
Mutations in ATRX (alpha-thalassaemia and mental retardation on the X-chromosome) can give rise to ambiguous or female genitalia in XY males, implying a role for ATRX in testicular development. Studies on ATRX have mainly focused on its crucial role in brain development and α-globin regulation; however, little is known about its function in sexual differentiation and its expression in the adult testis. Here we show that the ATRX protein is present in adult human and rat testis and is expressed in the somatic cells; Sertoli, Leydig, and peritubular myoid cells, and also in germ cells; spermatogonia and early meiotic spermatocytes. The granular pattern of ATRX staining is consistent with that observed in other cell-types and suggests a role in chromatin regulation. The findings suggest that ATRX in humans may play a role in adult spermatogenesis as well as in testicular development.
Male, X-linked Nuclear Protein, 571, Sex Differentiation, Chromosomal Proteins, Non-Histone, enzymology, Disorders of Sex Development, prenatal dev ATR-X syndrome, chromatin assembly and disassembly, Leydig cell, male, nuclear protein, Spermatocytes, X-Linked Intellectual Disability, Testis, Germ cells, Animals, Humans, Keywords: ATRX protein, animal, genetics, human, female genital system, Spermatogenesis, Sertoli Cells, nonhistone protein, article, DNA Helicases, <i>ATR-X</i> syndrome, Leydig Cells, Nuclear Proteins, Genitalia, Female, Chromatin Assembly and Disassembly, Spermatogonia, Rats, helicase, female, Testis development, physiology, Female, alpha thalassemia, metabolism
Male, X-linked Nuclear Protein, 571, Sex Differentiation, Chromosomal Proteins, Non-Histone, enzymology, Disorders of Sex Development, prenatal dev ATR-X syndrome, chromatin assembly and disassembly, Leydig cell, male, nuclear protein, Spermatocytes, X-Linked Intellectual Disability, Testis, Germ cells, Animals, Humans, Keywords: ATRX protein, animal, genetics, human, female genital system, Spermatogenesis, Sertoli Cells, nonhistone protein, article, DNA Helicases, <i>ATR-X</i> syndrome, Leydig Cells, Nuclear Proteins, Genitalia, Female, Chromatin Assembly and Disassembly, Spermatogonia, Rats, helicase, female, Testis development, physiology, Female, alpha thalassemia, metabolism
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