ZFIN ID: ZDB-PERS-101208-1
de Vrieze, Erik
Email: erik.devrieze@radboudumc.nl
URL: http://radboudzebrafish.science.ru.nl
Affiliation: Functional genomics and therapeutics / ENT
Address: Radboudumc Dept of Otorhinolaryngology and Dept of Human Genetics (route 855) P.O. box 9101, 6500 HB Nijmegen
Country: Netherlands
Phone: +31 (0) 24 3652876
Fax:
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS
Current project:
Usher Syndrome, Functional Genomics and Therapeutics

Usher syndrome is genetically and clinically heterogeneous. The syndrome combines hearing impairment, retinitis pigmentosa and in part of the patients vestibular impairment. Usher syndrome type IIa (USH2a), the most common type, is caused by mutations in the USH2A gene. Other genes involved in Usher syndrome are MYO7A, USH1C, CDH23, PCDH15 and USH1G (type I), GPR98 and DFNB31 (type II) and USH3A (type III). Also, defects in the USH2A gene are an important cause of non-syndromic retinitis pigmentosa. Usher proteins co-function in a protein network which explains why defects in genes encoding functionally different proteins are causative for one and the same disorder. We have a specific interest in the USH2A protein and whirlin. Recently, we have shown that NINL, which we identified as an interaction partner of USH2A, connects proteins involved in different retinal degeneration disorders (Usher syndrome, Leber congenital amaurosis and Bardet Biedl syndrome). This suggests an overlap in the molecular pathogenesis of these disorders. Further unravelling of the USH protein network is ongoing by using yeast two-hybrid screening and tandem affinity purification (TAP). The mechanisms of hearing impairment in Usher syndrome are at least partly understood. Those of retinal degeneration in Usher syndrome are largely unknown but the localization of the Usher proteins in the region of the connecting cilium of photoreceptor cells suggests that dysfunction of this structure which heavily functions in transport, is involved. To further study the function of Usher proteins and the mechanisms of retinal degeneration we are introducing zebrafish as a model organism. In this model we shall address therapeutic strategies for USH2A-associated retinal degeneration.

Additional research interests:

Endocrinology and bone physiology
I have generated zebrafish models to study endocrine diseases. A good example my assay to study the (anti) osteogenic potential of hormones and drugs based on zebrafish scales. A single fish scale, highly similar to human bone in terms of cell population and matrix, can be cultured ex-vivo as a complete bone unit. This offers many advantages over the use of cell culture systems. Furthermore, the large amount of scales on a single zebrafish allows a drastic reduction of experimental animals compared to mammalian tissue culture.
My interests in endocrinology further extend to thyroidology, stress and metabolism.

Physiology and pathophysiology of inherited retinal diseases
Besides Usher syndrome, I have been involved in the generation and validation of zebrafish models for other hereditary retinal diseases. These models are used to assess the pathogenicity of newly discovered candidate disease genes


PUBLICATIONS
Toms, M., Dubis, A.M., de Vrieze, E., Tracey-White, D., Mitsios, A., Hayes, M., Broekman, S., Baxendale, S., Utoomprurkporn, N., Bamiou, D., Bitner-Glindzicz, M., Webster, A.R., Van Wijk, E., Moosajee, M. (2020) Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. Human molecular genetics. 29(11):1882-1899
van Dam, T.J.P., Kennedy, J., van der Lee, R., de Vrieze, E., Wunderlich, K.A., Rix, S., Dougherty, G.W., Lambacher, N.J., Li, C., Jensen, V.L., Leroux, M.R., Hjeij, R., Horn, N., Texier, Y., Wissinger, Y., van Reeuwijk, J., Wheway, G., Knapp, B., Scheel, J.F., Franco, B., Mans, D.A., van Wijk, E., Képès, F., Slaats, G.G., Toedt, G., Kremer, H., Omran, H., Szymanska, K., Koutroumpas, K., Ueffing, M., Nguyen, T.T., Letteboer, S.J.F., Oud, M.M., van Beersum, S.E.C., Schmidts, M., Beales, P.L., Lu, Q., Giles, R.H., Szklarczyk, R., Russell, R.B., Gibson, T.J., Johnson, C.A., Blacque, O.E., Wolfrum, U., Boldt, K., Roepman, R., Hernandez-Hernandez, V., Huynen, M.A. (2019) CiliaCarta: An integrated and validated compendium of ciliary genes. PLoS One. 14:e0216705
Slijkerman, R., Goloborodko, A., Broekman, S., de Vrieze, E., Hetterschijt, L., Peters, T., Gerits, M., Kremer, H., van Wijk, E. (2018) Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A. Zebrafish. 15(6):597-609
Dona, M., Slijkerman, R., Lerner, K., Broekman, S., Wegner, J., Howat, T., Peters, T., Hetterschijt, L., Boon, N., de Vrieze, E., Sorusch, N., Wolfrum, U., Kremer, H., Neuhauss, S., Zang, J., Kamermans, M., Westerfield, M., Phillips, J., van Wijk, E. (2018) Usherin defects lead to early-onset retinal dysfunction in zebrafish. Experimental Eye Research. 173:148-159
Weisz Hubshman, M., Broekman, S., van Wijk, E., Cremers, F., Abu-Diab, A., Samer, K., Tzur, S., Lagovsky, I., Smirin-Yosef, P., Sharon, D., Haer-Wigman, L., Banin, E., Basel-Vanagaite, L., de Vrieze, E. (2017) Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Human molecular genetics. 27(4):614-624
Roosing, S., Rosti, R.O., Rosti, B., de Vrieze, E., Silhavy, J.L., van Wijk, E., Wakeling, E., Gleeson, J.G. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. Human genetics. 135(8):919-21
Bachmann-Gagescu, R., Dona, M., Hetterschijt, L., Tonnaer, E., Peters, T., de Vrieze, E., Mans, D.A., van Beersum, S.E., Phelps, I.G., Arts, H.H., Keunen, J.E., Ueffing, M., Roepman, R., Boldt, K., Doherty, D., Moens, C.B., Neuhauss, S.C., Kremer, H., van Wijk, E. (2015) The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. PLoS Genetics. 11:e1005575
Dona, M., Bachmann-Gagescu, R., Texier, Y., Toedt, G., Hetterschijt, L., Tonnaer, E.L., Peters, T.A., van Beersum, S.E., Bergboer, J.G., Horn, N., de Vrieze, E., Slijkerman, R.W., van Reeuwijk, J., Flik, G., Keunen, J.E., Ueffing, M., Gibson, T.J., Roepman, R., Boldt, K., Kremer, H., van Wijk, E. (2015) NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish. PLoS Genetics. 11:e1005574
de Vrieze, E., Zethof, J., Schulte-Merker, S., Flik, G., Metz, J.R. (2015) Identification of novel osteogenic compounds by an ex-vivo Sp7:luciferase zebrafish scale assay. Bone. 74:106-13
Roosing, S., Lamers, I.J., de Vrieze, E., van den Born, L.I., Lambertus, S., Arts, H.H., POC1B Study Group, Peters, T.A., Hoyng, C.B., Kremer, H., Hetterschijt, L., Letteboer, S.J., van Wijk, E., Roepman, R., den Hollander, A.I., Cremers, F.P. (2014) Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy. American journal of human genetics. 95(2):131-142
de Vrieze, E., van de Wiel, S.M., Zethof, J., Flik, G., Klaren, P.H., Arjona, F.J. (2014) Knockdown of monocarboxylate transporter 8 (mct8) disturbs brain development and locomotion in zebrafish. Endocrinology. 155(6):2320-30
de Vrieze, E., Moren, M., Metz, J.R., Flik, G., Lie, K.K. (2014) Arachidonic acid enhances turnover of the dermal skeleton: studies on zebrafish scales. PLoS One. 9:e89347
de Vrieze, E., van Kessel, M.A., Peters, H.M., Spanings, F.A., Flik, G., and Metz, J.R. (2014) Prednisolone induces osteoporosis-like phenotype in regenerating zebrafish scales. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 25(2):567-78
Wunderink, Y.S., de Vrieze, E., Metz, J.R., Halm, S., Martínez-Rodríguez, G., Flik, G., Klaren, P.H., and Mancera, J.M. (2012) Subfunctionalization of POMC paralogues in Senegalese sole (Solea senegalensis). General and comparative endocrinology. 175(3):407-415
Arjona, F.J., de Vrieze, E., Visser, T.J., Flik, G., and Klaren, P.H. (2011) Identification and Functional Characterization of Zebrafish Solute Carrier Slc16a2 (Mct8) as a Thyroid Hormone Membrane Transporter. Endocrinology. 152(12):5065-73
de Vrieze, E., Sharif, F., Metz, J.R., Flik, G., and Richardson, M.K. (2011) Matrix metalloproteinases in osteoclasts of ontogenetic and regenerating zebrafish scales. Bone. 48(4):704-712

NON-ZEBRAFISH PUBLICATIONS
Metz, J. R., de Vrieze, E., Lock, E.-J., Schulten, I. E. and Flik, G. (2012), Elasmoid scales of fishes as model in biomedical bone research. Journal of Applied Ichthyology, 28: 382-387.

de Vrieze, E., Heijnen, L., Metz, J. R. and Flik, G. (2012), Evidence for a hydroxyapatite precursor in regenerating cyprinid scales. Journal of Applied Ichthyology, 28: 388-392.

Gorissen, M., de Vrieze, E., Flik, G. & Huising, M. O. (2011). STAT genes display differential evolutionary rates that correlate with their roles in the endocrine and immune system. Journal of Endocrinology 209, 175-184.

E. De Vrieze, J.R. Metz, J.W. Von den Hoff, G. Flik, ALP, TRAcP and cathepsin K in elasmoid scales: a role in mineral metabolism?, Journal of Applied Ichthyology 26 (2010) 210-213.