Chapter 17 - Interchromosomal interactions with meaning for disease

Abstract

Interphase architecture is a cytogenomic field which acquired more and more attentions during last years. Technically, this field may be approached by high-throughput chromosome conformation capture methods, such as Hi-C in millions of cells at a time, or may be studied at the single cell level by imaging-based techniques. Intrachromosomal and interchromosomal interactions were uncovered during such studies. In this chapter, we focus on interchromosomal interactions, which can presently be best studied using fluorescence in situ hybridization (FISH). The advantages and possible results are highlighted by two examples: (1) In bone marrow cells of healthy persons it has been shown a bone marrow specific colocalization of chromosomes 8 and 21, and specifically of chromosomal subbands 8q22 and 21q22; the well-known translocation t(8;21)(q22;q22) in acute leukemia could be an unintended by product of a yet not understood necessary interchromosomal interaction. (2) Also, interchromosomal interactions between chromosomes 2q, 12, and 17 in human mesenchymal stem cells could be shown to be necessary to avoid brachydactyly mental retardation syndrome. Overall, interphase architecture still hides a multitude of secrets and near future will definitely bring out exciting new insights in interchromosomal interactions with meaning for human diseases.