Developmental Etiologies of Pierre Robin Sequence BY JOHNCLAY

Developmental Etiologies of Pierre Robin Sequence BY: JOHN-CLAY CURTIS

Overview �Background on Pierre Robin Sequence �Wnt signaling pathway �SOX 9 gene �The role of SOX 9 gene

Background of Pierre Robin Sequence? �Lannelongue and Menard �Syndrome Vs. Sequence � 1 in 2, 000 to 30, 000 births �Isolated Vs. Featured

Unhappy Triad �Micrognathia �Glossoptosis �Cleft palate formation

Micrognathia

Glossoptosis

Cleft palate formation

Development overview �Chromosomal irregularities �Chromosome 17 �Inactivation of specific proteins �β-catenin

Overview �Background on Pierre Robin Sequence �Wnt signaling pathway �SOX 9 gene �The role of SOX 9 gene

Wnt signaling pathway Canonical Noncanonical �Canonical Wnt pathway �Noncanonical planar cell polarity pathway �Noncanonical Wnt/calcium pathway

Canonical Wnt pathway �Number 1 job: Produce an accumulation of β-catenin �Expression Vs. Degradation

Expression of β-catenin

Degradation of β-catenin Absent

Overview �Background on Pierre Robin Sequence �Wnt signaling pathway �SOX 9 gene �The role of SOX 9 gene

SOX 9 gene � Location: long arm of chromosome 17 � Craniofacial development � SOX 9 protein � Transcription factor Chromosome 17

Overview �Background on Pierre Robin Sequence? �Wnt signaling pathway �SOX 9 gene �The role of SOX 9 gene

The role of SOX 9 gene �Craniofacial development �Sri Ramachandra University �Association between SOX 9 and Pierre Robin Sequence

Results of SOX 9 gene: Exon 1

Results of SOX 9: Exon 2

DNA quality check

Experimental conclusion �Overall it was successful �Deletions of SOX 9 � Positive and Negative

Conclusion �Background on Pierre Robin Sequence �Wnt signaling pathway �SOX 9 gene �The role of SOX 9 gene

Thank You • HANOVER COLLEGE BIOLOGY DEPARTMENT • RICK & LESLIE CURTIS • FRIENDS