Pille Hallast, Peter Ebert, Mark Loftus, Feyza Yilmaz, Peter A Audano, Glennis A Logsdon, Marc Jan Bonder, Weichen Zhou, Wolfram Höps, Kwondo Kim, Chong Li, Savannah J Hoyt, Philip C Dishuck, David Porubsky, Fotios Tsetsos, Jee Young Kwon, Qihui Zhu, Katherine M Munson, Patrick Hasenfeld, William T Harvey, Alexandra P Lewis, Jennifer Kordosky, Kendra Hoekzema, Rachel J O'Neill, Jan O Korbel, Chris Tyler-Smith, Evan E Eichler, Xinghua Shi, Christine R Beck, Tobias Marschall, Miriam K Konkel, Charles Lee
The prevalence of highly repetitive sequences within the human Y chromosome has prevented its complete assembly to date1 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 chromosomes2 . 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...
September 2023: Nature