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Videos de Conceptos Relacionados

Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
DNA as a Genetic Template02:05

DNA as a Genetic Template

Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
DNA as a Genetic Template02:05

DNA as a Genetic Template

Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...

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Video Experimental Relacionado

Updated: May 7, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Los metilomas del ADN humano en la resolución básica muestran diferencias epigenómicas generalizadas.

Ryan Lister1, Mattia Pelizzola, Robert H Dowen

  • 1Genomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, California 92037, USA.

Nature
|October 16, 2009
PubMed
Resumen

Este estudio mapea la metilación del ADN en todo el genoma de las células humanas, revelando patrones distintos en las células madre embrionarias frente a los fibroblastos. Estos hallazgos ofrecen nuevos conocimientos sobre la regulación epigenética durante el desarrollo y la enfermedad.

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Área de la Ciencia:

  • La epigenética es la epigenética.
  • La genómica es la genómica.
  • Biología del desarrollo Biología del desarrollo.

Sus antecedentes:

  • La metilación de la citosina del ADN es una marca epigenética crucial que regula la expresión génica, el desarrollo y las enfermedades.
  • Comprender los patrones de metilación es clave para descifrar los procesos celulares.

Objetivo del estudio:

  • Generar los primeros mapas de resolución de una sola base de todo el genoma de la metilación del ADN en células madre embrionarias humanas y fibroblastos fetales.
  • Para comparar estos mapas de metilación con el transcriptoma y los datos epigenómicos.
  • Investigar el papel de la metilación no-CG en las células madre embrionarias.

Principales métodos:

  • Secuenciación de bisulfitos en todo el genoma para mapeo de la metilación del ADN con resolución de una sola base.
  • Análisis comparativo de la metilación del ADN, el ARNm, el ARN pequeño, las modificaciones de las histonas y las interacciones ADN-proteína.
  • Análisis de los cambios de metilación durante la diferenciación inducida y la reprogramación.

Principales resultados:

  • Se identificaron diferencias significativas en la composición y los patrones de metilación del ADN entre las células madre embrionarias y los fibroblastos.
  • Se encontró que casi el 25% de la metilación en células madre embrionarias estaba en un contexto no CG, enriquecido en cuerpos genéticos.
  • Se observó que la metilación no-CG es dinámica, desapareciendo en la diferenciación y restaurada en las células madre pluripotentes inducidas.
  • Localizó cientos de regiones diferencialmente metiladas cerca de genes de pluripotencia y diferenciación.

Conclusiones:

  • Las células madre embrionarias humanas exhiben patrones únicos de metilación no-CG potencialmente involucrados en la regulación de la pluripotencia.
  • Los fibroblastos muestran una hipometilación generalizada relacionada con una actividad transcripcional reducida.
  • Estos epigenomas de referencia sirven como base para el estudio de la metilación del ADN en el desarrollo humano y las enfermedades.