Chromosomal fragility, structural rearrangements and mobile element activity may reflect dynamic epigenetic mechanisms of importance in neurobehavioural genetics.

摘要: Advances in human genome analyses have not yet allowed identification of specific genetic mechanisms underlying the expression neurobehavioural disorders. There is an increasing awareness that several genes may contribute to behavioural phenotypes and these appear interact as undetermined ways. It has been suggested problem needs elucidation from epigenetic, gene perspective. Cytogenetic instability manifesting chromosomal fragile sites, translocations, duplications, deletions inversions, when co-occurring with disorders, offer a doorway investigation such chromatin level, regulatory region, epigenetic processes. Due earlier indications non-specificity aberrations, poor phenotype:genotype correlations shift analysing candidate coding regions on high resolution map only utility breakpoints came be seen harbouring possible interest segregating together particular More recent findings highly subsets sites association Tourette Rett syndromes need extended other disorders ascertain whether observed patterns can considered representative 'chromatin endophenotypes' correlating discrete sets symptoms. Environmental/epigenetic factors could affect characteristics arising through DNA strand breakage, mobile element activity retroinsertion, establishing new architectural features control networks very rapidly comparison region evolution rates. Microarray-based techniques for genome-wide mapping vivo protein-DNA interactions increasingly comprehensive views networks. informative include functionally significant structural variation considering