Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome
Stefan Bagheri-Fam, Anthony Argentaro, Terje Svingen, Alexander N Combes, Andrew H Sinclair, Peter Koopman, Vincent R Harley
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2011
X-linked ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome in males is characterized by mental retardation, facial dysmorphism, alpha thalassemia and urogenital abnormalities, including small testes. It is unclear how mutations in the chromatin-remodeling protein ATRX cause these highly specific clinical features, since ATRX is widely expressed during organ development. To investigate the mechanisms underlying the testicular defects observed in ATR-X syndrome, we generated ScAtrxKO (Sertoli cell Atrx knockout) mice with Atrx specifically inactivated in the supporting cell lineage (Sertoli cells) of the mouse testis. ScAtrxKO mice developed small testes and discontinuous tubule..View full abstract
Awarded by National Health and Medical Research Council (NHMRC, Australia)
This work was supported by the National Health and Medical Research Council (NHMRC, Australia) (334314 to V. R. H., P. K. and A. S.) and National Health and Medical Research Council CJ Martin fellowship to A.A.