2026-04-13T01:26:46Zhttps://recercat.cat/oai/request
oai:recercat.cat:2072/4613422024-11-04T03:46:04Zcom_2072_98col_2072_378192
RECERCAT author Maggiolini, Flavia Angela Maria author Sanders, Ashley D. author Shew, Colin James author Sulovari, Arvis author Mao, Yafei author Puig Font, Marta author Catacchio, Claudia Rita author Dellino, Maria author Palmisano, Donato author Mercuri, Ludovica author Bitonto, Miriana author Porubský, David author Cáceres Aguilar, Mario author Eichler, Evan E. author Ventura, Mario author Dennis, Megan Y. author Korbel, Jan O. author Antonacci, Francesca 2024-11-04T03:46:04Z 2024-11-04T03:46:04Z 2020 http://hdl.handle.net/2072/461342 Rhesus macaque is an Old World monkey that shared a common ancestor with human ∼25 Myr ago and is an important animal model for human disease studies. A deep understanding of its genetics is therefore required for both biomedical and evolutionary studies. Among structural variants, inversions represent a driving force in speciation and play an important role in disease predisposition. Here we generated a genome-wide map of inversions between human and macaque, combining single-cell strand sequencing with cytogenetics. We identified 375 total inversions between 859 bp and 92 Mbp, increasing by eightfold the number of previously reported inversions. Among these, 19 inversions flanked by segmental duplications overlap with recurrent copy number variants associated with neurocognitive disorders. Evolutionary analyses show that in 17 out of 19 cases, the Hominidae orientation of these disease-associated regions is always derived. This suggests that duplicated sequences likely played a fundamental role in generating inversions in humans and great apes, creating architectures that nowadays predispose these regions to disease-associated genetic instability. Finally, we identified 861 genes mapping at 156 inversions breakpoints, with some showing evidence of differential expression in human and macaque cell lines, thus highlighting candidates that might have contributed to the evolution of species-specific features. This study depicts the most accurate fine-scale map of inversions between human and macaque using a two-pronged integrative approach, such as single-cell strand sequencing and cytogenetics, and represents a valuable resource toward understanding of the biology and evolution of primate species. open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by-nc/4.0/ Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution Article