What does it mean when a gene is hypermethylated?
In many disease processes, such as cancer, gene promoter CpG islands acquire abnormal hypermethylation, which results in transcriptional silencing that can be inherited by daughter cells following cell division. Alterations of DNA methylation have been recognized as an important component of cancer development.
What does methylation of oncogenes cause?
Methylation within the promoter regions of tumor suppressor genes causes their silencing, and methylation within the gene itself can induce mutational events. These mechanisms may play a fundamental role in precipitating the development of a large and diverse number of human cancers.
When does de novo methylation happen?
De novo methylation of DMRs/ICRs and most of the genome occurs in the entire population of male germ cells around the time of birth; these methylation patterns exist for the reproductive life of the organism and must be propagated by maintenance methylation in spermatogonia through many mitotic divisions prior to entry …
What is de novo disease?
A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo variant, new mutation, and new variant.
How does methylation occur?
DNA methylation is an epigenetic mechanism that occurs by the addition of a methyl (CH3) group to DNA, thereby often modifying the function of the genes and affecting gene expression.
How does methylation PCR work?
Methylation-specific PCR (MSP) is a method for analysis of DNA methylation patterns in CpG islands. For performing MSP, DNA is modified by and PCR performed with two primer pairs, which are detectable methylated and unmethylated DNA, respectively.