Articles producció científica> Medicina i Cirurgia

Circular DNA intermediates in the generation of large human segmental duplications

  • Datos identificativos

    Identificador: imarina:8679851
    Autores:
    Chicote, Javier U.Lopez-Sanchez, MarcosMarques-Bonet, TomasCallizo, JosePerez-Jurado, Luis A.Garcia-Espana, Antonio
    Resumen:
    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.
  • Otros:

    Autor según el artículo: Chicote, Javier U.; Lopez-Sanchez, Marcos; Marques-Bonet, Tomas; Callizo, Jose; Perez-Jurado, Luis A.; Garcia-Espana, Antonio;
    Departamento: Medicina i Cirurgia
    Autor/es de la URV: Callizo Tomás, José
    Palabras clave: X-y transposed region Segmental duplications Repair Nhej Mmbir/fostes Human genome evolution Gene Evolutionary mechanisms Copy number variants Circular dna Chromoanasynthesis
    Resumen: 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.
    Áreas temáticas: 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
    Acceso a la licencia de uso: https://creativecommons.org/licenses/by/3.0/es/
    Direcció de correo del autor: jose.callizo@urv.cat
    Fecha de alta del registro: 2023-02-19
    Versión del articulo depositado: info:eu-repo/semantics/publishedVersion
    Enlace a la fuente original: https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-020-06998-w
    Referencia al articulo segun fuente origial: Bmc Genomics. 21 (1):
    Referencia de l'ítem segons les normes 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
    URL Documento de licencia: https://repositori.urv.cat/ca/proteccio-de-dades/
    DOI del artículo: 10.1186/s12864-020-06998-w
    Entidad: Universitat Rovira i Virgili
    Año de publicación de la revista: 2020
    Tipo de publicación: Journal Publications
  • Palabras clave:

    Biotechnology,Biotechnology & Applied Microbiology,Genetics,Genetics & Heredity
    X-y transposed region
    Segmental duplications
    Repair
    Nhej
    Mmbir/fostes
    Human genome evolution
    Gene
    Evolutionary mechanisms
    Copy number variants
    Circular dna
    Chromoanasynthesis
    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
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