ATRX and sex differentiation

Paisu Tang, Daniel J. Park, Jennifer A.Marshall Graves, Vincent R. Harley

    Research output: Contribution to journalReview articlepeer-review

    33 Citations (Scopus)

    Abstract

    Most interest in the gene encoding the α-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.

    Original languageEnglish
    Pages (from-to)339-344
    Number of pages6
    JournalTrends in Endocrinology and Metabolism
    Volume15
    Issue number7
    DOIs
    Publication statusPublished - Sept 2004

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