The role of homeobox genes in disorders of pituitary development

M.T. Dattani, D. McNay

Research output: Contribution to journalArticlepeer-review


The pituitary gland consists of two lobes, the anterior and posterior lobes. The development of the anterior pituitary gland is dependent upon a cascade of developmental genes that function as signalling molecules or as transcription factors and regulate the expression of downstream target genes. Many of these genes are homeobox genes which contain a homeobox encoding a DNA binding homeodomain. Animal models have given a valuable insight into the role of these homeobos genes in human pituitary disease. Pit1 and Prop1 mutant mice are known to have deficiencies of growth hormone, prolactin and TSH. Human phenotypes arising as a result of mutations in these genes are similar to the mouse mutants, with the addition of LH/FSH and variable ACTH deficiency in the case of PROP1. The homeobox gene LHX3 has been shown to have multiple roles in pituitary development and human mutations have been described resulting in multiple pituitary hormone deficiencies associated with a short neck and an abnormal cervical spine. Mutations of the homeobox gene Hesx1/HESX1 in mouse and man are associated with the highly variable phenotype of septo-optic dysplasia. It is clear that the developmental cascade of homeobox genes is extremely complicated, and that the unravelling process is just commencing.
Original languageEnglish
Pages (from-to)43-47
Number of pages5
JournalCME Bulletin Endocrinology and Diabetes
Issue number3
Publication statusPublished - 1 Jan 2003


  • genes
  • homeobox
  • hypopituitarism
  • Pit1
  • Prop1


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