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Results: 4

1.
Figure 2

Figure 2. MLL3 mutation analysis in 8 colorectal cancer cell lines and 72 samples of primary colorectal tumors.. From: Frequent Alteration of MLL3 Frameshift Mutations in Microsatellite Deficient Colorectal Cancer.

(A) MLL3 has a poly-A(A)9 tract within the coding sequence of exon 38. Homozygous frameshift mutations were found in RKO and HCT116, while heterozygous mutations were found in the microsatellite unstable cell lines SW48 and LoVo. Separate somatic mutations were found in SW48 and DLD1 c.10313G>A (p.G3438D), c.13630C>T (p.R4544W). (B) Heterozygous mutations were found in the same poly-A(A)9 tract within the coding sequence of exon 38.

Yoshiyuki Watanabe, et al. PLoS One. 2011;6(8):e23320.
2.
Figure 4

Figure 4. Methylation analysis by bisulfite direct-sequencing.. From: Frequent Alteration of MLL3 Frameshift Mutations in Microsatellite Deficient Colorectal Cancer.

(A–I) Bisulfite direct-sequencing was performed using primers that cover the promoter region of both MLL3 (larger form) and psiTPTE22 using different age of normal colon epitheliums (Age: 24, 31, 38 41, 48, 52, 68 and 82 years old). (J) Dots plotting shows association between DNA methylation in psiTPTE22 and each sample age. Results show that psiTPTE22 methylation was correlated with aging but not MLL3 (r = 0.830, p = 0.015).

Yoshiyuki Watanabe, et al. PLoS One. 2011;6(8):e23320.
3.
Figure 1

Figure 1. Genomic structure of the human MLL3 gene.. From: Frequent Alteration of MLL3 Frameshift Mutations in Microsatellite Deficient Colorectal Cancer.

MLL3 is transcribed from two separate promoters (arrows), and the promoter for the larger transcript contains a CpG island while there is none in the truncated form. The locations of mutations found in this and previous reports are indicated by arrows. Each arrow corresponds to a single case with a mutation, except for the one region with multiple arrows, which corresponds to the polyA tract. MLL3 gene encodes a predicted protein of 4911 amino acids containing two plant homeodomains (PHD), an ATPase alpha/beta signature, a high mobility group, a SET (Suppressor of variegation, Enhancer of zeste, Trithorax) and two FY (phenylalanine tyrosine) rich domains. Each of the mutations in primary samples were shown under the genome structure schema in Figure 1.

Yoshiyuki Watanabe, et al. PLoS One. 2011;6(8):e23320.
4.
Figure 3

Figure 3. DNA methylation analysis using quantitative bisulfite pyrosequencing in primary CRCs and MLL3 relative expression, protein analysis in different CRC cell lines.. From: Frequent Alteration of MLL3 Frameshift Mutations in Microsatellite Deficient Colorectal Cancer.

(A) Example of pyrogram results using CpG island (primer region for pyrosequencing was shown in Figure 1), with polymorphic position C/T highlighted. Sequence reads TC/TGTC/TGGAGGAGGATAAGAG, Pyrogram in left side shows.normal colon and primary CRC (Right side). (B) Result of relative expression in normal colon and colon cancer cell lines analyzed by qPCR for the full length transcript (Probe A: Hs01005501_m1) and a mixture of the full-length and truncated transcripts (Probe B and C: Hs01005520_m1, Hs01005539_m1). Relative expression in probe A was down-regulated in 5 out of 6 cell lines examined. And the two other probes (Probe B and C) demonstrate minimal down-regulation (or even up-regulation) in these cell lines.

Yoshiyuki Watanabe, et al. PLoS One. 2011;6(8):e23320.

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