MADR2 maps to 18q21 and encodes a TGF beta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma
Article Abstract:
The MAD-related (MADR) family of proteins play a significant role in the signaling pathways of serine/threonine kinase receptors for the transforming growth factor (TGF) beta superfamily. TGF beta, not bone morphogenetic proteins, was found to specifically regulate MADR2. The MADR2 gene resides on chromosome 18q21 near the MADR protein DPC4. Four missence mutations in colorectal carcinomas were identified via a mutational analysis of MADR2 in sporadic tumors. Two showed a loss of heterozygosity. Biochemical and functional analyses of three mutations showed the mutations to be inactivating. Results suggest that MADR2 is a tumor suppressor and that the mutations acquired in colorectal carcinomas may function to disrupt TGF beta signaling.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1996
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MADR2 is a substrate of the TGFbeta receptor and its phosphorylation is required for nuclear accumulation and signaling
Article Abstract:
The Mothers against dpp-related (MADR) proteins of Drosophila act as a cellular component of tumor growth factor beta (TGFbeta) signaling pathways after undergoing TGFbeta-mediated phosphorylation. TGFbeta phosphorylates the C-terminal serines of MADR proteins during signal transduction. Furthermore, phosphorylated MADR proteins are necessary for nuclear accumulation which is characterized by the redistribution of MADR2 proteins in the nucleus during TGFbeta-mediated cellular signal transduction.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1996
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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
Article Abstract:
A novel mode of mutation in photoreceptor-specific homeodomain transcription factor gene (CRX) was found to have caused an autosomal dominant form of cone-rod dystrophy. The locus of mutation which is at chromosome 19q13 was the site of the replacement of glutamic acid by alanine. These mutations were more likely to be the result of the paucity of function determined by the alleles.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
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