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. 2020 Oct 19;10(4):181. doi: 10.3390/jpm10040181

Figure 1.

Figure 1

The reference and observed structures of the TYMS TSER-region. (A) The reference structure of the TSER (NC_000018.10:657’604.657’743) consists of three imperfect repeats. Upstream of the repeats, an inverted repeat is indicated in light and dark green. The region was PCR-amplified using the forward primer 5′-GTG-GCT-CCT-GCG-TTT-CCC-CC-3′ (position 657543; 200bp upstream of the start codon in the NC_000018.10 reference) and the reverse primer 5′-GCT-CCG-AGC-CGG-CCA-CAG-GCA-TG-3′ (including the start codon at the 3′-end indicated in bold) (B) Shown here are five variants of the imperfect tandem repeats together with the length of each repeat that were observed in 1258 sequenced TYMS-promoter region alleles. The presence of the USF1-binding E-box is indicated as a box for each of the five repeats. (C) Shown here are the 13 different TSER-alleles observed in 629 sequenced patients with the corresponding new nomenclature.