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

Mutations01:35

Mutations

41.5K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
41.5K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

13.3K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
13.3K
Mismatch Repair01:20

Mismatch Repair

5.5K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.5K
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

354
Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
354
Gene Conversion02:08

Gene Conversion

10.1K
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...
10.1K
Mutations in Microorganisms01:18

Mutations in Microorganisms

187
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
187

También podría leer

Artículos Relacionados

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

Ordenar por
Same author

A Clinically Integrated Pediatric Patient-Derived Xenograft Program Enables Evaluation of Cohort and Patient-Specific Biology and Therapeutic Strategies.

Cancer research·2026
Same author

Pancreatic Cancer: Translating Tumor Biology into Actionability.

Cancer discovery·2026
Same author

Estimating the Sodium Content: A Case Series of Benign and Malignant Renal Tumours Using <sup>23</sup>Na-MRI at 3 T.

NMR in biomedicine·2026
Same author

Visual morbidity, long-term outcome and prognostic factors in infants and young children with optic pathway low-grade glioma.

Neuro-oncology practice·2026
Same author

Common γ-chain cytokines induce an epigenomically plastic precursor-like KIT<sup>+</sup> ILC2 state linked to immune disease susceptibility.

The Journal of allergy and clinical immunology·2026
Same author

Hierarchical classification of immune cell transcriptomes at population-scale.

bioRxiv : the preprint server for biology·2026

Video Experimental Relacionado

Updated: Oct 22, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.6K

El paisaje mutacional de las células somáticas y germinales humanas

Luiza Moore1,2, Alex Cagan1, Tim H H Coorens1

  • 1Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.

Nature
|August 26, 2021
PubMed
Resumen
Este resumen es generado por máquina.

Las células humanas acumulan mutaciones a lo largo de la vida. Este estudio revela patrones de mutación variables en 29 tipos de células somáticas y germinales, con la tasa de mutación más baja observada en la espermatogonia.

Más Videos Relacionados

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.6K
Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.7K

Videos de Experimentos Relacionados

Last Updated: Oct 22, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.6K
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.6K
Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.7K

Área de la Ciencia:

  • La genómica
  • Biología celular
  • Fisiología humana

Sus antecedentes:

  • Las células somáticas y germinales acumulan mutaciones a lo largo de la vida de un individuo.
  • Comprender estas mutaciones es crucial para comprender la variación genética y las enfermedades.
  • Estudios anteriores han caracterizado las firmas mutacionales, pero falta una comparación exhaustiva entre numerosos tipos de células de los mismos individuos.

Objetivo del estudio:

  • Para comparar el paisaje mutacional a través de 29 diversos tipos de células humanas tanto del soma como de la línea germinal.
  • Identificar y cuantificar las firmas mutacionales ubicuas y específicas dentro de estos tipos de células.
  • Investigar la tasa de mutación en la espermatogonia y sus implicaciones para la variación genética humana.

Principales métodos:

  • Análisis comparativo de las firmas mutacionales en el ADN de 29 tipos de células en múltiples individuos.
  • Utilizó datos de secuenciación de todo el genoma para identificar y clasificar mutaciones.
  • Se cuantificó la contribución de diferentes firmas mutacionales (por ejemplo, SBS1, SBS5/40, SBS18) a la carga de mutación general.

Principales resultados:

  • Dos firmas mutacionales, SBS1 y SBS5/40, fueron predominantes en la mayoría de los tipos de células, pero sus proporciones variaron significativamente.
  • SBS18 y otras firmas relacionadas con las exposiciones contribuyeron a mutaciones en tipos celulares específicos.
  • La espermatogonia exhibió la tasa de mutación más baja, atribuida a la reducción de los procesos mutacionales ubicuos y las tasas de división celular potencialmente más bajas.

Conclusiones:

  • El mantenimiento de la línea germinal y el soma implica mecanismos moleculares compartidos y distintos que influyen en la acumulación de mutaciones.
  • La baja tasa de mutación en la espermatogonia tiene implicaciones significativas para el origen de la variación genética humana.
  • Este estudio proporciona un mapa completo de los paisajes mutacionales celulares humanos, destacando las diferencias específicas del tipo de célula.