CLONING AND SEQUENCE-ANALYSIS OF THE HUMAN GENE ENCODING STEROIDOGENIC FACTOR-1

The orphan nuclear receptor steroidogenic factor 1 (SF-1) plays key ro les in endocrine development and function. Initially identified as a p ositive regulator of the cytochrome P450 steroid hydroxylases, analyse s of knockout mice deficient in SF-1 revealed that SF-1 is essential f or adrenal and gonadal development, pituitary gonadotropin expression and formation of the ventromedial hypothalamic nucleus. Although more limited in suggested that SF-1 is important for differentiated functio n in adrenocortical and gonadotrope adenomas. In the hope of extending our understanding of SF-1 function by identifying possible roles of S F-1 in clinical endocrine disorders, we isolated the FTZ-F1 gene encod ing human SF-1 and mapped it to chromosome 9q33. In this report, we ch aracterize the sequence and structural organization of the human cDNA and gene encoding SF-1, providing new insights into comparative aspect s of SF-1 structure that will facilitate efforts to study the role of this transcription factor in human endocrine disorders.