Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
Maggiolini, Flavia Angela Maria (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Sanders, Ashley D. (European Molecular Biology Laboratory)
Shew, Colin James (University of California. Department of Biochemistry & Molecular Medicine)
Sulovari, Arvis (University of Washington School of Medicine. Department of Genome Sciences)
Mao, Yafei (University of Washington School of Medicine. Department of Genome Sciences)
Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Catacchio, Claudia Rita (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Dellino, Maria (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Palmisano, Donato (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Mercuri, Ludovica (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Bitonto, Miriana (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Porubský, David (University of Washington School of Medicine. Department of Genome Sciences)
Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Eichler, Evan E. (University of Washington. Howard Hughes Medical Institute)
Ventura, Mario (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Dennis, Megan Y. (University of California. Department of Biochemistry & Molecular Medicine)
Korbel, Jan O. (European Molecular Biology Laboratory)
Antonacci, Francesca (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)

Date:	2020
Abstract:	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.
Grants:	Agencia Estatal de Investigación BFU2016-77244-R European Commission 773026
Rights:	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.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Published in:	Genome research, Vol. 30, Issue 11 (November 2020) , p. 1680-1693, ISSN 1549-5469

DOI: 10.1101/gr.265322.120
PMID: 33093070

14 p, 3.8 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Biotecnologia i de Biomedicina (IBB)
Articles > Research articles
Articles > Published articles