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Literature summary for 6.3.1.4 extracted from

  • Akagi, T.; Yin, D.; Kawamata, N.; Bartram, C.R.; Hofmann, W.K.; Song, J.H.; Miller, C.W.; den Boer, M.L.; Koeffler, H.P.
    Functional analysis of a novel DNA polymorphism of a tandem repeated sequence in the asparagine synthetase gene in acute lymphoblastic leukemia cells (2009), Leuk. Res., 33, 991-996.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine the first intron of the gene ASNS contains two 14-bp tandem repeat sequences, i.e. 2R. Approximately 75% of acute lymphoblastic leukemia samples have the 2R sequence in both alleles, 20% and 3% acute lymphoblastic leukemia samples have three and four 14-bp tandem repeats in one allele, respectively. The other allele has 2R. The tandem repeat sequence is not specific to the leukemia cells but represents a novel germline polymorphism. The 14-bp sequence functions as a transcriptional enhancer element as shown by reporter analysis and forms a protein-DNA complex in vitro Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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patients with acute lymphoblastic leukemia
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Expression

Organism Comment Expression
Homo sapiens the first intron of the gene ASNS contains two 14-bp tandem repeat sequences, i.e. 2R. The 14-bp sequence functions as a transcriptional enhancer element as shown by reporter analysis and forms a protein-DNA complex in vitro additional information