Parathyroid development and the role of tubulin chaperone E.
The development of the parathyroid glands involves complex embryonic processes of cell-specific differentiation and migration of the glands from their sites of origin in the pharynx and pharyngeal pouches to their final positions along the ventral midline of the pharyngeal and upper thoracic region. The recognition of several distinct genetic forms of isolated and syndromic hypoparathyroidism led us to review the recent findings on the molecular mechanisms of the development of the parathyroid glands. Although far from being understood, a special emphasis was given to the possible role of tubulin chaperone E (TBCE), which was implicated in the pathogenesis of the hypopathyroidism, retardation and dysmorphism (HRD) syndrome. The novel finding that TBCE plays a critical role in the formation of the parathyroid opens a novel domain of research, not anticipated previously, into the complex process of parathyroid development.
Parvari
Ruti
R
Department of Developmental Genetics and Virology, Faculty of Health Sciences and National Institute for Biotechnology, Ben Gurion University of the Negev, Beer Sheva, Israel. ruthi@bgu.ac.il
Diaz
George A
GA
Hershkovitz
Eli
E
D005786:Gene Expression Regulation / Q000502:physiology*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics / Q000502:physiology*; D010280:Parathyroid Glands / Q000254:growth & development / Q000378:metabolism* / Q000503:physiopathology; D015398:Signal Transduction / Q000502:physiology; D014157:Transcription Factors / Q000502:physiology; D014404:Tubulin / Q000378:metabolism*
D018832:Molecular Chaperones; C469270:TBCE protein, human; D014157:Transcription Factors; D014404:Tubulin