FIGURE 8.

Human MTHFD2L gene structure and alternative transcript splicing. A, gene structure, alternative splicing, and potential protein products. The entire gene spans 145 kbp on chromosome 4 at 4q13.3. Exons are shown as numbered black bars; introns are shown as thin horizontal lines. Exons are not drawn to scale. Three alternative splicing patterns due to skipping of exon 2 and/or 8 are observed in human brain and placenta (see under “Results” for details). B, RT-PCR analysis of exon 2 splicing using primers binding in exons 1 and 3 (hNCRTfor1 and hNCrace2, respectively; Table 1). The expected sizes of the two products are 335 bp (including exon 2) and 301 bp (excluding exon 2). −RT, minus reverse transcriptase control. C, RT-PCR analysis of exon 8 splicing using primers binding in exons 1 and 9 (hJunc1to3f2 and hNCRTend1, respectively; Table 1). The expected sizes of the two products are 980 bp (including exon 8) and 852 bp (excluding exon 8). DNA size markers are indicated.