from the currently established boundary. The availability of fully sequence-resolved Y chromosomes from multiple individuals provides a unique opportunity for identifying new associations of traits with specific Y-chromosomal variants and garnering insights into the evolution and function of complex regions of the human genome.</p>
},
	issn = {1476-4687},
	doi = {10.1038/s41586-023-06425-6},
	url = {https://www.nature.com/articles/s41586-023-06425-6},
	author = {Hallast, Pille and Ebert, Peter and Loftus, Mark and Yilmaz, Feyza and Audano, Peter A and Logsdon, Glennis A and Bonder, Marc Jan and Zhou, Weichen and H{\"o}ps, Wolfram and Kim, Kwondo and Li, Chong and Hoyt, Savannah J and Dishuck, Philip C and Porubsky, David and Tsetsos, Fotios and Kwon, Jee Young and Zhu, Qihui and Munson, Katherine M and Hasenfeld, Patrick and Harvey, William T and Lewis, Alexandra P and Kordosky, Jennifer and Hoekzema, Kendra and O{\textquoteright}Neill, Rachel J and Korbel, Jan O and Tyler-Smith, Chris and Eichler, Evan E and Shi, Xinghua and Beck, Christine R and Marschall, Tobias and Konkel, Miriam K and Lee, Charles}
}
