Chromatin Structure and "DNA Sequence View": The Role of Satellite DNA in Ectopic Pairing of the X Polytene Chromosome.

Chromatin 3D structure plays a crucial role in regulation of gene activity. Previous studies have envisioned spatial contact formations between chromatin domains with different epigenetic properties, protein compositions and transcription activity. This leaves specific DNA sequences that affect chromosome interactions. The polytene chromosomes are involved in non-allelic ectopic pairing. The mutant strain , a model for Williams-Beuren syndrome, has an increased frequency of ectopic contacts (FEC) compared to the wild-type strain (). Ectopic pairing can be mediated by some specific DNA sequences. In this study, using our Homology Segment Analysis software, we estimated the correlation between FEC and frequency of short matching DNA fragments (FMF) for all sections of the X chromosome of   and strains. With fragment lengths of 50 nucleotides (nt), showed a specific FEC-FMF correlation for 20% of the sections involved in ectopic contacts. The correlation was unspecific in , which may indicate the alternative epigenetic mechanisms affecting FEC in the mutant strain. Most of the fragments that specifically contributed to FMF were related to 1.688 or 372-bp middle repeats. Thus, middle repetitive DNA may serve as an organizer of ectopic pairing.