Multifunctional role of steroidogenic factor 1 and disorders of sex development.
Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1.
Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, SP, Brazil. mmello@unicamp.br
Maricilda Palandi de
MP
Mello
Emerson Salvador de Souza
ES
França
Helena Campos
HC
Fabbri
Andréa Trevas
AT
Maciel-Guerra
Gil
G
Guerra-Júnior
D002648:Child; D012734:Disorders of Sex Development / Q000145:classification / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D054339:Steroidogenic Factor 1 / Q000235:genetics*
C515057:NR5A1 protein, human; D054339:Steroidogenic Factor 1