[The molecular genetics of multiple endocrine neoplasia type 2A and 2B].
Multiple endocrine neoplasia (MEN) type 2A (MEN 2A) and type 2B (MEN 2B) are dominantly inherited with a predisposition to endocrine tumors. The responsible genes for MEN 2A and 2B have recently been localized to chromosome 10q 11.2 by genetic and physical mapping. The DNA segment encompasses the RET proto-oncogene. This is a receptor tyrosine kinase gene, which is expressed in medullary thyroid carcinoma and pheochromocytoma. Point mutations in the cysteine-rich domain of the RET were demonstrated in patients with MEN 2A. The cosegregation of these mutations and disease in MEN 2A families indicates that they possess a predisposition endocrine organs to develop into tumors. Biological assessment of the mutant forms in cell culture and transgenic mouse lines should provide further insight as to the role of the RET in the tumor development.
Yoshimoto
K
K
Otsuka Department of Clinical and Molecular Nutrition, School of Medicine, University of Tokushima.
D000818:Animals; D002879:Chromosomes, Human, Pair 10; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009377:Multiple Endocrine Neoplasia / Q000209:etiology / Q000235:genetics*; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011505:Protein-Tyrosine Kinases