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.
MetadataShow full item record
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
- Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma.
- Authors: Crozat A, Aman P, Mandahl N, Ron D
- Issue date: 1993 Jun 17
- Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma.
- Authors: Rabbitts TH, Forster A, Larson R, Nathan P
- Issue date: 1993 Jun
- CHOP/GADD153 and methionyl-tRNA synthetase (MetRS) genes overlap in a conserved region that controls mRNA stability.
- Authors: Ubeda M, Schmitt-Ney M, Ferrer J, Habener JF
- Issue date: 1999 Aug 19
- A novel FUS/CHOP chimera in myxoid liposarcoma.
- Authors: Panagopoulos I, Mertens F, Isaksson M, Mandahl N
- Issue date: 2000 Dec 29
- GADD153/CHOP, a DNA damage-inducible protein, reduced CAAT/enhancer binding protein activities and increased apoptosis in 32D c13 myeloid cells.
- Authors: Friedman AD
- Issue date: 1996 Jul 15