Details
- Autor(en) / Beteiligte
- Titel
- BRCA2 Haploinsufficiency in Telomere Maintenance
- Ist Teil von
- Genes, 2021-12, Vol.13 (1), p.83
- Ort / Verlag
- Switzerland: MDPI AG
- Erscheinungsjahr
- 2021
- Link zum Volltext
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- Our previous studies showed an association between monoallelic germline mutations and dysfunctional telomeres in epithelial mammary cell lines and increased risk of breast cancer diagnosis for women with germline mutation and short telomeres in blood cells. In the current study, we analyzed telomere dysfunction in lymphoid cell lines from five mutation carriers and three Fanconi Anemia D1 patients by fluorescence in situ hybridization (FISH). Metaphase chromosomes were harvested from ten lymphoid cell lines of different genotype origin and analyzed for telomere loss (TL), multitelomeric signals (MTS), interstitial telomere signals (ITS) and extra chromosomal telomere signals (ECTS). TL, ITS and ECTS were separately found to be significantly increased gradually between the , and lymphoid cell lines. MTS were found to be significantly increased between the and the heterozygous ( < 0.0001) and the lymphoid cell lines ( < 0.0001) but not between the mutated genotypes. Dysfunctional telomeres were found to be significantly increased in a stepwise manner between the genotypes indicating an effect of BRCA2 haploinsufficiency on telomere maintenance.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2073-4425eISSN: 2073-4425DOI: 10.3390/genes13010083Titel-ID: cdi_doaj_primary_oai_doaj_org_article_09255d95889c44c893f8ef472f7e8a05
- Format
- –
- Schlagworte
- Blood cells, BRCA2, BRCA2 protein, BRCA2 Protein - genetics, Breast cancer, Breast Neoplasms - genetics, Breast Neoplasms - pathology, Cell cycle, chromosomal instability, Chromosomes, DNA damage, Fanconi anemia, Fanconi syndrome, Female, Fluorescence in situ hybridization, Gene expression, Genetic Predisposition to Disease, Genotypes, Haploinsufficiency, Heterozygote, Humans, Lymphoid cell lines, Metaphase, Mutation, Pancreatic cancer, Statistical analysis, Telomerase, telomere, Telomere Shortening, Telomeres, Tumors, Yeast