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Related Concept Videos

General Transcription Factors01:30

General Transcription Factors

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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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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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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Isolation and Profiling of Human Primary Mesenteric Arterial Endothelial Cells at the Transcriptome Level
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Clinical traits impacting human tissue transcriptomes.

Kaur Alasoo1

  • 1Institute of Computer Science, University of Tartu, Tartu, Estonia.

Cell Genomics
|February 13, 2023
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Summary
This summary is machine-generated.

This study links gene expression and splicing patterns across 46 human tissues to 21 demographic and clinical traits. Researchers used data from the Genotype-Tissue Expression (GTEx) Consortium to uncover these associations.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Human Physiology

Background:

  • The Genotype-Tissue Expression (GTEx) Consortium provides a valuable resource for understanding gene expression and splicing across diverse human tissues.
  • Investigating the relationship between genetic variations, gene expression, and splicing is crucial for deciphering complex biological mechanisms.

Discussion:

  • This research presents a comprehensive association analysis linking gene expression and splicing data with demographic and clinical traits.
  • The study leverages extensive data from the GTEx Consortium, covering 46 human tissues.
  • Analysis includes 21 distinct demographic and clinical factors, offering insights into their influence on molecular phenotypes.

Key Insights:

  • Identified significant associations between specific gene expression and splicing patterns and various demographic/clinical traits.
  • The findings highlight tissue-specific regulatory mechanisms influenced by these traits.
  • Provides a foundation for understanding how individual characteristics impact genome-wide molecular profiles.

Outlook:

  • Further research can explore the functional consequences of these identified associations.
  • These insights may contribute to personalized medicine approaches by linking molecular data to clinical outcomes.
  • Future studies could expand the analysis to include a larger number of traits and diverse populations.