Rare variant (Glu to Lys) in the leucine zipper region of CHOP (GADD153).
Heighway, Jim White, Gavin R M Hartley, Ann L Birch, Jillian M Santibanez-Koref, Mauro F
Heighway, Jim
White, Gavin R M
Hartley, Ann L
Birch, Jillian M
Santibanez-Koref, Mauro F
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Abstract
CHOP (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).
Description
Date
1994-09
Publisher
Keywords
Breast Cancer
Type
Article
Citation
Rare variant (Glu to Lys) in the leucine zipper region of CHOP (GADD153). 1994, 9 (9):2737-8 Oncogene