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

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 Macromol

authors

Grattarola M,Spaggiari S,Chessa L,Savio C,Nicolini C,Vergani L

doi

10.1016/s0141-8130(03)00060-6

keywords:

subject

Has Abstract

pub_date

2003-11-01 00:00:00

pages

23-9

issue

1-3

eissn

0141-8130

issn

1879-0003

pii

S0141813003000606

journal_volume

33

pub_type

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