A structural characterization of in situ chromatin on cell lines isolated from patients affected by ataxia telangiectasia

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by numerous clinical and cellular features. The pleiotropic nature of the AT syndrome attests to the multiple roles of ATM, the protein codified by the gene altered in AT patients. We investigated if different mutations of A...

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Bibliographic Details
Published in:International journal of biological macromolecules 2003-11, Vol.33 (1), p.23-29
Main Authors: Grattarola, Myriam, Spaggiari, Sara, Chessa, Luciana, Savio, Camilla, Nicolini, Claudio, Vergani, Laura
Format: Article
Language:English
Subjects:
Ataxia telangiectasia
Ataxia Telangiectasia - genetics
Ataxia Telangiectasia - pathology
Ataxia Telangiectasia Mutated Proteins
Calorimetry, Differential Scanning
Cell Cycle Proteins
Cell Line
Cell Nucleus - genetics
Cell Nucleus - ultrastructure
Chromatin - chemistry
Chromatin - ultrastructure
Chromatin Assembly and Disassembly
Chromatin structure
Differential scanning calorimetry
DNA-Binding Proteins
High-resolution fluorescent microscopy
Humans
Microscopy, Fluorescence
Nuclear architecture
Protein-Serine-Threonine Kinases - genetics
Reference Values
Tumor Suppressor Proteins
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Summary:Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by numerous clinical and cellular features. The pleiotropic nature of the AT syndrome attests to the multiple roles of ATM, the protein codified by the gene altered in AT patients. We investigated if different mutations of ATM could reflect on different alterations of nuclear architecture and chromatin organization. We selected three lymphoblastoid cell lines isolated from AT patients affected by different mutations of ATM gene and one healthy control. We characterized the in situ chromatin structure of each cell line by a biophysical approach: (1) we evaluated the rearrangements of the chromatin domains at the level of single cell by quantitative fluorescence microscopy; (2) we analysed the changes of the average chromatin condensation by differential scanning calorimetry. The results show that the three different ATM mutations produce significant modifications of both nuclear architecture and chromatin condensation.
ISSN:0141-8130
1879-0003
DOI:10.1016/S0141-8130(03)00060-6