| Popis: |
This chapter summarizes the developments leading to our current understanding of the transcription factor doublesex and maleabnormal-3 related transcription factor 1 (DMRT1). This transcription factor is conserved in all vertebrates, and we attempt to capture this feature while emphasizing studies in humans and mice because they comprise the largest proportion of the DMRT1 literature. The conserved, gonad-specific expression profile of DMRT1, which signifies a dominant role in the testis, is conveyed through a detailed description of its profile in mice and the regulatory influences of environmental factors that influence both DMRT1 expression and gonad development in lower vertebrates. We discuss the mechanisms that control DMRT1 expression while highlighting the important attributes and limitations of the gene’s 5'-flanking region for accurate transcription and the potential significance of its highly conserved locus to gene expression and shared regulatory mechanisms. Functional insight on DMRT1 and its specific roles in Sertoli cells and germ cells is conveyed largely by a summary of phenotypic findings in Dmrt1-mutant mouse models and a study of DMRT1 deficiency in spermatogonial stem cells, which is then compared to what is known about DMRT1 in humans. |
