Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.

ABSTRACT:

Background

Segmental duplications (SDs) are not evenly distributed along chromosomes. The reasons for this biased susceptibility to SD insertion are poorly understood. Accumulation of SDs is associated with increased genomic instability, which can lead to structural variants and genomic disorders such as the Williams-Beuren syndrome. Despite these adverse effects, SDs have become fixed in the human genome. Focusing on chromosome 7, which is particularly rich in interstitial SDs, we have investigated the distribution of SDs in the context of evolution and the three dimensional organisation of the chromosome in order to gain insights into the mutual relationship of SDs and chromatin topology.

Results

Intrachromosomal SDs preferentially accumulate in those segments of chromosom

SUBMITTER: Ebert G 

PROVIDER: S-EPMC4092221 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature