DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome
| Autor: | Vukic, M., Daxinger, L., Blewitt, M. |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Primary Immunodeficiency Diseases
DNMT3B HELLS Biology Biochemistry Molecular Bases of Health & Disease Epigenesis Genetic 03 medical and health sciences CDCA7 0302 clinical medicine ZBTB24 medicine Gene silencing Humans Epigenetics DNA (Cytosine-5-)-Methyltransferases Molecular Biology Gene DNA Chromosomes & Chromosomal Structure Review Articles 030304 developmental biology Regulation of gene expression Genetics 0303 health sciences DNA methylation Gene Expression & Regulation DNA Helicases Nuclear Proteins DNA medicine.disease Repressor Proteins Immunodeficiency–centromeric instability–facial anomalies syndrome Phenotype ICF syndrome Tandem Repeat Sequences Face Mutation 030217 neurology & neurosurgery |
| Zdroj: | Essays in Biochemistry, 63(6), 773-783 Essays in Biochemistry |
| Popis: | DNA methylation is an epigenetic modification essential for normal mammalian development. Initially associated with gene silencing, more diverse roles for DNA methylation in the regulation of gene expression patterns are increasingly being recognized. Some of these insights come from studying the function of genes that are mutated in human diseases characterized by abnormal DNA methylation landscapes. The first disorder to be associated with congenital defects in DNA methylation was Immunodeficiency, Centromeric instability, Facial anomalies syndrome (ICF). The hallmark of this syndrome is hypomethylation of pericentromeric satellite repeats, with mutations in four genes: DNMT3B, ZBTB24, CDCA7 and HELLS, being linked to the disease. Here, we discuss recent progress in understanding the molecular interactions between these genes and consider current evidence for how aberrant DNA methylation may contribute to the abnormal phenotype present in ICF syndrome patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|