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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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The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
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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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Notch Signaling Pathway03:14

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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
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Related Experiment Video

Updated: Apr 15, 2026

Studying Wnt Signaling During Patterning of Conducting Airways
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Sox7 controls arterial specification in conjunction with hey2 and efnb2 function.

Dorien M A Hermkens1, Andreas van Impel2, Akihiro Urasaki2

  • 1Hubrecht Institute - Royal Netherlands Academy of Arts and Sciences and University Medical Centre Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands Erasmus MC Rotterdam, 's-Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands.

Development (Cambridge, England)
|April 3, 2015
PubMed
Summary
This summary is machine-generated.

Sox7 is crucial for proper blood vessel development in zebrafish, preventing abnormal connections. Loss of Sox7 function leads to vascular defects, highlighting its role in arterial specification.

Keywords:
Arterial-venous specificationSox7Vascular developmentZebrafish

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Area of Science:

  • Developmental Biology
  • Vascular Biology
  • Genetics

Background:

  • SoxF family members, including Sox7, Sox17, and Sox18, are implicated in arteriovenous specification and human diseases.
  • A detailed in vivo analysis of Sox7's role in vascular development was previously lacking compared to Sox17 and Sox18.

Purpose of the Study:

  • To investigate the in vivo function of Sox7 during vascular development using a zebrafish mutant model.
  • To elucidate the role of Sox7 in arterial specification and its interaction with other key developmental genes.

Main Methods:

  • Generation and analysis of zebrafish sox7 mutants.
  • In vivo imaging of transgenic zebrafish lines to observe vascular development.
  • In situ hybridization and genetic modulation of sox7, hey2, and efnb2.
  • Overexpression of Notch intracellular domain (NICD) to assess rescue effects.

Main Results:

  • sox7 mutants exhibited a short circulatory loop due to aberrant connections between the lateral dorsal aorta (LDA) and venous vessels (PHS or CCV).
  • Increased flt4 expression was observed in arterial endothelial cells at the sites of aberrant connections in sox7 mutants.
  • Genetic interactions between sox7, hey2, and efnb2 were demonstrated, with double and triple mutants showing shunt formation and arterial blockage.
  • Overexpression of NICD rescued the vascular defects in sox7 mutants, indicating Sox7 acts upstream of Notch signaling.

Conclusions:

  • Sox7 plays a critical role in arterial specification by regulating vascular connections.
  • Sox7 functions in conjunction with hey2 and efnb2 in maintaining proper arterial development.
  • Sox7 acts upstream of the Notch signaling pathway in a specific aspect of arterial development.