Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients

• Published in: Brazilian journal of medical and biological research Vol. 37; no. 1; pp. 145 - 150
• Main Authors: Domenice, S, Corrêa, R V, Costa, E M F, Nishi, M Y, Vilain, E, Arnhold, I J P, Mendonca, B B
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Associação Brasileira de Divulgação Científica 01.01.2004
• Subjects: BIOLOGY; DAX-1 Orphan Nuclear Receptor; DAX1 gene; Disorders of Sex Development - genetics; DNA-Binding Proteins - genetics; Genes, sry - genetics; Gonadal Dysgenesis - genetics; Humans; Male; MEDICINE, RESEARCH & EXPERIMENTAL; Mutation - genetics; Proto-Oncogene Proteins - genetics; Receptors, Retinoic Acid - genetics; Repressor Proteins - genetics; Sex Determination Processes; Sex reversal; SF1 gene; SRY gene; Wnt Proteins; WNT4 gene; Wnt4 Protein; DAX1 gene; SRY gene; SF1 gene; Sex reversal; WNT4 gene

In most mammals, male development is triggered by the transient expression of the SRY gene, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad. Mutation studies have identified several genes essential for early gonadal deve...