SOX9 GENE
Budget: ₹1,500 – ₹12,500 INR
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.
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.