Document Detail

Genetic regulation of pituitary gland development in human and mouse.
MedLine Citation:
PMID:  19837867     Owner:  NLM     Status:  MEDLINE    
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke's pouch. These factors dictate organ commitment, cell differentiation, and cell proliferation within the anterior pituitary. Abnormalities in these processes are associated with congenital hypopituitarism, a spectrum of disorders that includes syndromic disorders such as septo-optic dysplasia, combined pituitary hormone deficiencies, and isolated hormone deficiencies, of which the commonest is GH deficiency. The highly variable clinical phenotypes can now in part be explained due to research performed over the last 20 yr, based mainly on naturally occurring and transgenic animal models. Mutations in genes encoding both signaling molecules and transcription factors have been implicated in the etiology of hypopituitarism, with or without other syndromic features, in mice and humans. To date, mutations in known genes account for a small proportion of cases of hypopituitarism in humans. However, these mutations have led to a greater understanding of the genetic interactions that lead to normal pituitary development. This review attempts to describe the complexity of pituitary development in the rodent, with particular emphasis on those factors that, when mutated, are associated with hypopituitarism in humans.
Daniel Kelberman; Karine Rizzoti; Robin Lovell-Badge; Iain C A F Robinson; Mehul T Dattani
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2009-10-16
Journal Detail:
Title:  Endocrine reviews     Volume:  30     ISSN:  1945-7189     ISO Abbreviation:  Endocr. Rev.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-12-09     Completed Date:  2010-02-15     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  8006258     Medline TA:  Endocr Rev     Country:  United States    
Other Details:
Languages:  eng     Pagination:  790-829     Citation Subset:  IM    
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MeSH Terms
Cell Differentiation / genetics,  physiology
Gene Expression Regulation / genetics,  physiology*
Hypothalamus / embryology,  physiology
Morphogenesis / genetics,  physiology
Pituitary Gland / embryology*,  physiology
Pituitary Hormones / genetics,  physiology
Transcription Factors / genetics,  physiology*
Grant Support
G0400023//Medical Research Council; MC_U117531708//Medical Research Council; MC_U117562207//Medical Research Council; //Medical Research Council
Reg. No./Substance:
0/Pituitary Hormones; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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