P7: 3D genome characterisation of human spermatogenesis

Juan M. Vaquerizas, Max Planck Institute for Molecular Biomedicine (Homepage)

Project summary

The three-dimensional organisation of chromatin plays a crucial role during gametogenesis and early embryonic development, since it is intimately intertwined with the dramatic changes in epigenetic programmes in these cells as well as meiotic recombination.

Within this Clinical Research Unit, we will use state-of-the art genomic techniques to dissect at a single-cell resolution level the dynamics of the three-dimensional organisation of chromatin during human spermatogenesis, the gene regulatory networks that drive the differentiation process, and how these are affected in patients with balanced translocations.

The characterisation of the three-dimensional chromatin organisation and the associated gene regulatory networks during human spermatogenesis will provide the basis for understanding how the organisation of the genome and processes such as recombination are connected. In addition, our results will constitute an invaluable regulatory atlas that will inform clinical decisions regarding the role of mutations and structural variation in male infertility.

Representative three-dimensional chromatin conformation maps (chromosome 4) for blood sample (left panel) and sperm (right panel) from a control donor with normal spermatogenesis. Scale: normalised counts.