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Long-range regulation at the SOX9 locus in development and disease

C T Gordon1, T Y Tan, S Benko

  • 1Craniofacial Development Laboratory, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Journal of Medical Genetics
|May 29, 2009
PubMed

Insights

SOX9 gene mutations cause skeletal malformations like campomelic dysplasia. Novel genetic findings reveal regulatory elements far upstream of SOX9 control its expression, impacting craniofacial development.

Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • SOX9 gene mutations are linked to congenital skeletal malformations, notably campomelic dysplasia (CD).
  • Altered SOX9 expression due to upstream translocations severely impacts skeletal development.
  • A complex regulatory region, initially thought to be ~1 Mb upstream, controls SOX9 transcription.

Purpose of the Study:

  • To review the role of SOX9 in craniofacial and skeletal development.
  • To discuss novel genetic lesions affecting SOX9 regulation.
  • To explore the concept of long-range tissue-specific enhancers controlling SOX9.

Main Methods:

  • Review of existing literature on SOX9 mutations and translocations.
  • Analysis of patient data with campomelic dysplasia and Pierre Robin sequence.
  • Clustering of translocation breakpoints upstream of SOX9.

Main Results:

  • Disruptions over 1 Mb upstream of SOX9 are associated with isolated Pierre Robin sequence (PRS).
  • Translocation breakpoints cluster into three groups, with severity correlating inversely with distance from SOX9.
  • Evidence supports tissue-specific enhancers acting over large distances to regulate SOX9.

Conclusions:

  • Novel lesions surrounding SOX9 reinforce the existence of long-range regulatory elements.
  • These elements are crucial for SOX9 gene regulation during craniofacial development.
  • The SOX9 control region likely extends further, offering potential for discovering new regulatory elements.

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