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General Transcription Factors01:30

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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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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
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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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Transcriptome Analysis of Single Cells
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Human genomics. The human transcriptome across tissues and individuals.

Marta Melé1, Pedro G Ferreira2, Ferran Reverter3

  • 1Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain. Harvard Department of stem cell and regenerative biology, Harvard University, Cambridge, MA, USA.

Science (New York, N.Y.)
|May 9, 2015
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Summary

Transcriptome variation across tissues and individuals reveals stable transcriptional signatures. While primary transcription drives cell specificity, splicing plays a key role in individual phenotypes, especially in the brain.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Gene expression regulation, including transcriptional and posttranscriptional processing, influences cellular and organismal traits.
  • Understanding transcriptome variation is crucial for deciphering biological complexity and disease association.

Purpose of the Study:

  • To investigate transcriptome variation patterns across human tissues and individuals using RNA sequencing data.
  • To identify the primary drivers of cellular specificity and the role of splicing in phenotypic variation.

Main Methods:

  • Utilized RNA sequencing data from the Genotype-Tissue Expression (GTEx) project.
  • Analyzed transcriptional signatures and splicing patterns across diverse human tissues and individuals.

Main Results:

  • Tissues display distinct, stable transcriptional signatures, even in postmortem samples.
  • Primary transcription is the main determinant of cellular specificity, with splicing playing a secondary role, except in the brain.
  • Genes with high interindividual expression variation are linked to disease candidates associated with sex, ethnicity, and age.

Conclusions:

  • Transcriptome variation is tissue-specific and influenced by both transcription and splicing.
  • Splicing variation, despite its stochastic nature, may significantly contribute to individual phenotypic differences, particularly in the brain.