Genes, 2021-07, Vol.12 (8), p.1173
2021
Details
- Autor(en) / Beteiligte
- Titel
- Xeroderma Pigmentosum: Gene Variants and Splice Variants
- Ist Teil von
- Genes, 2021-07, Vol.12 (8), p.1173
- Ort / Verlag
- Switzerland: MDPI AG
- Erscheinungsjahr
- 2021
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- The nucleotide excision repair (NER) is essential for the repair of ultraviolet (UV)-induced DNA damage, such as cyclobutane pyrimidine dimers (CPDs) and 6,4-pyrimidine-pyrimidone dimers (6,4-PPs). Alterations in genes of the NER can lead to DNA damage repair disorders such as Xeroderma pigmentosum (XP). XP is a rare autosomal recessive genetic disorder associated with UV-sensitivity and early onset of skin cancer. Recently, extensive research has been conducted on the functional relevance of splice variants and their relation to cancer. Here, we focus on the functional relevance of alternative splice variants of XP genes.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2073-4425eISSN: 2073-4425DOI: 10.3390/genes12081173Titel-ID: cdi_doaj_primary_oai_doaj_org_article_6d2866041f934b45a6e15fa521a69cf6
- Format
- –
- Schlagworte
- Alternative splicing, Autosomal recessive inheritance, Cancer therapies, Cyclobutane pyrimidine dimers, Deoxyribonucleic acid, DNA, DNA Damage, DNA polymerase, DNA Repair, gene variants, Genes, Genetic disorders, Genomes, Hereditary diseases, Humans, Mutation, Nucleotide excision repair, Patients, precision medicine, Proteins, Pyrimidine Dimers, Radiation, Review, RNA polymerase, RNA Splicing, Skin cancer, Xeroderma pigmentosum, Xeroderma Pigmentosum - genetics