Video Experimental Relacionado
Updated: Jun 17, 2026
11:50
Genome-Wide Mapping of Histone Modifications and Transcription Factor Binding Sites in Neuroendocrine Small Cell Lung Cancer Cell Lines Using CUT&RUN
Published on: April 3, 2026
La secuenciación sistemática del carcinoma renal revela la inactivación de los genes modificadores de la histona
Gillian L Dalgliesh1, Kyle Furge, Chris Greenman
1Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Nature
|January 8, 2010
Resumen
Los investigadores identificaron nuevas mutaciones genéticas en el carcinoma de células renales de células claras (CCRCC), un cáncer de riñón común. Estas mutaciones afectan a los genes involucrados en la modificación de la histona, revelando una diversidad genética significativa más allá de las mutaciones genéticas de VHL.
Área de la Ciencia:
- Genética La genética.
- Oncología Oncología.
- Biología Molecular Biología Molecular
Sus antecedentes:
- El carcinoma renal de células claras (CCRCC) es el cáncer de riñón más frecuente en adultos.
- La mayoría de los casos de ccRCC presentan mutaciones inactivadoras en el gen VHL.
- Las mutaciones somáticas en genes de cáncer conocidos son poco frecuentes en el ccRCC.
Objetivo del estudio:
- Para aclarar aún más el panorama genético de ccRCC.
- Identificar nuevos genes y vías implicadas en el desarrollo del ccRCC.
Principales métodos:
- Secuenciación de 101 casos de ccRCC en 3.544 genes codificadores de proteínas.
- Identificación y análisis de mutaciones somáticas.
Principales resultados:
- Se han descubierto mutaciones inactivadoras en SETD2 (histona H3 lisina 36 metiltransferasa) y JARID1C/KDM5C (histona H3 lisina 4 desmetilasa).
- Se han confirmado mutaciones en UTX/KMD6A (histona H3 lisina 27 desmetilasa).
- Identificó mutaciones NF2 en casos de ccRCC sin mutaciones VHL y otros genes de cáncer potencial.
Conclusiones:
- Las mutaciones en los componentes de la maquinaria de modificación de la cromatina juegan un papel en la patogénesis del ccRCC.
- Existe una heterogeneidad genética significativa en el ccRCC, que se extiende más allá de las mutaciones del gen VHL.
- Las pruebas genéticas sistemáticas son cruciales para una comprensión completa de la arquitectura genética somática del ccRCC.
Más Videos Relacionados
Videos de Conceptos Relacionados
01:37Epigenetic Regulation
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
01:46Epigenetic Regulation
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
02:32Histone Modification
The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone deacetylase,...
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone deacetylase,...
02:32Histone Modification
The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone deacetylase,...
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone deacetylase,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
02:25Spreading of Chromatin Modifications
The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
Writers
The writer is an enzyme that can...
Writers
The writer is an enzyme that can...