Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome. Journal Article uri icon



  • Chromosomes occupy distinct interphase territories in the three-dimensional nucleus. However, how these chromosome territories are arranged relative to one another is poorly understood. Here, we investigated the inter-chromosomal interactions between chromosomes 2q, 12, and 17 in human mesenchymal stem cells (MSCs) and MSC-derived cell types by DNA-FISH We compared our findings in normal karyotypes with a three-generation family harboring a 2q37-deletion syndrome, featuring a heterozygous partial deletion of histone deacetylase 4 (HDAC4) on chr2q37. In normal karyotypes, we detected stable, recurring arrangements and interactions between the three chromosomal territories with a tissue-specific interaction bias at certain loci. These inter-chromosomal interactions were confirmed by Hi-C. Interestingly, the disease-related HDAC4 deletion resulted in displaced inter-chromosomal arrangements and altered interactions between the deletion-affected chromosome 2 and chromosome 12 and/or 17 in 2q37-deletion syndrome patients. Our findings provide evidence for a direct link between a structural chromosomal aberration and altered interphase architecture that results in a nuclear configuration, supporting a possible molecular pathogenesis.

publication date

  • August 1, 2018

has subject area

has restriction

  • green

Date in CU Experts

  • June 22, 2018 1:07 AM

Full Author List

  • Maass PG; Weise A; Rittscher K; Lichtenwald J; Barutcu AR; Liehr T; Aydin A; Wefeld-Neuenfeld Y; Pölsler L; Tinschert S

author count

  • 13

Other Profiles

Electronic International Standard Serial Number (EISSN)

  • 1460-2075

Additional Document Info


  • 37


  • 15