The SOX gene family: function and regulation in testis determination and male fertility maintenance

Abstract

The Sox (Sry-type HMG box) genes encode a group of proteins characterized by the existence of an SRY (sex-determining region on Y chromosome) box, a 79 amino acid motif that encodes an HMG (high mobility group) domain which can bind and bend DNA, which is the only part in SRY that is conserved between species. The Sox gene family functions in many aspects in embryogenesis, including testis development, CNS neurogenesis, oligodendrocyte development, chondrogenesis, neural crest cell development and other respects. The Sox gene family was originally identified through homology with Sry. The Sry gene is the mammalian testis-determining gene. It functions to open the testis determination pathway directly and close the ovary pathway indirectly. Sry and Sox9 are the most important two genes expressed during testis determination. Besides, researchers have found that Sox8 and Sox9 have functions in the male fertility maintenance after birth. In this review, information was evaluated from mouse or from human if not mentioned otherwise.

Molecular Mechanisms Regulating Impaired Neurogenesis of Fragile X Syndrome Human Embryonic Stem Cells

“…In addition, we found that SOX9 expression is positively affected by FMRP levels. SOX9 is involved in regulation of cell fate in several lineages: neural tissue [56], including neural crest [25], and glia [57], testis [58], and chondrocytes [59], which are all known to be affected in FXS. Indeed, FXS patients exhibit mental retardation and autism (an effect on the nervous system), macroorchidism (in males, testis), hyperextensible joints (chondrocytes), and stereotypic faces (neural crest).…”

Structure-Function Relationships in Human Testis-determining Factor SRY

“…Because the mutation affects a core Trp residue that is invariant among Sry and Sox domains (consensus position 15 (36,37)) and is conserved as an aromatic residue (Phe or Tyr) among other families of HMG boxes (14), including Schizosaccharomyces pombe mating factor spMATA-mc (Fig. 13) (65), we exploited this clinical case report as a starting point for analysis of structure-activity relationships.…”

“…This aromatic cluster is invariant among mammalian Sry sequences (Fig. 1D) and broadly conserved among metazoan Sox sequences (36,37). Because of such conservation and its DSD-associated mutation, we sought to investigate the contribution of Trp-70 to the structure and function of SRY.…”

De novotranscriptome sequencing to identify the sex-determination genes inHyriopsis schlegelii

“…10,11) In bipotential, undifferentiated gonads, Sox9 induces testis differentiation gene expression and promotes Sertoli cell differentiation. 12) There are two independent sexdetermination pathways in female development: the Foxl2 transcription factor pathway and the Rspo1/β-catenin pathway. 4,5) In mature female Foxl2 gene knockout mice, ovaries differentiate into testes.…”