Abstract:
: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.
journal_name
Int J Biol Macromoljournal_title
International journal of biological macromoleculesauthors
Grattarola M,Spaggiari S,Chessa L,Savio C,Nicolini C,Vergani Ldoi
10.1016/s0141-8130(03)00060-6keywords:
subject
Has Abstractpub_date
2003-11-01 00:00:00pages
23-9issue
1-3eissn
0141-8130issn
1879-0003pii
S0141813003000606journal_volume
33pub_type
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journal_title:International journal of biological macromolecules
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journal_title:International journal of biological macromolecules
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journal_title:International journal of biological macromolecules
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journal_title:International journal of biological macromolecules
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journal_title:International journal of biological macromolecules
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journal_title:International journal of biological macromolecules
pub_type: 杂志文章
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