Open Access. Powered by Scholars. Published by Universities.®

Digital Commons Network

Open Access. Powered by Scholars. Published by Universities.®

Genetics

Washington University in St. Louis

2020

Chd7

Articles 1 - 1 of 1

Full-Text Articles in Entire DC Network

Transcriptional And Epigenetic Regulation Of Cerebellar Development And Function, Naveen C. Reddy May 2020

Transcriptional And Epigenetic Regulation Of Cerebellar Development And Function, Naveen C. Reddy

Arts & Sciences Electronic Theses and Dissertations

Precise control of gene expression is essential for neural development and function. This control is regulated by the interplay of chromatin remodelers and transcription factors (TFs). To better understand these mechanisms involved in gene regulation, we pursue two questions: 1) what are the roles of the chromatin remodeler CHD7 in cerebellar development and 2) what are the roles of the MEF2 TF family in cerebellar function. CHD7 mutations are causative for CHARGE syndrome, a heterogeneous disorder affecting many organ systems, occurring in 1:10,000 newborns. Recent MRI studies have identified cerebellar hypoplasia and foliation defects in a large portion of CHARGE …