Journal article

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

Abstract

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..

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