Open AccessActivating transcription factor 3: a hormone responsive gene in the etiology of hypospadias
Author(s) -
Ana BelezaMeireles,
Virpi Töhönen,
Cilla Söderhäll,
Christian Schwentner,
Christian Radmayr,
Ingrid Kockum,
Agneta Nordenskjöld
Publication year - 2008
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje-07-0793
Subject(s) - hypospadias , single nucleotide polymorphism , foreskin , biology , endocrinology , medicine , atf3 , haploinsufficiency , gene expression , gene , genetics , genotype , promoter , phenotype , cell culture
Hypospadias is a common inborn error of the genital development, whose complex etiology remains elusive. Defects of the androgen metabolism and activity have been found in a subset of boys with hypospadias. Moreover, the balance between androgens and estrogens seems to be important to the proper male genital development. Activating transcription factor 3 (ATF3), an estrogen responsive gene, has been reported to be expressed during sexual development and up-regulated in hypospadic genital skin. We investigated ATF3 as a candidate gene for hypospadias.
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