An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
Nature, 1994•nature.com
X-linked adrenal hypoplasia congenita is a developmental disorder of the human adrenal
gland that results in profound hormonal deficiencies and is lethal if untreated. We have
isolated the gene responsible for the disease, DAX-1, which is deleted or mutated in X-
linked adrenal hypoplasia patients. DAX-1 encodes a new member of the nuclear hormone
receptor super-family displaying a novel DNA-binding domain. The DAX-1 product acts as a
dominant negative regulator of transcription mediated by the retinoic acid receptor.
gland that results in profound hormonal deficiencies and is lethal if untreated. We have
isolated the gene responsible for the disease, DAX-1, which is deleted or mutated in X-
linked adrenal hypoplasia patients. DAX-1 encodes a new member of the nuclear hormone
receptor super-family displaying a novel DNA-binding domain. The DAX-1 product acts as a
dominant negative regulator of transcription mediated by the retinoic acid receptor.
Abstract
X-linked adrenal hypoplasia congenita is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. We have isolated the gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hypoplasia patients. DAX-1 encodes a new member of the nuclear hormone receptor super-family displaying a novel DNA-binding domain. The DAX-1 product acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor.
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