C720 Molecular Biology-Cellular Physiology

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C720 Molecular Biology

Task

Topic 2: “Defects in the long range craniofacial specific SOX9 gene enhancers in the isolated Pierre Robin sequence (PRS) disease.” (Mike)

Pierre Robin sequence (PRS) is a congenital craniofacial disease characterized by a single primary phenotypic defect: underdevelopment of the low jaw that leads to several secondary defects resulting in feeding and breathing difficulties. The major course of the disease is SOX9 gene mis-regulation during craniofacial development due to the defects in its distal enhancers.

In this essay you will focus on the molecular mechanisms of SOX9 gene regulation by the enhancers and how this process is mis-regulated resulting in PRC. 

Your essay (approximately 1000 words excluding figure legends and references) should be structured according to the pointers listed below, which will form part of the marking rubric, provided separately: 

1 A description of the molecular process the SOX9 gene enhancers control during normal craniofacial development. 

2 The molecular nature of the defect in the enhancers and resulting alterations in the molecular process they are involved in. 

3. A description of changes in the cellular physiology resulted from these defects. 

4. A description of the clinical consequences of the defect in the craniofacial specific distal SOX9 gene enhancers. 

C720 Molecular Biology

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