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Trends Endocrinol Metab. 2004 Sep;15(7):339-44.

ATRX and sex differentiation.

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  • 1Department of Zoology, The University of Melbourne, Victoria 3010, Australia.


Most interest in the gene encoding the alpha-thalassemia, mental retardation, X-linked protein (ATRX) has traditionally been focused on its role in brain development and globin regulation. However, mutations in the ATRX gene also cause varying degrees of gonadal and urogenital abnormalities. These range from small testes to ambiguous external genitalia in XY individuals. ATRX is of great interest because this very large protein is one of the least understood proteins involved in mammalian sexual development. Although the biochemical role of ATRX remains unknown, recent and emerging evidence implicates ATRX in chromatin remodeling. We review what is known about ATRX as a chromatin remodeling protein, and its role in mammalian sex differentiation.

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