Early Embryo Development and Complex Human Disorders
We focus on gene effects and networks in complex human phenotypes. We study early embryonic development and complex disorders, many with an inflammatory component, such as pre-eclampsia, psoriasis, and rare immune system-related diseases, as well as developmental dyslexia. In addition, our group has an interest in comparative studies between human and other species, such as the dog. There is a strong strategic synergy between the projects, even though they represent different physiological systems.
Our research group was established in 1994. We use modern genomics tools, including high-throughput DNA and RNA sequencing. We work in tight collaboration with clinical specialists as well as leading experts on special methods, such as proteomics, single-cell transcriptomics, and brain imaging, and are involved in a number of international consortia.
Our recent major breakthrough provided a detailed transcriptome of early embryos, and now our focus is to characterise the regulatory network of early embryonic development. Our recent work has highlighted the functions of DUX4, a gene that launches the activation of the embryo’s own genome. We have recently found that a central mechanism in pre-eclampsia involves an autoimmune-like process when the protection of placental cells by the expression of a gene called HLA-G is low and the mother’s immune system can more strongly attack the placenta. In psoriasis, we showed that innate immunity related signaling pathways are active also in non-immune cells of psoriatic skin. We have identified several susceptibility genes, e.g., for dyslexia, providing opportunities to study the pathogenetic mechanisms. We are currently studying the relationship between dyslexia susceptibility genes and brain activity. Our studies on immune deficiency disorders are focused on identifying genes behind the new and rare types of diseases. We have already identified several new genes with work ongoing on yet new genes.
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Senior Scientists
Outi Elomaa, PhD, Docent, Administrative Group Leader
Sini Ezer, PhD
Shintaro Katayama, PhD
Mari H Tervaniemi, PhD
Eeva-Mari Jouhilahti, PhD
Satu Wedenoja, MD, PhD, Associated researcher
Jere Weltner, PhD
Undergraduate Students
Lisa Gawriyski, MSc
Elina Tuovinen, MD
Gamze Yazgeldi, MSc
Staff
Eira Leinonen, Research Nurse
Auli Saarinen, Laboratory Assistant
Mari H Tervaniemi, PhD
Wedenoja S*, Yoshihara M, Teder H, Sariola H, Gissler M, Katayama S, Wedenoja J, Häkkinen IM, Ezer S, Linder N, Lundin J, Skoog T, Sahlin E, Iwarsson E, Pettersson K, Kajantie E, Mokkonen M, Heinonen S, Laivuori H, Krjutškov K, Kere J*. Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia. EBiomedicine 59:102872, 2020
https://doi.org/10.1016/j.ebiom.2020.102872
Wagner M, Yoshihara M, Douagi I, Damdimopoulos A, Panula S, Petropoulos S, Lu H, Pettersson K, Palm K, Katayama S, Hovatta O, Kere J, Lanner F, Damdimopoulou P. Single cell map of the human ovarian cortex. Nature Commun 11:1147, 2020
https://pubmed.ncbi.nlm.nih.gov/32123174/
Hirabayashi S, Bhagat S, Matsuki Y, Takegami Y, Uehata T, Kanemaru A, Itoh M, Shirakawa K, Takaori-Kondo A, Takeuchi O, Carninci P, Katayama S, Hayashizaki Y, Kere J, Kawaji H, Murakawa Y. NET-CAGE characterizes the dynamics and topology of human transcribed cis-regulatory elements. Nature Genet 51:1369-1379, 2019
https://pubmed.ncbi.nlm.nih.gov/31477927/
Katayama S, Ranga V, Jouhilahti E-M, Airenne TT, Johnson MS, Mukherjee K, Bürglin TR*, Kere J*. Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis. Sci Rep 8:17421, 2018
https://pubmed.ncbi.nlm.nih.gov/30479355/
Weltner J, Balboa D, Katayama S, Bespalov M, Krjutškov K, Jouhilahti E-M, Trokovic R, Kere J*, Otonkoski T*. Human pluripotent reprogramming with CRISPR dCas9 activators. Nature Commun 9:2643, 2018
https://pubmed.ncbi.nlm.nih.gov/29980666/
Töhönen V, Katayama S, Vesterlund L, Jouhilahti E-M, Sheikhi M, Madissoon E, Filippini-Cattaneo G, Jaconi M, Johnsson A, Bürglin TR, Linnarsson S, Hovatta O, Kere J. Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development. Nature Commun 6:8207, 2015
Folkhälsan Research Foundation
Jane and Aatos Erkko Foundation
Päivikki and Sakari Sohlberg Foundation
Sigrid Juselius Stiftelse
Dyslexia consortium “DYSGEBRA”: Heikki Lyytinen, PhD, Professor, and Riitta Salmelin, DSc, Professor
Hannele Laivuori, MD, PhD, and the FINNPEC Consortium
Hannes Lohi, PhD, Professor, and the DoGA Consortium
Juha Grönholm MD, PhD
The FANTOM Consortium, RIKEN Yokohama Institute
Timo Otonkoski, MD, PhD, Professor
Mikko Seppänen, MD, PhD
Juha Tapanainen, MD, PhD, Professor
