The evolutionary history of Neanderthal and Denisovan Y chromosomes

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Petr, Martin; Hajdinjak, Mateja; Fu, Qiaomei; Essel, Elena; Rougier, Hélène; Crevecoeur, Isabelle; Semal, Patrick; Golovanova, Liubov V.; Doronichev, Vladimir B.; Lalueza-Fox, Carles; de la Rasilla, Marco; Rosas, Antonio; Shunkov, Michael V.; Kozlikin, Maxim B.; Derevianko, Anatoli P.; Vernot, Benjamin; Meyer, Matthias; Kelso, Janet
Year of Publication: 2020
Journal: Science
Volume: 369
Issue: 6511
Pagination: 1653
Date Published: 2020/09/25
Publication Language: eng

The genomes of archaic hominins have been sequenced and compared with that of modern humans. However, most archaic individuals with high-quality sequences available have been female. Petr et al. performed targeted sequencing of the paternally inherited Y chromosomes from three Neanderthals and two Denisovans (see the Perspective by Schierup). Comparisons with available archaic and diverse modern human Y chromosomes indicated that, similar to the maternally inherited mitochondria, the human and Neanderthal Y chromosomes were more closely related to each other compared with the Denisovan Y chromosome. This result supports the conclusion that interbreeding between early humans and Neanderthals and selection replaced the more ancient Denisovian-like Y chromosome and mitochondria in Neanderthals.Science, this issue p. 1653; see also p. 1565Ancient DNA has provided new insights into many aspects of human history. However, we lack comprehensive studies of the Y chromosomes of Denisovans and Neanderthals because the majority of specimens that have been sequenced to sufficient coverage are female. Sequencing Y chromosomes from two Denisovans and three Neanderthals shows that the Y chromosomes of Denisovans split around 700 thousand years ago from a lineage shared by Neanderthals and modern human Y chromosomes, which diverged from each other around 370 thousand years ago. The phylogenetic relationships of archaic and modern human Y chromosomes differ from the population relationships inferred from the autosomal genomes and mirror mitochondrial DNA phylogenies, indicating replacement of both the mitochondrial and Y chromosomal gene pools in late Neanderthals. This replacement is plausible if the low effective population size of Neanderthals resulted in an increased genetic load in Neanderthals relative to modern humans.

DOI: 10.1126/science.abb6460
Short Title: Science