TY  - JOUR
A1  - Maggiolini, Flavia Angela Maria
A1  - Sanders, Ashley D.
A1  - Shew, Colin James
A1  - Sulovari, Arvis
A1  - Mao, Yafei
A1  - Puig, Marta
A1  - Catacchio, Claudia Rita
A1  - Dellino, Maria
A1  - Palmisano, Donato
A1  - Mercuri, Ludovica
A1  - Bitonto, Miriana
A1  - Porubský, David
A1  - Cáceres, Mario
A1  - Eichler, Evan E.
A1  - Ventura, Mario
A1  - Dennis, Megan Y.
A1  - Korbel, 
Jan O.
A1  - Antonacci, Francesca
T1  - Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
Y1  - 2020/11/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1680 
EP  - 1693 
DO  - 10.1101/gr.265322.120 
VL  - 30 
IS  - 11 
UR  - http://genome.cshlp.org/content/30/11/1680.abstract 
N2  - 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. 
ER  -