Various AGC repeat numbers in the coding region of the human transcription factor gene E2F-4.
The E2F family of transcription factors regulates the expression of genes required for DNA synthesis and cell cycle control. The AGC triplet repeat in the coding region of the E2F-4 gene, a member of the family, has been reported to be mutated in colorectal cancers with a microsatellite instability (MSI) phenotype. We found a wider range variation of the repeat number in DNAs from tumors, the corresponding normal mucosa, and healthy individuals. A total of 5 repeat variants, ranging from 8 to 17 AGC repeats, was detected in 6 (9.7%) of the 62 healthy individuals and 8 (8.9%) of the 90 normal DNAs of the patients. The wild-type 13 repeat was present in all of these individuals. The variation of the AGC repeat number may be a polymorphism. Further, loss of heterozygosity (LOH) at the E2F-4 locus in the tumor tissues of 2 (25%) of the 8 informative cases was detected. The variation may be a useful marker for detection of LOH in primary tumors.
Zhong
X
X
Hemmi
H
H
Koike
J
J
Tsujita
K
K
Shimatake
H
H
D015179:Colorectal Neoplasms / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D050704:E2F4 Transcription Factor; D006801:Humans; D019656:Loss of Heterozygosity; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D014157:Transcription Factors / Q000235:genetics*; D018911:Trinucleotide Repeats
D004268:DNA-Binding Proteins; D050704:E2F4 Transcription Factor; D014157:Transcription Factors