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Pleiotropy01:33

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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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Related Experiment Video

Updated: Jul 2, 2026

Direct Reprogramming of Mouse Fibroblasts into Melanocytes
09:38

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Published on: August 27, 2021

The transcription factor Sox5 modulates Sox10 function during melanocyte development.

C Claus Stolt1, Petra Lommes, Simone Hillgärtner

  • 1Institut für Biochemie, Emil-Fischer-Zentrum, Universität Erlangen, Fahrstrasse 17, D-91054 Erlangen, Germany.

Nucleic Acids Research
|August 16, 2008
PubMed
Summary

The transcription factor Sox5 modulates Sox10 activity in melanocyte development. Loss of Sox5 partially rescues defects in Sox10 heterozygous mice, revealing a regulatory role in the melanocyte lineage.

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Area of Science:

  • Developmental biology
  • Molecular genetics
  • Cell biology

Background:

  • Sox5 is a transcription factor found in neural crest cells and glia.
  • Sox5 expression continues in the melanocyte lineage after neural crest specification.

Purpose of the Study:

  • To investigate the role of Sox5 in mouse melanocyte development.
  • To elucidate the mechanism by which Sox5 interacts with Sox10 in the melanocyte lineage.

Main Methods:

  • Analysis of Sox5-deficient mice and Sox10 heterozygous mice.
  • Assessment of melanoblast and melanocyte generation.
  • Investigation of gene expression and protein interactions at regulatory regions.

Main Results:

  • Sox5 deficiency alone does not affect melanocyte development.
  • Loss of Sox5 partially rescues reduced melanoblast generation in Sox10 heterozygous mice.
  • Sox5 modulates Sox10 activity by recruiting CtBP2 and HDAC1, inhibiting Sox10-dependent transcription.

Conclusions:

  • Sox5 plays a modulatory role in the melanocyte lineage, primarily by regulating Sox10 activity.
  • Sox5 acts through binding site competition and corepressor recruitment to control Sox10 function.
  • Understanding Sox5-Sox10 interaction is crucial for comprehending melanocyte development and regulation.