Spin repeats and human pathologies

In eukaryotic nuclei, genomic DNA is compacted by histone proteins to form chromatin, which serves as a platform for multilevel regulation of gene expression. Posttranslational modifications (PTMs) of histones and their readout have evolved as an effective means of gene regulation in eukaryotes. Spin repeat proteins are a type of epigenetic “reader” proteins for histone methylations, primarily including H3K4me3, H3K4me3-R8me2a, H4K20me3, and H3K4me3-K9me3/2. Additionally, they have been identified as maternal factors that play a role in oocyte and early embryonic development. Aberrant regulation of Spin repeat proteins can result in a variety of diseases and disorders, including defective embryonic development and tumor formation. This chapter outlines the function of Spin repeat proteins and their dysregulation in pathology.