Investigating the Role of SATB1 in Eye Development and Craniofacial Disorders

Investigating the Role of SATB1 in Eye Development and Craniofacial Disorders

Presenter(s)

Achyut Katti

Comments

3:00-4:15, Kennedy Union Ballroom

Description

Eye development is a highly regulated process that relies on axial patterning involving three primary axes: Antero-Posterior (AP), Dorso-Ventral (DV), and Proximo-Distal (PD). Among these, DV axis formation is the first lineage restriction event in eye development, and any disruption in DV patterning can lead to craniofacial developmental disorders like Den Hoed-de Boer-Voisin (DHDBV) syndrome and Developmental delay with Dysmorphic Facies and Dental Anomalies (DEFDA) in humans. In Drosophila, defective proventriculus (Dve), a K-50 homeodomain transcription factor (Drosophila ortholog of human SATB1) serves as a dorsal fate selector gene essential for DV patterning. Loss of function of Dve results in dorsal eye enlargement, while its gain of function causes complete eye suppression. Through structure-function analysis, our lab has identified the specific domains of the Dve protein responsible for these effects. We aim to extend these findings to humans by investigating the functional conservation between Dve and special AT-rich sequence binding protein 1 (SATB1), as mutations in SATB1 have been associated with craniofacial developmental disorders. To explore this, we have developed genetically engineered flies with mutated domains or combinations of these domains to understand their roles in eye development. This study will have a significant bearing on developmental mechanisms, growth and patterning and understanding the etiology of early developmental birth disorders.

Publication Date

4-23-2025

Project Designation

Graduate Research

Primary Advisor

Madhuri Kango-Singh, Amit Singh

Primary Advisor's Department

Biology

Keywords

Stander Symposium, College of Arts and Sciences

Institutional Learning Goals

Scholarship; Scholarship; Scholarship

Investigating the Role of SATB1 in Eye Development and Craniofacial Disorders

Share

COinS