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

Mismatch Repair01:36

Mismatch Repair

Overview
Mutations01:39

Mutations

Overview
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Mutations01:35

Mutations

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...
Mismatch Repair01:20

Mismatch Repair

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...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

También podría leer

Artículos Relacionados

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

Ordenar por
Same author

Reduced-dose dexamethasone premedication for weekly paclitaxel: a retrospective cohort study of early hypersensitivity reactions and steroid-related toxicity.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer·2026
Same author

An Alignment Free Framework for Taxonomic Inference From Codon and Codon-Pair Usage.

Ecology and evolution·2026
Same author

Effect of genetically proxied plasma sclerostin levels on the risk of ischemic stroke: A drug-target Mendelian randomization study.

Medicine·2026
Same author

Application of risk priority number of failure mode and effects analysis to drug-variant pairs for severe cutaneous adverse reactions in Korean and American populations.

Pharmacogenetics and genomics·2026
Same author

Comparative analysis of social issues toward medical abortion using mifepristone in South Korea and the United States: Topic modeling and sentiment analysis.

PloS one·2026
Same author

Cell Lines CoCoPUTs: A Database of Codon and Codon-pair Usage Frequencies in Cell Lines.

Journal of molecular biology·2026

Video Experimental Relacionado

Updated: Jul 13, 2026

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria
10:27

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

Published on: November 10, 2015

Un polimorfismo "silencioso" en el gen MDR1 cambia la especificidad del sustrato.

Chava Kimchi-Sarfaty1, Jung Mi Oh, In-Wha Kim

  • 1Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA. kimchi@cber.fda.gov

Science (New York, N.Y.)
|December 23, 2006
PubMed
Resumen

Los polimorfismos sinónimos de un solo nucleótido (SNP) en el gen de resistencia a múltiples fármacos 1 (MDR1) alteran la función de la glicoproteína P (P-gp). Esto ocurre a pesar de los niveles de proteínas sin cambios, lo que sugiere que un cambio estructural afecta las interacciones farmacológicas.

Más Videos Relacionados

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice
06:10

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Published on: September 2, 2019

Videos de Experimentos Relacionados

Last Updated: Jul 13, 2026

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria
10:27

Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria

Published on: November 10, 2015

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice
06:10

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Published on: September 2, 2019

Área de la Ciencia:

  • La farmacogenómica es la farmacogenómica.
  • Biología Molecular Biología Molecular
  • Bioquímica de las proteínas Bioquímica de las proteínas

Sus antecedentes:

  • Sinónimos polimorfismos de un solo nucleótido (SNPs) por lo general no alteran las secuencias de proteínas o funciones.
  • El gen Multidrug Resistance 1 (MDR1) codifica la glicoproteína P (P-gp), una bomba de eflujo crucial involucrada en el transporte de drogas.
  • Estudios previos vincularon ciertos haplotipos MDR1 a la función alterada de P-gp.

Objetivo del estudio:

  • Para investigar el impacto funcional de un SNP sinónimo en el gen MDR1.
  • Para determinar si este SNP sinónimo afecta las interacciones de la glicoproteína P (P-gp) con medicamentos e inhibidores.

Principales métodos:

  • Análisis comparativo de tipo silvestre y polimórfico P-gp.
  • Evaluación de los niveles de expresión de ARNm y proteínas.
  • Evaluación de la conformación P-gp e interacciones con sustratos e inhibidores.

Principales resultados:

  • Se descubrió que un SNP sinónimo en el gen MDR1 altera las interacciones de fármacos e inhibidores de P-gp.
  • El tipo silvestre y el P-gp polimórfico exhibieron niveles similares de ARNm y proteínas.
  • Se observaron conformaciones alteradas de P-gp entre las variantes de tipo silvestre y las polimórficas.

Conclusiones:

  • Los SNPs sinónimos pueden afectar la función de las proteínas a través de mecanismos más allá de los cambios de secuencia de codificación.
  • La presencia de codones raros asociados con SNPs sinónimos puede afectar el plegamiento cotranslacional y la inserción de la membrana.
  • Este proceso puede conducir a conformaciones proteicas alteradas y sitios de interacción de sustrato / inhibidor modificados, lo que afecta la eficacia del fármaco y la farmacocinética.