Premium
The molecular basis for developmental disorders of the pituitary gland in man
Author(s) -
Dattani Mt,
Robinson Ic
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.570503.x
Subject(s) - homeobox , biology , gene , hnf1b , phenotype , prolactin , homeobox a1 , genetics , transcription factor , mutant , endocrinology , hormone
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.