Group Kere

Genetics of Complex Phenotypes

We focus on gene effects and networks in complex human phenotypes. Our major projects are dyslexia, psoriasis, early embryonic development, and rare immune deficiency diseases. There is a strong strategic synergy between the projects, even though they represent different physiological systems.

Our research group was established 1994. We work in tight collaboration with clinical specialists as well as leading experts on special methods, such as single-cell transcriptomics and brain imaging, and are involved in international consortia. We use modern genomics tools such as high-throughput DNA and RNA sequencing for identifying gene variants and gene expression profiling, respectively, as well as epigenetics research techniques. In addition, our group has an interest in comparative studies between human and other species, such as dog.

We have identified several susceptibility genes e.g. for dyslexia, providing opportunities to study the pathogenetic mechanisms. Our major breakthrough provided a detailed transcriptome of early embryos in 1995. and now our focus is to identify the most critical factors regulating the early embryonic development. We have recently characterized two genes LEUTX and DPRX that are key factors in embryonic development. In psoriasis, we showed that innate immunity related signaling pathways are active also in non-immune cells of psoriatic skin. In dyslexia we are studying the relationship between a genetic background 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

Graduate Student

Mari Muurinen, MD

Undergraduate Students

Inka Häkkinen, Med stud

Kristiina Silventoinen, BM

Elina Tuovinen, BM


Eira Leinonen, Research Nurse

Auli Saarinen, Laboratory Assistant

Acevedo N, Ezer S, Kebede Merid S, Gaertner VD, Söderhäll C, D'Amato M, Kabesch M, Melén E, Kere J, Pulkkinen V. Neuropeptide S (NPS) variants modify the signaling and risk effects of NPS Receptor 1 (NPSR1) variants in asthma. PLoS One 12:e0176568, 2017

Darki F, Massinen S, Salmela E, Matsson H, Peyrard-Janvid M, Klingberg T, Kere J. Human ROBO1 regulates white matter structure in corpus callosum. Brain Struct Funct 222:707, 2017

Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M, Mustjoki S, Krjutškov K, Lehto M, Hautala T, Eriksson O, Jokitalo E, Velagapudi V, Varjosalo M, Seppänen M, Kere J. Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. J Allergy Clin Immunol 139:1391, 2017

Krjutškov K, Koel M, Roost AM, Katayama S, Einarsdottir E, Jouhilahti EM, Söderhäll C, Jaakma Ü, Plaas M, Vesterlund L, Lohi H, Salumets A, Kere J. Globin mRNA reduction for whole-blood transcriptome sequencing. Sci Rep 6:31584, 2016

Jouhilahti E-M, Madissoon E, Vesterlund L, Töhönen V, Krjutshkov K, Plaza Reyes A, Petropoulos S, Månsson R, Linnarsson S, Bürglin T, Lanner F, Hovatta O, Katayama S, Kere J. The human PRD-like homeobox gene LEUTX has a central role in embryo genome activation. Development 143:3459, 2016

Madissoon E, Jouhilahti E-M, Vesterlund L, Töhönen V, Krjutshkov K, Petropoulous S, Einarsdottir E, Linnarsson S, Lanner F, Månsson R, Hovatta O, Bürglin TR, Katayama S, Kere J. Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos. Sci Rep 6:28995, 2016

Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLOS Genet 12:e1006037, 2016

Tervaniemi MH, Katayama S, Skoog T, Siitonen HA, Vuola J, Nuutila K, Sormunen R, Johnsson A, Linnarsson S, Suomela S, Kankuri E, Kere J*, Elomaa O. NOD-like receptor signaling and inflammasome-related pathways are highlighted in psoriatic epidermis. Sci Rep 6:22745, 2016

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

Katayama S, Skoog T, Jouhilahti E-M, Siitonen HA, Nuutila K, Tervaniemi MH, Vuola J, Johnsson A, Lönnerberg P, Linnarsson S, Elomaa O, Kankuri E, Kere J. Gene expression analysis of skin grafts and cultured keratinocytes using synthetic RNA normalization reveals insights into differentiation and growth control. BMC Genomics 16:476, 2015

Haapaniemi EM, Kaustio M, Rajala HLM, van Adrichem A, Doffinger R, Kuusanmäki H, Glumoff V, Heiskanen-Kosma T, Kulmala P, Eldfors S, Katainen R, Siitonen S, Karjalainen-Lindsberg M-L, Kovanen PE, Otonkoski T, Porkka K, Hänninen A, Bryceson YT, Heiskanen K, Kainulainen L, Uusitalo-Seppälä R, Saarela J, Seppänen M, Mustjoki S, Kere J. Autoimmunity, hypogammaglobulinemia, lymphoproliferation and late-onset mycobacterial disease in patients with dominant activating mutations in STAT3. Blood 125:639-648, 2015

Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Lango Allen H, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppänen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nature Genet 46:812-814, 2014

Hannula-Jouppi K, Muurinen M, Lipsanen-Nyman M, Reinius LE, Ezer S, Greco D, Kere J. Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7. Epigenetics 9:351-365, 2014

FANTOM Consortium (incl. Kere J) and the RIKEN PMI and CLST (DGT). A promoter-level mammalian expression atlas. Nature 507:462-470, 2014

Folkhälsan Research Foundation

Academy of Finland

Finska Läkaresällskapet (“Medical Society of Finland”)

Jane and Aatos Erkko Foundation

Sigrid Jusélius Foundation

Dyslexia consortium “DYSGEBRA”: Heikki Lyytinen, PhD, Professor, and Riitta Salmelin, DSc, Professor

Hannele Laivuori, MD, PhD

Hannes Lohi, PhD, Professor

Timo Otonkoski, MD, PhD, Professor

Mikko Seppänen, MD, PhD

Juha Tapanainen, MD, PhD, Professor


    • Juha Kere

      MD, PhD, Professor, Group Leader

    • Tel:
      +46 73 421 3550

    • Contact
    • Outi Elomaa

      PhD, Docent, Administrative Group Leader

    • Tel:
      +358 50 448 5664

    • Contact