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Potential Treatment for Rett Syndrome Through Maintenance of X-inactivation

Maintenance of X-inactivation: A Step Towards a Potential Treatment for Rett Syndrome

Not only do the brown and black splotches of fur on calico cats make them pretty cute, they also reflect a moment early in mammalian development called X-chromosome inactivation. While females have two X-chromosomes, males only have one, so to ensure that the expression of genes on the X-chromosome is …

Acetylation in Alzheimer's disease

Dysregulation of Histone Acetylation in Alzheimer’s Disease

In Alzheimer’s disease (AD) pathology, neuronal histone acetylation is reduced at memory-related genes [1]. Nativio et al specifically researched H4K16ac, a regulator of chromatin compaction, because it plays an important role in cellular aging and senescence [2]. By comparing the genome-wide profiles of H4K16ac in brain tissues from AD patients …


Choosy DNA Methyltransferases Choose CpG-Dense Regions

While changes in DNA methylation have been implicated in a variety of diseases, there is still much to learn about the cellular regulation of DNA methylation patterns across the genome. De novo methyltransferases DNMT3A and B are known to establish DNA methylation. In a recent paper, Baubec et al. investigated …


CTCF Tucks Genes Into Their Lamina Associated Beds

The circadian rhythm allows cells to synchronize across a 24-hour clock. When the clock is disrupted individuals become predisposed to complex diseases like cancer, psychiatric disorders, diabetes, and metabolic syndrome. During the ticking of the clock oscillations in the expression of a number of genes, for instance those involved in …


Of Mice and Men: The Evolution of Cis-Regulatory Elements

DNase Hypersenestive sites (DHSs) are regions within the genome that are susceptible to cleavage by the enzyme DNase I. These regions are susceptible because they lie in uncondensed regions of euchromatin and are readily accessible to the DNase enzyme. In vivo however, these regions are also accessible to regulatory proteins …


Chromatin Remodelers: A new suspect wanted for questioning regarding their role in the development of cancer

Chromatin remodelers are famous for their ability to mobilize nucleosomes and modify DNA structures. However, mutations in chromatin remodelers are being frequently cited for their implications in cancers and are now almost as notorious as p53 (Shain and Pollack, 2013), with perhaps more sinister activities. This includes mutations amongst members …


3D Chromatin Organization, Transcription, and Behavior

The chromosomes of differentiated cells contain heterochromatic and euchromatic compartments. Heterochromatin is highly condensed and associated with repressed transcription, whereas in euchromatin  transcription is generally active. Spatial organization of heterochromatin can vary vastly among different differentiated cell types1. In contrast to differentiated cells, embryonic stem cells contain only sparse heterochromatic …


Gene Transcription: Not Always Dictated by Histone Modifications!

The proper regulation of gene expression is of fundamental importance in the maintenance of normal growth and development.  Misregulation of genes can lead to such outcomes as cancer, diabetes and neurodegenerative disease.  A key step in gene regulation occurs during the transcription of the chromosomal DNA into messenger RNA by …