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Daily Word Search. Mah Jong Quest. Subscribe Top Menu Current Issue. Epigenetic marks participate in highlighting the genetic material that is being used in the particular cell type. The term epigenetics is used to describe any alteration of the DNA, which does not affect the DNA sequence itself, but which is maintained through cell division.
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Here, we focus on DNA methylation and histone modifications. DNA methylation and DNA hydroxymethylation, a more recently discovered modification are changes that involve the addition of a methyl group to cytosines in the DNA. The impact of DNA methylation differs based on context, but in some instances it can affect the expression of a parental allele for instance in genomic imprinting, see below. DNA methylation is the epigenetic modification that has been most studied, and there are currently laboratory tests available to study this modification DNA methylation analysis of critical regions of genomic imprinting.
Genomic imprinting refers to the differential expression of alleles, depending on the parent of origin.
It is quite amazing that for imprinted genes, the two copies one from mom and one from dad remember from which parent they came!!!! When this pattern is disrupted, imprinting disorders result. The figure below see Figure 2 shows a pair of chromosomes, which contain an imprinted region, the red being the copy that came from the mother and the blue the copy that came from the father. In this example, the gene is only expressed from the maternal copy. There is increased methylation of the critical region the differentially methylated region or DMR on the paternal allele, resulting in decreased or loss of expression of that copy.
Imprinting disorders can occur when an individual has a deletion of one of the copies, when an individual has received two copies from one parent uniparental disomy , and when the two alleles behave epigenetically as if they came from the same parent because of a de novo epimutation or the incomplete erasure of the mark in a previous generation. In addition, even monozygotic twins genetically identical can sometimes be discordant for disease states.
Occasionally, this discordance can be caused by different epigenetic modifications in the twins an epimutation and is uncannily common for some of our conditions such as Beckwith Wiedemann syndrome. Epigenetic conditions are different than other conditions for several reasons: 1 Epigenetic marks are sensitive to the environment. For instance, children with imprinting disorders are more likely to have been conceived through artificial reproductive technology than other children. Recently, a number of disorders have been found to result from abnormalities in genes encoding components of the histone machinery.
These disorders, although genetic, will most likely have epigenetic consequences.
However, unlike with imprinting disorders, which tend to involve a specific gene or localized genomic region, mutations in critical components of the epigenetic machinery will be expected to affect the epigenetic marks of large numbers of genes throughout the genome and thereby their expression see Figure 4 below. By affecting the balance between highlighters and erasers we hope to be able to develop a therapy for the intellectual disability seen in this disease, even if patients are diagnosed after the first few years of life when most of the neurons have formed.
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