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P3–153: Human gene expression profiling associated with P301L tau mutation
Author(s) -
Benussi Luisa,
Barbiero Laura,
Sina Elena,
Ghidoni Roberta,
Binetti Giuliano
Publication year - 2006
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2006.05.1421
Subject(s) - biology , gene , genetics , microbiology and biotechnology , gene expression , gene expression profiling , tau protein , alzheimer's disease , medicine , disease , pathology
inversion, most likely due to a non-allelic homologous recombination event involving LCR A and LCR B. Objective(s): The aim of this study was to prove this inversion using a direct detection method. Methods: Due to the intermediate size of the inversion, classical fluorescence in situ hybridization (FISH) methods including metaphase, interphase and fiber-FISH failed to demonstrate the inversion. Therefore, we performed FISH experiments with mechanically stretched metaphase chromosomes reaching a unique intermediate resolution. Results: In contrast to previous studies suggesting the H1-H2 inversion polymorphism using indirect methods, this study unambiguously showed for the first time the large H1-H2 inversion due to the optimal resolution of this FISH technique. Conclusions: Since we have established now the instability of the MAPT LCRs and several inversion polymorphisms have been identified in association with genomic disorders, we hypothesize that these LCRs could give rise to other more complex genomic rearrangements of the MAPT region, possibly involved in the molecular pathogenesis of FTDU-17 and other related tauopathies. Current research aims at the identification of such reorganizations.