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. 2019 Sep 27;20(19):4814. doi: 10.3390/ijms20194814

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© 2019 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Hyphomorphic alleles of replicative DNA polymerases (Pols) in Arabidopsis thaliana. On all panels, orange boxes represent exons, and the black line represents introns and regulatory sequences. Below the gene structure, the schematic organization of the corresponding protein is shown. (A) The AtPOL2A gene also known as TIL1/ABO4/ESD7 is annotated to be 18,039 bp, with 48 exons, accounting for an open reading frame of 6818 bp. The til1-4 plants contain two G-to-A mutations: one at position 3927 (counting from the first ATG) in exon 12 and one at position 5005 in intron 14. The former mutation changes a conserved Gly (position 472) into Arg [37]. The abo4-1 mutation changes Gly (position 534) to Arg (G to A in position 4171 counting from the first putative ATG, in the 13th exon). The abo4-2 Salk transfer DNA (T-DNA) insertion line (SALK 0963441) was also found to be viable: in the abo4-2 mutant, the T-DNA is inserted at position 3972 (in the 12th intron), counting from the first putative ATG of the genomic coding sequence [39]. In the mutant, messenger RNAs (mRNAs) lacking exons 12 and 13 (represented in yellow) are produced [50]. The esd7-1 mutation consists of a guanine-to-adenine transition in the 26th exon, which substitutes Gly (G) with Arg (R) at amino-acid position 992, a residue located in the catalytic domain [52]. (B) Structure of the POLA1/ICU2 gene and corresponding protein. The POLA1 gene is 2806 bp long and encodes a 1499-amino-acid (a.a.) protein. The icu2-1 mutant harbors a point mutation in a C/T transition in the 24th exon, at nucleotide position 6762 from the initiation codon, which substitutes Arg (R) with Cys (C) at amino-acid position 1273 [38]. The polα mutation consists of a guanine-to-adenine transition in position 5996 counting from the first putative ATG within the 20th exon, which substitutes Gly (G) with Arg (R) at amino-acid position 1135, a residue in the catalytic domain [41]. (C) Structure of the POLD1 gene and corresponding protein. The POLD1 gene is 7255 bp long and encodes a protein of 1112 amino acids. The gis5 mutation is located within the polymerase domain in the 18th exon causing a C-to-T transition which leads to an Ala 707 Val substitution [40]. (D) Structure of the POLD2 gene and corresponding protein. The gene is 2876 bp long and encodes a 441 amino-acid protein. The pold2-1 mutation changes G to A at position 1170 counting from the first putative ATG, and the mutated nucleotide is located at a splicing site between the fifth intron and the sixth exon [48].

Hyphomorphic alleles of replicative DNA polymerases (Pols) in Arabidopsis thaliana. On all panels, orange boxes represent exons, and the black line represents introns and regulatory sequences. Below the gene structure, the schematic organization of the corresponding protein is shown. (A) The AtPOL2A gene also known as TIL1/ABO4/ESD7 is annotated to be 18,039 bp, with 48 exons, accounting for an open reading frame of 6818 bp. The til1-4 plants contain two G-to-A mutations: one at position 3927 (counting from the first ATG) in exon 12 and one at position 5005 in intron 14. The former mutation changes a conserved Gly (position 472) into Arg [37]. The abo4-1 mutation changes Gly (position 534) to Arg (G to A in position 4171 counting from the first putative ATG, in the 13th exon). The abo4-2 Salk transfer DNA (T-DNA) insertion line (SALK 0963441) was also found to be viable: in the abo4-2 mutant, the T-DNA is inserted at position 3972 (in the 12th intron), counting from the first putative ATG of the genomic coding sequence [39]. In the mutant, messenger RNAs (mRNAs) lacking exons 12 and 13 (represented in yellow) are produced [50]. The esd7-1 mutation consists of a guanine-to-adenine transition in the 26th exon, which substitutes Gly (G) with Arg (R) at amino-acid position 992, a residue located in the catalytic domain [52]. (B) Structure of the POLA1/ICU2 gene and corresponding protein. The POLA1 gene is 2806 bp long and encodes a 1499-amino-acid (a.a.) protein. The icu2-1 mutant harbors a point mutation in a C/T transition in the 24th exon, at nucleotide position 6762 from the initiation codon, which substitutes Arg (R) with Cys (C) at amino-acid position 1273 [38]. The polα mutation consists of a guanine-to-adenine transition in position 5996 counting from the first putative ATG within the 20th exon, which substitutes Gly (G) with Arg (R) at amino-acid position 1135, a residue in the catalytic domain [41]. (C) Structure of the POLD1 gene and corresponding protein. The POLD1 gene is 7255 bp long and encodes a protein of 1112 amino acids. The gis5 mutation is located within the polymerase domain in the 18th exon causing a C-to-T transition which leads to an Ala 707 Val substitution [40]. (D) Structure of the POLD2 gene and corresponding protein. The gene is 2876 bp long and encodes a 441 amino-acid protein. The pold2-1 mutation changes G to A at position 1170 counting from the first putative ATG, and the mutated nucleotide is located at a splicing site between the fifth intron and the sixth exon [48].