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Videos de Conceptos Relacionados

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Multi-species Conserved Sequences

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Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
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Many proteins’ biological role depends on their interactions with their ligands, small molecules that bind to specific locations on the protein known as ligand-binding sites. Ligand-binding sites are often conserved among homologous proteins as these sites are critical for protein function.
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Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Video Experimental Relacionado

Updated: Aug 1, 2025

Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
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Los impactos funcionales y evolutivos de las deleciones específicas del ser humano en los elementos conservados

James R Xue1,2, Ava Mackay-Smith3, Kousuke Mouri4

  • 1Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Science (New York, N.Y.)
|April 27, 2023
PubMed
Resumen

Las deleciones específicas del ser humano (hCONDEL) afectan el desarrollo y la función del cerebro. Estos cambios genéticos revelan mecanismos evolutivos que impulsan rasgos humanos únicos y ofrecen información sobre trastornos neurológicos.

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Área de la Ciencia:

  • La genómica
  • Biología evolutiva
  • La neurociencia

Sus antecedentes:

  • Las secuencias genómicas conservadas pueden alterarse en los seres humanos, lo que podría explicar los rasgos humanos únicos.
  • Comprender estas alteraciones es clave para identificar la base genética de la evolución humana.

Objetivo del estudio:

  • Identificar y caracterizar las deleciones conservadas específicas del ser humano (hCONDEL).
  • Investigar el impacto funcional de hCONDELs en la regulación genética y los rasgos humanos, en particular el desarrollo del cerebro.

Principales métodos:

  • Identificación y caracterización de 10 032 hCONDEL a partir de datos genómicos.
  • Análisis de conjuntos de datos genéticos, epigenómicos y transcriptómicos para el enriquecimiento de las funciones cerebrales.
  • Ensayos de referencia masivamente paralelos en seis tipos de células para evaluar la actividad reguladora de las hCONDEL.
  • Reversión experimental de un hCONDEL a su secuencia ancestral para observar cambios en la expresión génica.

Principales resultados:

  • Descubrieron 10.032 hCONDEL, con un promedio de 2,56 pares de bases, enriquecidos para las funciones cerebrales.
  • Se identificaron 800 hCONDEL con actividad reguladora significativa, con una función de mejora de la mitad.
  • Destacados hCONDELs que afectan a los genes de desarrollo cerebral como HDAC5, CPEB4 y PPP2CA.
  • Se demostró que la reversión de un hCONDEL altera la expresión de LOXL2 y los genes relacionados con la mielinización y la función sináptica.

Conclusiones:

  • hCONDELs son una fuente significativa de variación genética específica del ser humano que afecta a la regulación de los genes.
  • Estas deleciones juegan un papel en la evolución del desarrollo y la función del cerebro humano.
  • Los hCONDEL identificados proporcionan un recurso valioso para estudiar la evolución humana y los rasgos asociados.