Group Lohi

Canine Models of Inherited Diseases

We aim to understand the genetic origin of diseases. We pursue gene identification in dogs as a highly relevant model for human diseases. We have established a large Dog DNA bank with ~ 80,000 samples from over 330 different breeds. This provides a significant resource for various genetic studies.

Genetic studies using association and next generation sequencing approaches have been conducted or are running in numerous different conditions, including idiopathic epilepsy, ataxia, neurodegeneration, eye diseases, anxiety and several developmental abnormalities. We have revealed a novel genetic loci and genes in many of the disorders and continue to validate and characterize the genes and related pathways in different models, including human patients. We have discovered several new genes for the conditions described above. This has provided new candidate genes for human conditions, improved understanding of the related disease mechanisms, and has enabled the development of new gene tests for diagnostic and breeding purposes in dogs. In addition, we are currently in a process of developing a novel metabolomic test for dogs as an additional diagnostic and research tool to support ongoing diseases studies.

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Senior Scientist
Marjo Hytönen, PhD, Administrative Group Leader
Post-Doctoral Scientists
Cesar Araujo, PhD
Ileana Quintero, PhD
Kaisa Kyöstilä, PhD
Jenni Puurunen, PhD

Graduate Students
Julia Niskanen, MSc
Kati Vapalahti, MSc
Emma Hakanen, MSc
Kati Dillard, DVM
Lea Mikkola, MSc
Maria Kaukonen, DVM
Meharji Arumilli, MSc
Milla Ahola, MSc
Saila Holopainen, DVM
Inka Pettinen, MSc
Tiina Heinonen, MSc
Salla Mikkola, MSc
Sruthi Hundi, MSc
Sini Sulkama, MSc

Undergraduate Students
Katariina Sarin, BSc
Ida-Julia Juhola, BSc
Emilia Suonto, BSc

Staff
Sini Karjalainen, Laboratory Assistant

Hytönen MK, Arumilli M, Sarkiala E, Nieminen P and  Lohi H. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet, 2019. doi: 10.1007/s00439-019-01997-8.

Kyöstilä K, Syrjä P, Lappalainen A, Arumilli M, Hundi S, Karkamo V, Viitmaa R, Hytönen MK, Lohi H. A recessive missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. Sci Rep 9:973, 2019.

Sarviaho R, Hakosalo O, Tiira K, Sulkama S, Salmela E, Hytönen MK, Sillanpää MJ, Lohi H. Two novel genomic regions associated with fearfulness in dogs overlap human neuropsychiatric loci, Transl Psych, 9(1):18, 2019.

Kaukonen M, Woods S, Ahonen S, LembergS, Hellman M, Marjo Hytönen M, Permi P, Glaser T, Lohi H. Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease, Cell Reports, doi.org/10.1016/j.celrep.2018.04.118, 2018.

Quitt PR, Hytönen MK, Matiasek K, Fischer A, Lohi H. Congenital myotonia in a Labrador retriever with a novel missense variant in CLCN1. Neuromuscul Disord, S0960-8966(18)30046-4, 2018. 

Wielaender F, Sarviaho R, James F, Hytönen MK, Cortez MA, Kluger G, Koskinen LLE, Arumilli M, Kornberg M, Bathen-Noethen A, Tipold A, Rentmeister K, Bhatti SFM, Hülsmeyer V, Boettcher IC, Tästensen C, Flegel T, Dietschi E, Leeb T, Matiasek K, Fischer A, Lohi H. Canine juvenile myoclonic epilepsy with photosensitivity caused by a defective Ras family GTPase DIRAS1. PNAS, 2017. doi: 10.1073/pnas.1614478114.

Holopainen S, Hytönen MK, Syrjä P, Arumilli M, Järvinen A-K, Rajamäki M, Lohi H. ANLN Truncation Causes a Familial Fatal Acute Respiratory Distress Syndrome in Dalmatian Dogs. PloS Genet, 13(2):e1006625, 2017.

Puurunen J, Tiira K, Vapalahti K, Lehtonen M, Hanhineva K & Lohi H. Fearful dogs have increased plasma glutamine and g-glutamyl glutamine. Sci Rep, 8(1):15976, 2018.

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 and Lohi H. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PloS Genet, 2016. 

Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner B, Henke D, Oevermann A, Kere J, Lohi H*, Leeb T*. A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease, PloS Genet, 11(4):e1005169, 2015. * co- corresponding

Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P and Lohi H. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum -associated protein degradation (ERAD) machinery. PLoS Genet, 8(6): e1002759, 2012.

Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S, Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 Truncation Causes A Remitting Focal Epilepsy in Dogs, PLoS Genet, 7(7):e1002194, 2011.

Wilbe M, Jokinen P, Truvé K, Seppala E, Karlsson E, Biagi T, Hughes A, Bannasch D, Andersson G, Hansson-Hamlin H*, Lohi H* and Lindblad-Toh K*. Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex. Nat Genet, 42(3):250-4, 2010. *co-directed.

Drögemüller C, Karlsson EK, Hytönen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K & Leeb T. Identification of the canine hairless mutation reveals an essential role for FOXI3 in ectodermal development. Science 321(5895):1462, 2008.

Lohi H, Young EJ, Fitzmaurice S, Rusbridge C, Chan, Vervoort M, Turnbull J, Ianzano L, Paterson AD, Sutter N, Ostrander EA, Andre C, Shelton DG, Ackerley CA, Scherer 2013- SW, Minassian BA. Expanded repeat in canine epilepsy. Science, 307:81, 2005. Highlighted in the Kids Summary in the same Issue.

Folkhälsan Research Center

Academy of Finland

Canine Health Foundation, AKC, US

HiLIFE

Dog Health Research Fund, University of Helsinki


ILS Doctoral Program

DVM Doctoral Program

Finnish Cultural Foundation

Orion Farmos Research Foundation

Jane and Aatos Erkko Foundation

Sigrid Jusélius Foundation

 Finnish Cat Association

University of Helsinki

Dog and Cat Breed Clubs

Wisdom Health

Contact

    • Hannes Lohi

      PhD, Professor, Group Leader

    • Tel:
      +358 50 319 9319

    • Contact
    • Marjo Hytönen

      PhD, Administrative Group Leader

    • Tel:
      +358 50 319 9322

    • Contact