Jove
Visualize
Contáctanos
JoVE
x logofacebook logolinkedin logoyoutube logo
ACERCA DE JoVE
Visión GeneralLiderazgoBlogCentro de Ayuda JoVE
AUTORES
Proceso de PublicaciónConsejo EditorialAlcance y PolíticasRevisión por ParesPreguntas FrecuentesEnviar
BIBLIOTECARIOS
TestimoniosSuscripcionesAccesoRecursosConsejo Asesor de BibliotecasPreguntas Frecuentes
INVESTIGACIÓN
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchivo
EDUCACIÓN
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualCentro de Recursos para ProfesoresSitio de Profesores
Términos y Condiciones de Uso
Política de Privacidad
Políticas

Videos de Conceptos Relacionados

Gene Conversion02:08

Gene Conversion

9.9K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
9.9K
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

6.1K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
6.1K
Exon Recombination02:32

Exon Recombination

3.7K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.7K
Crossing Over01:30

Crossing Over

4.7K
Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
4.7K
Viral Recombination00:57

Viral Recombination

23.7K
Cells are sometimes infected by more than one virus at once. When two viruses disassemble to expose their genomes for replication in the same cell, similar regions of their genomes can pair together and exchange sequences in a process called recombination. Alternatively, viruses with segmented genomes can swap segments in a process called reassortment.
23.7K
Homologous Recombination02:31

Homologous Recombination

50.9K
The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
50.9K

También podría leer

Artículos Relacionados

Artículos vinculados a este trabajo por autores compartidos, revista y gráfico de citas.

Ordenar por
Same author

Identification of long non-coding RNAs involved in leukemogenesis and venetoclax response in acute myeloid leukemia through functional CRISPR-dCas9 interference screens.

Non-coding RNA research·2026
Same author

Improved RNA-DNA interaction calling suggests RNA-based gene regulation of phenotypic transitions.

Nucleic acids research·2026
Same author

TROP2 expression as a prognostic predictor for osimertinib in patients with <i>EGFR</i>-mutant non-small cell lung cancer.

Translational lung cancer research·2026
Same author

Early FMISO PET changes as exploratory predictors of immune checkpoint inhibitor response in advanced lung cancer: a pilot study.

Scientific reports·2026
Same author

Correction: Annotation of nuclear lncRNAs based on chromatin interactions.

PloS one·2026
Same author

Creating an engine of scientific discovery, an Indo-Japan perspective: learnings from IJNTC 2025 workshop.

NPJ systems biology and applications·2026

Video Experimental Relacionado

Updated: Sep 3, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

871

La recombinación de elementos repetidos genera complejidad somática en los genomas humanos

Giovanni Pascarella1, Chung Chau Hon1, Kosuke Hashimoto2

  • 1RIKEN Center for Integrative Medical Sciences (IMS), Yokohama 230-0045, Japan.

Cell
|July 26, 2022
PubMed
Resumen

La recombinación somática de elementos de ADN repetitivos como Alu y L1 es común en el genoma humano, variando por tipo de tejido y célula. Este proceso está relacionado con la inestabilidad genómica en enfermedades neurodegenerativas.

Palabras clave:
El aluminioL1 y L2Los Estados miembros:Recombinación homóloga no aleloiderecombinaciónelementos de repeticiónmosaicismo somáticoLas variantes estructurales

Más Videos Relacionados

Subcloning Plus Insertion SPI - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors
09:02

Subcloning Plus Insertion SPI - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors

Published on: January 8, 2015

16.6K
Recombineering Homologous Recombination Constructs in Drosophila
14:23

Recombineering Homologous Recombination Constructs in Drosophila

Published on: July 13, 2013

19.4K

Videos de Experimentos Relacionados

Last Updated: Sep 3, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

871
Subcloning Plus Insertion SPI - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors
09:02

Subcloning Plus Insertion SPI - A Novel Recombineering Method for the Rapid Construction of Gene Targeting Vectors

Published on: January 8, 2015

16.6K
Recombineering Homologous Recombination Constructs in Drosophila
14:23

Recombineering Homologous Recombination Constructs in Drosophila

Published on: July 13, 2013

19.4K

Área de la Ciencia:

  • Genómica y Biología Molecular
  • La genética humana
  • La neurociencia

Sus antecedentes:

  • La recombinación homóloga no alélica entre elementos repetitivos es un factor conocido de la evolución y los trastornos genéticos.
  • El alcance y las implicaciones de la recombinación somática de estos elementos en el genoma humano sano y enfermo siguen siendo incompletamente comprendidos.

Objetivo del estudio:

  • Investigar la prevalencia y las características de la recombinación somática de los elementos Alu y L1 en el genoma humano.
  • Explorar los patrones específicos de los tejidos y los roles potenciales de la recombinación mediada por retroelementos en la salud y la enfermedad, en particular la neurodegeneración.

Principales métodos:

  • Secuencia de lectura combinada de ADN corto y largo de elementos repetitivos.
  • Desarrollo y aplicación de una nueva tubería de bioinformática para el análisis de eventos de recombinación.
  • Análisis comparativo de perfiles de recombinación en células madre pluripotentes inducidas por el hombre y neuronas diferenciadas, y en estados de enfermedad neurodegenerativa.

Principales resultados:

  • La recombinación somática de los elementos Alu y L1 está muy extendida en todo el genoma humano.
  • Se identificaron distintos patrones de recombinación específicos del tejido, con enriquecimiento de retroelementos en los centrómeros y genes asociados con el cáncer.
  • Se observaron recombinaciones específicas de neuronas correlacionadas con cambios de cromatina durante la diferenciación celular y perfiles alterados en la enfermedad de Parkinson y Alzheimer.

Conclusiones:

  • La recombinación somática de elementos repetitivos contribuye significativamente a la diversidad genómica en los humanos.
  • La recombinación de retroelementos puede servir como un marcador de inestabilidad genómica en condiciones neurodegenerativas.
  • Este estudio proporciona nuevos conocimientos sobre el papel de la recombinación somática tanto en la biología humana normal como en la patogénesis de la enfermedad.