Publications by authors named "Dina DeSousa"
Article Synopsis
- Most missense mutations in Rett syndrome affect specific MeCP2 domains involved in DNA binding or transcription regulation, but some mutations, such as C-terminal truncations, occur outside these areas.* -
- Research on four 'non-canonical' mutations in neurons and mice revealed that they can significantly decrease MeCP2 protein levels and disrupt interactions with co-repressors, impacting its functionality.* -
- The discovery that certain C-terminal truncations do not impair MeCP2's function suggests a potential for developing small molecules to stabilize these mutant proteins for therapeutic use.*
CpG islands (CGIs) are dense clusters of CpG sequences that punctuate the CpG-deficient human genome and associate with many gene promoters. As CGIs also differ from bulk chromosomal DNA by their frequent lack of cytosine methylation, we devised a CGI enrichment method based on nonmethylated CpG affinity chromatography. The resulting library was sequenced to define a novel human blood CGI set that includes many that are not detected by current algorithms.
View Article and Find Full Text PDF