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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Chromatin Position Affects Gene Expression02:35

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Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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Efectos genéticos en la expresión génica en los tejidos humanos

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El proyecto Genotype-Tissue Expression (GTEx) revela cómo las variaciones genéticas influyen en la expresión génica en 44 tejidos humanos. Esta investigación mejora la comprensión de los rasgos genéticos y las enfermedades mediante el mapeo de los mecanismos de regulación genética.

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Área de la Ciencia:

  • La genómica
  • La genética humana
  • Biología molecular

Sus antecedentes:

  • Comprender la variación genética humana es clave para identificar los mecanismos celulares detrás de los rasgos y las enfermedades.
  • El proyecto Genotype-Tissue Expression (GTEx) tiene como objetivo mapear la variabilidad de la expresión génica en los tejidos e individuos humanos.

Objetivo del estudio:

  • Para caracterizar los efectos genéticos en la expresión génica en 44 diversos tejidos humanos.
  • Identificar los efectos genéticos locales e intercromosómicos que influyen en la regulación de los genes.

Principales métodos:

  • Análisis de datos de expresión génica de 44 tejidos humanos.
  • Identificación de las variantes genéticas que afectan a los niveles de expresión génica.
  • Caracterización de la especificidad tisular y las propiedades funcionales de los efectos genéticos.

Principales resultados:

  • La variación genética local afecta la expresión génica en la mayoría de los genes estudiados.
  • Se identificaron efectos genéticos intercromosómicos para 93 genes y 112 loci.
  • Se caracterizaron patrones de especificidad tisular y propiedades funcionales de los efectos genéticos.

Conclusiones:

  • Los datos multi-tejido y multi-individuales de GTEx permiten la identificación de genes y vías afectadas por la variación asociada a la enfermedad.
  • Este enfoque proporciona información mecanicista sobre la regulación genética y la base genética de las enfermedades humanas.