Item request has been placed!
×
Item request cannot be made.
×
Processing Request
[Mosaic forms of ataxia-telangiectasia].
Item request has been placed!
×
Item request cannot be made.
×
Processing Request
- Additional Information
- Source:
Publisher: Rossiiskaia Akademiia Nauk Country of Publication: Russia (Federation) NLM ID: 0417363 Publication Model: Print Cited Medium: Print ISSN: 0041-3771 (Print) Linking ISSN: 00413771 NLM ISO Abbreviation: Tsitologiia Subsets: MEDLINE
- Publication Information:
Publication: Moskva : Rossiiskaia Akademiia Nauk
Original Publication: Moskva, Akademiia nauk SSSR.
- Subject Terms:
- Abstract:
Ataxia-telangiectasia (AT) is a severe hereditary autosomal recessive neurodegenerative disease associated with accelerated aging and caused by mutation in both alleles of atm gene. This gene encodes a key protein of cell response to DNA damage--an ATM protein kinase. Normally, upon formation of DNA double strand breaks ATM is autophosphorylated and its active form phospho-ATM (P-ATM) appears. Here we describe a mosaic form of AT in which cells of the same patient with normal atm gene demonstrated the accumulation of P-ATM in response to DNA double-strand breaks-inducing factors whereas in cells bearing a mutant form of atm P-ATM was not detected. The epigenetic markers such as histone deacetylases SIRT1 and SIRT6, and trimethylated forms of histone H3 - H3K9me3 and H3K27me3--were studied in the nuclei of primary fibroblasts derived from patients with different forms of AT and the increase of SIRT6 level was revealed.
- Accession Number:
0 (Histones)
EC 2.7.11.1 (ATM protein, human)
EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins)
EC 3.5.1.- (SIRT1 protein, human)
EC 3.5.1.- (SIRT6 protein, human)
EC 3.5.1.- (Sirtuin 1)
EC 3.5.1.- (Sirtuins)
- Publication Date:
Date Created: 20150221 Date Completed: 20150317 Latest Revision: 20150220
- Publication Date:
20231215
- Accession Number:
25697008
No Comments.