Rare variant (Glu to Lys) in the leucine zipper region of CHOP (GADD153).
AffiliationCRC Dept of Cancer Genetics, Paterson Institute for Cancer Research, Christie CRC Research Centre, Manchester, UK.
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AbstractCHOP (GADD153) has been shown to be a dominant negative inhibitor of specific transcription factors. Direct sequencing of the gene, amplified from the DNA of a Li-Fraumeni family index case (liposarcoma, breast cancer) revealed a constitutional variant within the coding region. This alteration, though not responsible for the Li-Fraumeni phenotype, resulted in a glutamic acid to lysine switch within the leucine zipper domain, at a residue conserved between CHOP and its potential target molecules and between the human and hamster sequences. The variant created a Taq I restriction fragment length polymorphism (RFLP) facilitating screening. Analysis of 159 breast tumour DNA samples detected two encoding variant alleles (tumour and constitutional DNA).
CitationRare variant (Glu to Lys) in the leucine zipper region of CHOP (GADD153). 1994, 9 (9):2737-8 Oncogene
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