• PL 63 (Haartmaninkatu 8), 4021

    HELSINGIN YLIOPISTO

    Finland

  • Viikinkaari 5, Biocenter 2

    00790 Helsinki

    Finland

  • PL 63 (Haartmaninkatu 8), 4023

    HELSINGIN YLIOPISTO

    Finland

  • PL 66 (Agnes Sjöbergin katu 2)

    00014

    Finland

  • Finland

19992018
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Personal profile

Description of research and teaching

Our research is focused on the development of canine models of human complex diseases. Our novel approach takes advantage of an experiment initiated by man 15,000 years ago, taming of the wolf and, more recently, generating 400 strictly inbred pure dog breeds.  Canine purebreeding has resulted in highly uniform genomes within each breed, in which the “noise” of background genetic variation is reduced making it easier to detect genetic “signals” that contribute to disease.  That alone would not be very helpful without the fact that several of the essential components of most disease phenotypes can be found and measured in dogs. Dog is a large animal and clinically and physiologically close to human than typical laboratory rodent models. Dogs develop biologically analogous, if not homologous, conditions to human genetic disorders. Canine disorders usually respond to human medications and also other clinical and phenomenological studies suggest that these traits may share biological mechanisms across species. We aim to utilize this unique genetic system to identify new genes for morphology, behavior and various disorders.  Towards our aims, we have established one of the largest Dog DNA Banks in the world with ~60 000 samples from 330 different breeds.

Although we work with many genetic traits in dogs, our research focuses on neurological and neurobehavioral conditions such as common epilepsy and anxiety.  We have already mapped several new loci and genes in these disorders and believe that the natural canine models provide clinically and physiologically relevant models to corresponding human diseases. Comparison of the identified loci, genes and pathways across species will establish dogs as novel therapeutic models to understand the molecular pathogenesis of these complex traits. Meanwhile, breeders will benefit from the new DNA markers developed to identify the carriers for improved breeding plans. Dr Lohi has successfully developed the first advanced gene panel test for dogs, MyDogDNA test (www.mydogdna.com), as an efficient tool for veterinaary diagnostics and breeding programs through his partially owned private company, Genoscoper  Ltd).

More on our research:

www.koirangeenit.fi

www.kissangeenit.fi

External positions

Adjunct Professor, University of Guelph

May 2013 → …

Keywords

  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology
  • 413 Veterinary science
  • 3112 Neurosciences

International and National Collaboration Publications and projects within past five years.

Selected Publications 1999 2018

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Holden, L. A., Arumilli, M., Hytonen, M. K., Hundi, S., Salojärvi, J., Brown, K. H. & Lohi, H., 18 Jul 2018, In : Scientific Reports. 8, 11 p., 10862.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Skin microbiota and allergic symptoms associate with exposure to environmental microbes

Lehtimaki, J., Sinkko, H., Hielm-Bjorkman, A., Salmela, E., Tiira, K., Laatikainen, T., Mäkelainen, S., Kaukonen, M., Uusitalo, L., Hanski, I., Lohi, H. & Ruokolainen, L., 8 May 2018, In : Proceedings of the National Academy of Sciences of the United States of America. 115, 19, p. 4897-4902 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Myotonia congenita in a Labrador Retriever with truncated CLCN1

Quitt, P. R., Hytönen, M. K., Matiasek, K., Rosati, M., Fischer, A. & Lohi, H., 19 Jun 2018, In : Neuromuscular Disorders. 28, 7, p. 597-605 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

Kaukonen, M., Woods, S., Ahonen, S., Lemberg, S., Hellman, M., Hytönen, M. K., Permi, P., Glaser, T. & Lohi, H., 29 May 2018, In : Cell Reports. 23, 9, p. 2643-2652 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

Donner, J., Anderson, H., Davison, S., Hughes, A. M., Bouirmane, J., Lindqvist, J., Lytle, K. M., Ganesan, B., Ottka, C., Ruotanen, P., Kaukonen, M., Forman, O. P., Fretwell, N., Cole, C. A. & Lohi, H., Apr 2018, In : PLoS Genetics. 14, 4, 20 p., 1007361.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Fearful dogs have increased plasma glutamine and gamma-glutamyl glutamine

Puurunen, J., Tiira, K., Vapalahti, K., Lehtonen, M., Hanhineva, K. & Lohi, H., 29 Oct 2018, In : Scientific Reports. 8, 12 p., 15976.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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MKLN1 splicing defect in dogs with lethal acrodermatitis

Bauer, A., Jagannathan, V., Hoegler, S., Richter, B., McEwan, N. A., Thomas, A., Cadieu, E., Andre, C., Hytonen, M. K., Lohi, H., Welle, M. M., Roosje, P., Mellersh, C., Casal, M. L. & Leeb, T., Mar 2018, In : PLoS Genetics. 14, 3, 14 p., 1007264.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Wielaender, F., Sarviaho, R., James, F., Hytönen, M., Cortez, M., Kluger, G., Koskinen, L., Arumilli, M., Kornberg, M., Bathen-Noethen, A., Tipold, A., Rentmeister, K., Bhatti, S., Huelsmeyer, V., Boettcher, I. C., Taestensen, C., Flegel, T., Dietschi, E., Leeb, T., Matiasek, K. & 2 othersFischer, A. & Lohi, H., 7 Mar 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 10, p. 2669-2674 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

Holopainen, S., Hytonen, M. K., Syrja, P., Arumilli, M., Jarvinen, A-K., Rajamaki, M. & Lohi, H., Feb 2017, In : PLoS Genetics. 13, 2, 12 p., 1006625.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome

Wucher, V., Legeai, F., Hedan, B., Rizk, G., Lagoutte, L., Leeb, T., Jagannathan, V., Cadieu, E., David, A., Lohi, H., Cirera, S., Fredholm, M., Botherel, N., Leegwater, P. A. J., Le Beguec, C., Fieten, H., Johnson, J., Alfoldi, J., Andre, C., Lindblad-Toh, K. & 2 othersHitte, C. & Derrien, T., 5 May 2017, In : Nucleic Acids Research. 45, 8, 12 p., e57.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Early weaning increases aggression and stereotypic behaviour in cats

Ahola, M. K., Vapalahti, K. & Lohi, H., 4 Sep 2017, In : Scientific Reports. 7, 9 p., 10412.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Canine models of human rare disorders

Hytönen, M. K. & Lohi, H., 28 Sep 2016, In : Rare Diseases. 4, 1, 6 p., 1241362.

Research output: Contribution to journalReview ArticleScientificpeer-review

Open Access
File

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

Hytönen, M. K., Arumilli, M., Lappalainen, A. K., 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., 17 May 2016, In : PLoS Genetics. 12, 5, 20 p., e1006037.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

Kyostila, K., Syrja, P., Jagannathan, V., Chandrasekar, G., Jokinen, T. S., Seppala, E. H., Becker, D., Drogemuller, M., Dietschi, E., Drogemuller, C., Lang, J., Steffen, F., Rohdin, C., Jaderlund, K. H., Lappalainen, A. K., Hahn, K., Wohlsein, P., Baumgartner, W., Henke, D., Oevermann, A. & 3 othersKere, J., Lohi, H. & Leeb, T., Apr 2015, In : PLoS Genetics. 11, 4, 22 p., 1005169.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

Koskinen, L. L. E., Seppälä, E. H., Belanger, J. M., Arumilli, M., Hakosalo, O., Jokinen, P., Nevalainen, E. M., Viitmaa, R., Jokinen, T. S., Oberbauer, A. M. & Lohi, H., 2015, In : BMC Genomics. 16, 10 p., 465.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease

Wilbe, M., Kozyrev, S. V., Farias, F. H. G., Bremer, H. D., Hedlund, A., Pielberg, G. R., Seppala, E. H., Gustafson, U., Lohi, H., Carlborg, O., Andersson, G., Hansson-Hamlin, H. & Lindblad-Toh, K., Jun 2015, In : PLoS Genetics. 11, 6, 27 p., 1005248.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders

Donner, J., Kaukonen, M., Anderson, H., Moller, F., Kyostila, K., Sankari, S., Hytonen, M., Giger, U. & Lohi, H., 15 Aug 2016, In : PLoS One. 11, 8, 18 p., 0161005.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein Degradation (ERAD) Machinery

Kyöstilä, K., Cizinauskas, S., Seppälä, E., Suhonen, E., Jeserevics, J., Sukura, A., Syrjä, P. E. S. & Lohi, H., 2012, In : PLoS Genetics. 8, p. e1002759 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Novel origins of copy number variation in the dog genome.

Berglund, J., Nevalainen, E., Molin, A. M., Perloski, M., LUPA consortium, Andre, C., Zody, M. C., Sharpe, T., Hitte, C., Lindblad-Toh, K., Lohi, H. T. & Webster, M., 2012, In : Genome Biology. 13, 8, p. R73 41 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping

Vaysse, A., Ratnakumar, A., Derrien, T., Axelsson, E., Pielberg, G. R., Sigurdsson, S., Fall, T., Seppala, E. H., Hansen, M. S. T., Lawley, C. T., Karlsson, E. K., Bannasch, D., Vila, C., Lohi, H., Galibert, F., Fredholm, M., Haggstrom, J., Hedhammar, A., Andre, C., Lindblad-Toh, K. & 3 othersHitte, C., Webster, M. T. & LUPA Consortium, 2011, In : PLoS Genetics. 7, 10, p. e1002316 21 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Variation in Genes Related to Cochlear Biology Is Strongly Associated with Adult-Onset Deafness in Border Collies

Yokoyama, J. S., Lam, E. T., Ruhe, A. L., Erdman, C. A., Robertson, K. R., Webb, A. A., Williams, D. C., Chang, M. L., Hytönen, M. K., Lohi, H., Hamilton, S. P. & Neff, M. W., 1 Sep 2012, In : PLoS Genetics. 8, 9, p. e1002898 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

Seppälä, E. H., Jokinen, T. S., Fukata, M., Fukata, Y., Webster, M. T., Karlsson, E. K., Kilpinen, S. K., Steffen, F., Dietschi, E., Leeb, T., Eklund, R., Zhao, X., Rilstone, J. J., Lindblad-Toh, K., Minassian, B. A. & Lohi, H., 2011, In : PLoS Genetics. 7, 7, p. e1002194 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex

Wilbe, M., Jokinen, P., Truve, K., Seppälä, E. H., Karlsson, E. K., Biagi, T., Hughes, A., Bannasch, D., Andersson, G., Hansson-Hamlin, H., Lohi, H. & Lindblad-Toh, K., 2010, In : Nature Genetics. 42, 3, p. 250-254

Research output: Contribution to journalArticleScientificpeer-review

A mutation in hairless dogs implicates FOXI3 in ectodermal development

Drögemuller, C., Karlsson, E. K., Hytönen, M. K., Perloski, M., Dolf, G., Sainio, K., Lohi, H., Lindblad-Toh, K. & Leeb, T., 2008, In : Science. 321, 5895, p. 1462 1 p.

Research output: Contribution to journalArticleScientificpeer-review

Expanded repeat in canine epilepsy

Lohi, H., Young, E. J., Fitzmaurice, S. N., Rusbridge, C., Chan, E. M., Vervoort, M., Turnbull, J., Zhao, X. C., Ianzano, L., Paterson, A. D., Sutter, N. B., Ostrander, E. A., Andre, C., Shelton, G. D., Ackerley, C. A., Scherer, S. W. & Minassian, B. A., 2005, In : Science. 307, p. 81-81 1 p.

Research output: Contribution to journalArticleScientificpeer-review

Projects 2013 2017

Datasets

Feline biobank

Lohi, H. T. (Creator), University of Helsinki, 2017

Dataset

Canine biobank

Lohi, H. T. (Creator), University of Helsinki, 2017

Dataset

Prizes

Helsingin kaupungin tiedepalkinto 2013

Hannes Tapani Lohi (Recipient), 6 Jun 2013

Prize: Prizes and awards

Activities 2008 2018

Opponent of doctoral dissertation

Hannes Lohi (Supervisor)
24 Aug 2018

Activity: Examination typesOpponent of doctoral dissertation

Chair: Session 3: Neurology

Hannes Tapani Lohi (Speaker)
20 May 201724 May 2017

Activity: Talk or presentation typesInvited talk

Terveydeksi: Koira tieteen palveluksessa

Hannes Lohi (Speaker)
27 Oct 2017

Activity: Talk or presentation typesInvited talk

PAG Conference 2016

Hannes Lohi (Attendee)
7 Jan 201612 Jan 2016

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Canine disease genetics

Hannes Lohi (Speaker)
7 Dec 20169 Dec 2016

Activity: Talk or presentation typesInvited talk

Press / Media

Uhkaako geenimuuntelu terveyttä?

Hannes Tapani Lohi

24/10/2018

1 media contribution

Press/Media: Press / Media

Kaikkein paras kaveri

Hannes Tapani Lohi

08/07/2017

1 media contribution

Press/Media: Press / Media

Kissojen terveyskartoitus

Hannes Tapani Lohi

21/09/2016

1 media contribution

Press/Media: Press / Media

Koirien perinnölliset sairaudet ovat luultua yleisempiä

Hannes Tapani Lohi

18/08/2016

1 media contribution

Press/Media: Press / Media

Koirien veritesti

Hannes Tapani Lohi

16/08/2016

1 media contribution

Press/Media: Press / Media