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Understanding testis development in mouse models of ATR-X syndrome

thesis
posted on 2021-07-22, 10:14 authored 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

Central Clinical School

Additional Institution or Organisation

Molecular and Translational Science (Hudson Institute)

Course

Master of Philosophy

Degree Type

MASTERS

Faculty

Faculty of Medicine, Nursing and Health Sciences