inherited silencing of MLH1 linked to single nucleotide variant within 5'UTR.txt
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Takeaway and broad scope
- c.-27C > A variant shows that promoter varients within MLH1 and other genes may confer CANCER SUSCEPTIBILITY through their association with EPIGENETIC modifications
- Genotypes and epigenotypes have INTERACTION in cancer-associated genes
silencing of MLH1 in Cancer-affected family
LINKED to Single Nucleotide Variant within the 5'UTR
- reported in individuals with personal history of cancer but NO FAMILIAL history
- non-Mendelian inheritance observe
Goal of study
- Investigate MECHANISTIC basis of MLH1 epimutations
- Define pattern of inheritance assoc. with these mutations
c.-27C > A variant
- This nucleotide variant induces the MLH1 mutation.
- Located w/in 5'UTR
- This may result in LOSS of binding of nuclear factor necessary for transcription and/or protection from chromatin modification.
3 haplotypes of MLH1 variants
- Type I: haplotype methylated and transcriptionally silent
- Type II: haplotype is UNmethylated and ACCESSIBLE to transcriptional activators
- Type III: UNmethylated BUT transcriptionally REPRESSED by putative intermediary nuclear factor
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