Professor Jadwiga Jaruzelska is a group leader at the Department of Nucleic Acids. Her research is focused on some aspects of regulation of gene expression in germ cells, in the context of male infertility. Her projects concern in particular the posttranscriptional regulatory mechanisms involving RNA-binding proteins, such as PUMILIO and its cofactors, which bind 3’ untranslated regions and in cooperation with the miRNA machinery determine the fate of specific mRNAs. In particular, mutated RNA-binding proteins from patients suffering from a failure of the reproductive system are used as molecular tools to study the basis of that mechanism and infertility. Another topic of her research is identification of novel genes implicated in human sex determination, in patients suffering from disorders of sex development (DSD). Professor Jaruzelska is the Polish coordinator of an international project addressing this issue. The project is conducted by the University of Geneva, in cooperation with the Institute of Human Genetics of the Polish Academy of Sciences in Poznań, Medical State University of Yerevan, National Academy of Sciences of Ukraine in Kyiv, Poznań University of Medical Sciences, and the Children’s Memorial Health Institute in Warsaw.

Professor Jaruzelska’s research is supported by grants she received from the National Science Center in Poland and the Swiss National Science Foundation.

Keywords: posttranslational gene regulation, RNA-binding proteins, microRNAs, germ cells, human sex determination, disorders of sex development

Lab members:
Kamila Kusz-Zamelczyk, PhD
Marcin Sajek, PhD
Krystyna Kwiatkowska, technician

Damian Janecki, PhD student
Maciej Śmiałek, PhD student
Erkut Ilaslan, PhD student

Current projects:

  • National Science Center Poland 2019/35/B/NZ1/01665 (2020-2024); NANOS1 RNP-interactome: structure and dynamics during specification/early stages of human germ cell development – significance for human reproduction (principal investigator)
  • National Science Center Poland OPUS 2013/09/B/NZ1/01878 (2013-2017); Global PUMILIO regulation of mRNAs and role of MAELSTROM, a nuage component and a cancer testis marker, in human seminoma (principal investigator)
  • Swiss National Science Foundation SCOPES number IZ73ZO_152347/1 (2013-2016); Genetics of human disorders of sexual development (Polish coordinator)

CV Jadwiga Jaruzelska

Publications

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S;

PLoS Genet, 2014, 10 (5): e1004340.

Awards

Awarded:
dr n. med. Marcin Sajek
mgr inż. Maciej Śmiałek
mgr Erkut Ilaslan
dr hab. n. med. Kamila Kusz-Zamelczyk
prof. dr hab. n. biol. Jadwiga Jaruzelska
mgr inż. Damian Janecki
Publication of the year 2019
Given by: Director of the Institute of Human Genetics PAS

Award of the Director of the Institute of Human Genetics of the Polish Academy of Sciences for a review entitled „PUM1 and PUM2 exhibit different modes of regulation for SIAH1 That Involve cooperativity with Nanos paralogues" published in the journal Cellular and Molecular Life Sciences, which awarded the title PUBLICATION OF THE YEAR 2019.

Awarded:
dr hab. n. med. Kamila Kusz-Zamelczyk
mgr Anna Spik
dr n. med. Marcin Sajek
prof. dr hab. n. biol. Jadwiga Jaruzelska
Award from The Polish Society of Genetics
Given by: Polish Society of Genetics

For the best paper published in 2013 in the field of human genetics, describing studies conducted in a Polish laboratory

Awarded: prof. dr hab. n. biol. Jadwiga Jaruzelska
Established Scientist Award (2002)
Given by: European Society of Human Reproduction and Embryology