The molecular basis for developmental disorders of the pituitary gland in man.
The development of the anterior pituitary gland is dependent upon a cascade of signalling molecules and developmental genes that function as transcription factors. Many of these genes are homeobox genes which contain a DNA-binding region or homeobox. Animal models have given a valuable insight into human pituitary disease. For example, Pit-1 and Prop1 mutants are known to have deficiencies of growth hormone, prolactin and thyroid-stimulating hormone. Human phenotypes arising as a result of mutations in these genes are similar to the mouse mutants. Mutations in the novel homeobox gene Hesx1/HESX1 are associated with the highly variable phenotype of septo-optic dysplasia in mouse and man. The unravelling of this complex developmental cascade is just commencing.
Dattani
M T
MT
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK. m.dattani@ich.ucl.ac.uk
Robinson
I C
IC
D000818:Animals; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental / Q000502:physiology; D005801:Genes, Homeobox / Q000235:genetics; D006801:Humans; D010903:Pituitary Gland, Anterior / Q000254:growth & development*