Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency
Article Abstract:
Human and mouse TPIT gene mutations have been found to be the cause of early- onset pituitary adrenocorticotropin (ACTH) deficiency, or isolated ACTH deficiency (IAD), but not of juvenile deficiency . Congenital early onset IAD is fairly homogeneous as a clinical entity and caused by recessive transmission of loss-of-funct ion mutations in the TPIT (recessive) gene. Tpit is a very cell-restricted transcription factor needed for expression of th e pro-opiomelanocortin (POMC) gene and also for final differentiation of the pituitary corticotroph lineage.
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2003
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A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins
Article Abstract:
A T box factor, Tpit, apparently present only in the two pituitary POMC-expressing lineages, the melanotrophs and corticotrophs, has been found to activate POMC transcription with Pitx homeoprotein cooperation. In the cooperation, the two factors bind to contiguous sites in the same regulatory element. TPIT gene mutations were found in patients with isolated deficiency of pituitary POMC-derived ACTH.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2001
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Tpit determines alternate fates during pituitary cell differentiation
Article Abstract:
The T-box transcription factor Tpit has been found to determine alternate fates during pituitary cell differentiation. Tpit is known to be a cell-specific factor for expression of th e pituitary-proopiomelanocortin (POMC) gene.
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2003
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