Biology of Gene Dosage Alterations

All sexually reproducing organisms inherit two copies of the genome – one from the mother and one from the father. Having both a maternal and paternal copy of the genome is extremely important, as mutations that disrupt gene copy number often result in miscarriage or severe genetic disorders. Our main interest lies in discovering the significance of gene copy number in evolution, development and disease and understanding the mechanisms that regulate gene dosage alterations.

Research website

Positions held

  • Since May 2020: Group Leader, Institute of Molecular Biology (IMB), Mainz
  • 2013 - 2020: Postdoctoral Fellow, MPI of Immunobiology & Epigenetics, Freiburg
  • 2012 - 2013: Postdoctoral Fellow, Friedrich Miescher Institute, Basel


  • 2012: PhD in Biochemistry, Friedrich Miescher Institute, Basel
  • 2008: MSc in Molecular Biology, Friedrich Miescher Institute, Basel

Selected publications by Claudia Keller Valsecchi

Valsecchi CIK, Felicia Basilicata M, Georgiev P, Gaub A, Seyfferth J, Kulkarni T, et al. (2021) RNA nucleation by MSL2 induces selective X chromosome compartmentalization. Nature, 589:137-142 Link

Renschler G, Richard G, Keller Valsecchi CI, Toscano S, Arrigoni L, Ramírez F# and Akhtar A# (2019) Hi-C guided assemblies reveal conserved regulatory topologies on X and autosomes despite extensive genome shufflingGenes Dev, 33:1591–1612 (#indicates joint correspondence) Link

Basilicata MF, Bruel AL, Semplicio G, Keller Valsecchi CI, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A and Study DDD (2018) De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nat Genet, 50:1442–1451 Link

Keller Valsecchi CI, Basilicata MF, Semplicio G, Georgiev P, Gutierrez NM and Akhtar A (2018) Facultative dosage compensation of developmental genes on autosomes in Drosophila and mouse embryonic stem cells. Nat Commun, 9:3626 Link

Keller C and Akhtar A (2015) The MSL complex: juggling RNA–protein interactions for dosage compensation and beyondCurr Opin Genet Dev, 31:1–11 Link