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Pleiotropy01:33

Pleiotropy

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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Updated: Jun 25, 2026

An Optimized Protocol for Electrophoretic Mobility Shift Assay Using Infrared Fluorescent Dye-labeled Oligonucleotides
09:58

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Sabina Benko1, Judy A Fantes, Jeanne Amiel

  • 1INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France.

Nature Genetics
|February 24, 2009
PubMed
Summary

Researchers identified a 17q24 locus linked to Pierre Robin sequence (PRS), a cleft palate subgroup. Genetic disruptions affecting SOX9 regulation may cause PRS development.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Anomalies

Background:

  • Pierre Robin sequence (PRS) is a significant subgroup of cleft palate, characterized by mandibular hypoplasia, glossoptosis, and airway obstruction.
  • Understanding the genetic basis of PRS is crucial for diagnosis and potential therapeutic interventions.

Observation:

  • Linkage analysis identified a 17q24 locus associated with PRS.
  • Translocation breakpoints and microdeletions were observed in regions flanking the SOX9 gene.
  • A heterozygous point mutation was found in a conserved DNA region with enhancer activity, located centromeric to the breakpoint cluster.

Findings:

  • The identified mutation disrupted enhancer function and altered MSX1 transcription factor binding.
  • A 3-Mb region between microdeletions showed specific chromatin changes in Sox9-expressing cells in developing mouse mandibles.
  • Evidence suggests PRS can arise from disrupted SOX9 regulation due to altered long-range cis-regulatory elements.

Implications:

  • This study implicates dysregulation of SOX9 by long-range cis-regulatory elements in the etiology of PRS.
  • The findings provide a molecular basis for understanding PRS pathogenesis and may guide future genetic research.
  • Identifying specific regulatory elements offers potential targets for future diagnostic or therapeutic strategies in PRS.