Author, as appears in the article.: Chicote, Javier U.; Lopez-Sanchez, Marcos; Marques-Bonet, Tomas; Callizo, Jose; Perez-Jurado, Luis A.; Garcia-Espana, Antonio;
Department: Medicina i Cirurgia
URV's Author/s: Callizo Tomás, José
Keywords: X-y transposed region Segmental duplications Repair Nhej Mmbir/fostes Human genome evolution Gene Evolutionary mechanisms Copy number variants Circular dna Chromoanasynthesis
Abstract: Background: Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic segments.
Results: Here we provide evidence of the participation of circular DNA intermediates in the single generation of some large human segmental duplications. A specific reversion of sequence order from A-B/C-D to B-A/D-C between duplicated segments and the presence of only microhomologies and short indels at the evolutionary breakpoints suggest a circularization of the donor ancestral locus and an accidental replicative interaction with the acceptor locus.
Conclusions: This novel mechanism of random genomic mutation could explain several distant genomic duplications including some of the ones that took place during recent human evolution.
Thematic Areas: Zootecnia / recursos pesqueiros Saúde coletiva Química Odontología Medicina veterinaria Medicina iii Medicina ii Medicina i Matemática / probabilidade e estatística Interdisciplinar Genetics & heredity Genetics Farmacia Engenharias iv Engenharias iii Engenharias ii Educação física Ciências biológicas iii Ciências biológicas ii Ciências biológicas i Ciências ambientais Ciências agrárias i Ciência de alimentos Ciência da computação Biotecnología Biotechnology & applied microbiology Biotechnology Biodiversidade Astronomia / física
licence for use: https://creativecommons.org/licenses/by/3.0/es/
Author's mail: jose.callizo@urv.cat
Record's date: 2023-02-19
Papper version: info:eu-repo/semantics/publishedVersion
Link to the original source: https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-020-06998-w
Papper original source: Bmc Genomics. 21 (1):
APA: Chicote, Javier U.; Lopez-Sanchez, Marcos; Marques-Bonet, Tomas; Callizo, Jose; Perez-Jurado, Luis A.; Garcia-Espana, Antonio; (2020). Circular DNA intermediates in the generation of large human segmental duplications. Bmc Genomics, 21(1), -. DOI: 10.1186/s12864-020-06998-w
Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
Article's DOI: 10.1186/s12864-020-06998-w
Entity: Universitat Rovira i Virgili
Journal publication year: 2020
Publication Type: Journal Publications
Repositori URV