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dc.contributor.authorHeighway, Jim
dc.contributor.authorWhite, Gavin R M
dc.contributor.authorHartley, Ann L
dc.contributor.authorBirch, Jillian M
dc.contributor.authorSantibanez-Koref, Mauro F
dc.date.accessioned2010-04-12T12:47:34Z
dc.date.available2010-04-12T12:47:34Z
dc.date.issued1994-09
dc.identifier.citationRare variant (Glu to Lys) in the leucine zipper region of CHOP (GADD153). 1994, 9 (9):2737-8 Oncogeneen
dc.identifier.issn0950-9232
dc.identifier.pmid8058339
dc.identifier.urihttp://hdl.handle.net/10541/96302
dc.description.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).
dc.language.isoenen
dc.subjectBreast Cancer
dc.subject.meshAdult
dc.subject.meshBase Sequence
dc.subject.meshBreast Neoplasms
dc.subject.meshCCAAT-Enhancer-Binding Proteins
dc.subject.meshDNA-Binding Proteins
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshLeucine Zippers
dc.subject.meshMolecular Sequence Data
dc.subject.meshNeoplasms
dc.subject.meshNuclear Proteins
dc.subject.meshTranscription Factor CHOP
dc.subject.meshTranscription Factors
dc.titleRare variant (Glu to Lys) in the leucine zipper region of CHOP (GADD153).en
dc.typeArticleen
dc.contributor.departmentCRC Dept of Cancer Genetics, Paterson Institute for Cancer Research, Christie CRC Research Centre, Manchester, UK.en
dc.identifier.journalOncogeneen
html.description.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).


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