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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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Transcription Factors02:16

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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Pleiotropy01:33

Pleiotropy

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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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TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

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The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...
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Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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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.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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Canonical Wnt Signaling Pathway02:54

Canonical Wnt Signaling Pathway

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The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which...
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HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
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T-Box Genes in Human Development and Disease.

T K Ghosh1, J D Brook1, A Wilsdon1

  • 1School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, United Kingdom.

Current Topics in Developmental Biology
|January 7, 2017
PubMed
Summary
This summary is machine-generated.

T-box genes are crucial for vertebrate development and gene regulation. Mutations in these genes are linked to human developmental disorders, cancer, and cardiomyopathy.

Keywords:
Congenital disordersDevelopmental regulatorsMutationsT-box genesTranscription factors

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Area of Science:

  • Developmental Biology
  • Genetics
  • Human Disease

Background:

  • T-box genes encode transcription factors regulating early embryogenesis in vertebrates.
  • These proteins feature a conserved DNA-binding T-domain.
  • T-box gene dysfunction is implicated in human developmental disorders.

Purpose of the Study:

  • To review the roles of ten specific T-box genes.
  • To emphasize the involvement of T-box genes in human diseases.

Main Methods:

  • Literature review of T-box gene functions.
  • Analysis of gene expression patterns and mutation effects.

Main Results:

  • T-box genes are essential for precise embryonic development.
  • Mutations lead to functional protein deficiencies, causing diseases.
  • Specific T-box genes are associated with cancer and cardiomyopathy.

Conclusions:

  • T-box genes are vital regulators with significant implications for human health.
  • Further research into T-box genes can illuminate disease mechanisms and potential therapies.