File(s) under permanent embargo

Reason: Restricted by author. A copy can be supplied under Section 51(2) of the Australian Copyright Act 1968 by submitting a document delivery request through your library, or by emailing document.delivery@monash.edu

Understanding testis development in mouse models of ATR-X syndrome

thesis
posted on 22.07.2021, 10:14 by Nayla Yazmin Leon Carlos
ATR-X syndrome is a Disorder of Sex Development (aka ‘intersex’) that affects males and is characterized by alpha thalassemia, intellectual disability, and genital anomalies (80%) including small testes. We developed mouse models to study the testis defects in ATR-X syndrome. We found that the testes begin to degenerate from mid-gestation because the Y chromosome is damaged when the ATRX protein is missing – this led us to identify an unusual novel structure we call a giant GATA4-PML NB in the nucleus of dying testicular Sertoli cells. In summary, ATRX is needed to compact the Y chromosome during testis growth.

History

Principal supervisor

Vincent Harley

Additional supervisor 1

Lee Wong

Year of Award

2021

Department, School or Centre

Molecular and Translational Sciences

Course

Master of Philosophy

Degree Type

MPHIL

Faculty

Faculty of Medicine, Nursing and Health Sciences