![Sample our Physical Sciences journals, sign in here to start your FREE access for 14 days]({"type":"image" , "src" : "/sda/110819/TOC-Subject-Sample-2021-Physical-Sciences.jpg"})
Abstract
The purpose of this review is to highlight the impact of the alternative splicing process on human disease. Epigenetic regulation determines not only what parts of the genome are expressed but also how they are spliced. The recent progress in the field of epigenetics has important implications for the study of rare diseases. The role of epigenetics in rare diseases is a key issue in molecular physiology and medicine because not only rare diseases can benefit from epigenetic research, but can also provide useful principles for other common and complex disorders such as cancer, cardiovascular, type 2 diabetes, obesity, and neurological diseases. Predominantly, epigenetic modifications include DNA methylation, histone modification, and RNA-associated silencing. These modifications in the genome regulate numerous cellular activities. Disruption of epigenetic regulation process can contribute to the etiology of numerous diseases during both prenatal and postnatal life. Here, I discuss current knowledge about this matter including some current epigenetic therapies and future directions in the field by emphasizing on the RNA-based therapy via antisense oligonucleotides to correct splicing defects.
Abbreviations
| AD | = | Alzheimer’s disease |
| ADCA-DN | = | autosomal dominant cerebella ataxia, deafness and narcolepsy |
| AS | = | alternative splicing |
| APP | = | beta-amyloid precursor protein |
| CDKN1C | = | cyclin-dependent kinase inhibitor 1C |
| CdLS | = | Cornelia de Lange syndrome |
| CML | = | chronic myelogenous leukemia |
| CNV | = | copy number variation |
| CSR | = | class switch recombination |
| DMIMs | = | DNA-methylation-induced mutations |
| DMR | = | differentially methylated region |
| DNMT | = | DNA (cytosine-5)-methyltransferase |
| DNMT1 | = | DNA (cytosine-5)-methyltransferase 1 |
| DNMT3 | = | DNA (cytosine-5)-methyltransferase 3 family |
| dsRNA | = | double-stranded RNA |
| ERVs | = | endogenous retroviruses |
| ERV9/LTR12 | = | one of the human endogenous retrovirus families mobilized during primate evolution |
| FDA | = | US Food and Drug Administration |
| FoSTeS | = | fork stalling and template switching |
| H19 | = | imprinting maternally expressed transcript (non-protein coding) |
| HDAC | = | histone deacetylase |
| HDACi | = | histone deacetylase inhibitors |
| HDAC6 | = | histone deacetylase 6 |
| HDAC8 | = | histone deacetylase 8 |
| HGprt | = | hypoxanthine-guanine phosphoribosyltransferase |
| HGPS | = | Hutchinson-Gilford progeria syndrome |
| HIV | = | human immunodeficiency virus |
| hnRNPs | = | heterogeneous nuclear ribonucleoproteins |
| HPRT1 gene | = | hypoxanthine phosphoribosyltransferase 1 gene |
| HSAN1E | = | hereditary sensory autonomic neuropathy type 1E |
| ICF syndrome | = | immunodeficiency, centromere instability and facial anomalies |
| IGF2 | = | insulin-like growth factor 2 |
| INDELS | = | deletion followed by an insertion |
| KCNQ1 | = | potassium voltage-gated channel subfamily Q member 1 |
| KCNQ1OT1 | = | KCVQ1-overlapping transcript 1 |
| LINE-1 | = | long interspersed nuclear element 1 |
| lncRNAs | = | long noncoding RNAs |
| LND | = | Lesch-Nyhan disease |
| LTRs | = | long-terminal repeats |
| MeCP2 | = | methyl CpG binding protein |
| MET gene | = | this gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. Mutations in this gene or amplification and overexpression of this gene are associated with multiple human cancers |
| MIM | = | Mendelian inheritance in man |
| miRNAs | = | microRNAs |
| mRNA | = | messenger RNA |
| NAHR | = | non-allelic homologous recombination |
| ncRNAs | = | noncoding RNAs |
| NHEJ | = | non-homologous end-joining |
| NIH | = | National Institutes of Health |
| NSD1 | = | nuclear receptor binding SET domain protein 1 p300/CBP: p300-CBP coactivator family, composed of p300 (also called EP300 or E1A binding protein p300) and CBP (also known as CREB-binding protein or CREBP) |
| PGCs | = | primordial germ cells |
| piRNAs | = | piwi-interacting RNAs |
| RAG complex | = | products of the recombination-activating genes |
| RISC | = | RNA-induced silencing complex |
| RNase H | = | ribonuclease H |
| RTS | = | Rubinstein-Taybi syndrome |
| RTT | = | Rett syndrome |
| SAHA | = | suberoylanilide hydroxamic acid |
| siRNAs | = | short interfering RNAs |
| snRNAs | = | small nuclear RNAs |
| SNPs | = | single nucleotide polymorphisms |
| snRNP | = | small nuclear ribonucleoprotein |
| SR | = | serine and arginine rich protein |
| SRS | = | serial replication slippage |
| TE | = | transposable element |
| TINATs | = | transcription of non-annotated TSSs |
| TSA | = | trichostatin A |
| TSS | = | transcription start site |
| VPA | = | valproic acid |
| VDJ recombination | = | VDJ recombination is the process by which T cells and B cells randomly assemble different gene segments known as variable (V), diversity (D), and joining (J) genes in order to generate unique receptors (known as antigen receptors) that can collectively recognize many different types of molecules |