The RET receptor: function in development and dysfunction in congenital malformation

Germline mutations in the RET proto-oncogene are responsible for two unrelated neural crest disorders: Hirschsprung disease, a congenital absence of the enteric nervous system in the hindgut, and multiple endocrine neoplasia type 2, a dominantly inherited cancer syndrome. Moreover, somatic rearrange...

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Bibliographic Details
Published in:Trends in Genetics 2001-10, Vol.17 (10), p.580-589
Main Authors: Manié, Serge, Santoro, Massimo, Fusco, Alfredo, Billaud, Marc
Format: Article
Language:English
Subjects:
Animals
Apoptosis
Biological and medical sciences
Cell differentiation, maturation, development, hematopoiesis
Cell physiology
Drosophila Proteins
Enteric Nervous System - abnormalities
Fundamental and applied biological sciences. Psychology
GDNF
GFL signalling
GFR alpha
Glial Cell Line-Derived Neurotrophic Factor
Glial Cell Line-Derived Neurotrophic Factor Receptors
Hirschsprung disease
Hirschsprung Disease - etiology
Hirschsprung Disease - genetics
Hirschsprung Disease - physiopathology
Hirschsprung's disease
Humans
kidney development
Ligands
Membrane Microdomains - physiology
Mice
Molecular and cellular biology
Mutation
Nerve Growth Factors
Nerve Tissue Proteins - physiology
neural crest disorder
neural development
oncogene
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins - physiology
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases - genetics
Receptor Protein-Tyrosine Kinases - physiology
RET gene
Ret receptor
RET receptors
Signal Transduction
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Summary:Germline mutations in the RET proto-oncogene are responsible for two unrelated neural crest disorders: Hirschsprung disease, a congenital absence of the enteric nervous system in the hindgut, and multiple endocrine neoplasia type 2, a dominantly inherited cancer syndrome. Moreover, somatic rearrangements of RET are causally involved in the genesis of papillary thyroid carcinoma. The receptor tyrosine kinase encoded by the RET gene acts as the subunit of a multimolecular complex that binds four distinct ligands and activates a signalling network crucial for neural and kidney development. Over the past few years, a clearer picture of the mode of RET activation and of its multifaceted role during development has started to emerge. These findings, which provide new clues to the molecular mechanisms underlying RET signalling dysfunction in Hirschsprung disease, are summarized in this review.
ISSN:0168-9525
DOI:10.1016/S0168-9525(01)02420-9