Group Lohi

Canine Models of Human 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, Docent, Administrative Group Leader

Post-Doctoral Scientists

Meharji Arumilli, PhD
Milla Ahola, PhD
Cesar Araujo, PhD
Maria Kaukonen, DVM, PhD, visiting scientist

Graduate Students

Julia Niskanen, MSc
Inka Pettinen, MSc
Tiina Heinonen, MSc
Katariina Vapalahti, MSc
Emma Hakanen, MSc
Saila Holopainen, DVM
Salla Mikkola, MSc
Sruthi Hundi, MSc
Sini Sulkama, MSc

Undergraduate Students
Katariina Sarin, BSc


Sini Karjalainen, Laboratory Assistant

Kaukonen M, Pettinen I-T, Wickström K, Arumilli M, Donner J, Juhola I-J, Holopainen S, Turunen JA, Yoshihara M, Kere J, Lohi H. A missense variant in IFT122 associated with a canine model of retinitis pigmentosa. Hum Genet, doi: 10.1007/s00439-021-02266-3, 2021.

Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Quintero I, Arumilli M, Donner J, Anttila M, Bindoff LA, Suomalainen A and Lohi H. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Hum Genet, 2021.

Kyöstilä K, Niskanen JE, Arumilli M, Donner J, Hytönen MK, Lohi H. Intronic variant in POU1F1 associated with canine pituitary dwarfism, Hum Genet, doi: 10.1007/s00439-021-02259-2, 2021.

Niskanen JE, Reunanen V, Salonen M, Bannasch D, Lappalainen AK, Lohi H*, Hytönen MK* Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Hum Genet, doi: 10.1007/s00439-021-02261-8, 2021. *co-corresponding

Mikkola L, Kyöstilä K, Donner J, Lappalainen AK, Hytönen MK, Lohi H*, IivanainenA. An across-breed validation study of 46 genetic markers in canine hip dysplasia, BMC Genomics, 22(1):68, 2021. *co-senior

Sarviaho R, Hakosalo O, Tiira K, Sulkama S, Niskanen JE, Hytönen MK, Sillanpää MJ, Lohi H. A novel genomic region on chromosome 11 associated with fearfulness in dogs, Transl Psych, 10(1):169, 2020.

Kaukonen M, Mukarram AK, Quintero IB, Wickström K, Kaisa Kyöstilä K, Arumilli M, Jalomäki S, Daub CO, Kere J, DoGA consortium, Lohi H. A putative silencer variant in a spontaneous canine model of retinitis pigmentosa, PloS Genet, 16(3):e1008659, 2020.

Dillard KJ, Ochs M, Niskanen JE, Arumilli M, Hytönen MK, Anttila M, Lohi H. Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet, 16(3):e1008651, 2020.

Arumilli M, Layer R, Hytönen M, Lohi H. webGQT: A Graphical User Interface for Genotype Query Tools, Front Genet, 11:152, 2020.

Puurunen J, Hakanen E, Salonen MK, Mikkola S, Sulkama S, Araujo S, Lohi H. Inadequate socialisation, inactivity, and urban living environment are associated with social fearfulness in pet dogs. Sci Rep, 10(1):3527, 2020.

Salonen M,Sulkama S, Mikkola S, Puurunen J, Hakanen E, Tiira K, Araujo C, Lohi H. Prevalence, comorbidity, and breed differences of canine anxiety in 13,700 Finnish pet dogs. Sci Rep, 10(1):2962, 2020.

Mikkola LI, Holopainen S, Lappalainen AK, Pessa-Morikawa T, Augustine TJP, Arumilli M, Hytönen MK, Hakosalo O, Lohi H*, Iivanainen A*. Protective regulatory NOG variants against hip dysplasia in German Shepherds, PLoS Genet, 15(7):e1008197, 2019.

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.

Hytönen MK and Lohi H. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds. Hum Genet, 2019.   doi: 10.1007/s00439-019-02005-9.

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,, 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.

Jane and Aatos Erkko Foundation

Sigrid Jusélius Foundation

Cancer Foundation Finland

The Finnish Society of Sciences and Letters

Heart Foundation

Kennel Club Charitable Trust

Leonberger Health Foundation International

Folkhälsan Research Center

Academy of Finland

Dog Health Research Fund, University of Helsinki
Finnish Cat Association

Agria Foundation

University of Helsinki

Dog and Cat Breed Clubs

Wisdom Health

ABCA Health, US


    • Hannes Lohi

      PhD, Professor, Group Leader

    • Tel:
      +358 50 319 9319

    • Contact
    • Marjo Hytönen

      PhD, Administrative Group Leader

    • Tel:
      +358 50 319 9322

    • Contact