A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia

Min Zhao; Charlotte Andrieu-Soler; Laura Kowalczuk; María Paz Cortés; Marianne Berdugo; Marilyn Dernigoghossian; Francisco Halili; Jean-Claude Jeanny; Brigitte Goldenberg; Michèle Savoldelli; Mohamed El Sanharawi; Marie-Christine Naud; Wilfred van Ijcken; Rosanna Pescini-Gobert; Danielle Martinet; Alejandro Maass; J. Wijnholds; Patricia Crisanti; Carlo Rivolta; Francine Behar-Cohen

doi:10.1523/JNEUROSCI.3412-14.2015

A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia

Min Zhao, Charlotte Andrieu-Soler, Laura Kowalczuk, María Paz Cortés, Marianne Berdugo, Marilyn Dernigoghossian, Francisco Halili, Jean-Claude Jeanny, Brigitte Goldenberg, Michèle Savoldelli, Mohamed El Sanharawi, Marie-Christine Naud, Wilfred van Ijcken, Rosanna Pescini-Gobert, Danielle Martinet, Alejandro Maass, J. Wijnholds, Patricia Crisanti, Carlo Rivolta, Francine Behar-Cohen

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We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal Müller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomal recessive indel novel mutation in the Crb1 gene, causing dislocalization of the protein from the retinal Müller glia (RMG)/photoreceptor cell junction. The transcriptomic analyses of primary RMG cultures allowed identification of the dysregulated pathways in BN-J rats compared with wild-type BN rats. Among those pathways, TGF-β and Kit Receptor Signaling, MAPK Cascade, Growth Factors and Inflammatory Pathways, G-Protein Signaling Pathways, Regulation of Actin Cytoskeleton, and Cardiovascular Signaling were found. Potential molecular targets linking RMG/photoreceptor interaction with the development of retinal telangiectasia are identified. This model can help us to better understand the physiopathologic mechanisms of MacTel 2 and other retinal diseases associated with telangiectasia.

Originele taal-2	Engels
Pagina's (van-tot)	6093-106
Aantal pagina's	14
Tijdschrift	Journal of Neuroscience
Volume	35
Nummer van het tijdschrift	15
DOI's	https://doi.org/10.1523/JNEUROSCI.3412-14.2015
Status	Gepubliceerd - 15 apr. 2015

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Zhao, M., Andrieu-Soler, C., Kowalczuk, L., Paz Cortés, M., Berdugo, M., Dernigoghossian, M., Halili, F., Jeanny, J.-C., Goldenberg, B., Savoldelli, M., El Sanharawi, M., Naud, M.-C., van Ijcken, W., Pescini-Gobert, R., Martinet, D., Maass, A., Wijnholds, J., Crisanti, P., Rivolta, C., & Behar-Cohen, F. (2015). A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia. Journal of Neuroscience, 35(15), 6093-106. https://doi.org/10.1523/JNEUROSCI.3412-14.2015

@article{2f7ac741c77443a78237bc7f2b90b8b1,

title = "A New CRB1 Rat Mutation Links M{\"u}ller Glial Cells to Retinal Telangiectasia",

abstract = "We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal M{\"u}ller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomal recessive indel novel mutation in the Crb1 gene, causing dislocalization of the protein from the retinal M{\"u}ller glia (RMG)/photoreceptor cell junction. The transcriptomic analyses of primary RMG cultures allowed identification of the dysregulated pathways in BN-J rats compared with wild-type BN rats. Among those pathways, TGF-β and Kit Receptor Signaling, MAPK Cascade, Growth Factors and Inflammatory Pathways, G-Protein Signaling Pathways, Regulation of Actin Cytoskeleton, and Cardiovascular Signaling were found. Potential molecular targets linking RMG/photoreceptor interaction with the development of retinal telangiectasia are identified. This model can help us to better understand the physiopathologic mechanisms of MacTel 2 and other retinal diseases associated with telangiectasia.",

author = "Min Zhao and Charlotte Andrieu-Soler and Laura Kowalczuk and {Paz Cort{\'e}s}, Mar{\'i}a and Marianne Berdugo and Marilyn Dernigoghossian and Francisco Halili and Jean-Claude Jeanny and Brigitte Goldenberg and Mich{\`e}le Savoldelli and {El Sanharawi}, Mohamed and Marie-Christine Naud and {van Ijcken}, Wilfred and Rosanna Pescini-Gobert and Danielle Martinet and Alejandro Maass and J. Wijnholds and Patricia Crisanti and Carlo Rivolta and Francine Behar-Cohen",

note = "Copyright {\textcopyright} 2015 the authors 0270-6474/15/356093-14$15.00/0.",

year = "2015",

month = apr,

day = "15",

doi = "10.1523/JNEUROSCI.3412-14.2015",

language = "English",

volume = "35",

pages = "6093--106",

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Zhao, M, Andrieu-Soler, C, Kowalczuk, L, Paz Cortés, M, Berdugo, M, Dernigoghossian, M, Halili, F, Jeanny, J-C, Goldenberg, B, Savoldelli, M, El Sanharawi, M, Naud, M-C, van Ijcken, W, Pescini-Gobert, R, Martinet, D, Maass, A, Wijnholds, J, Crisanti, P, Rivolta, C & Behar-Cohen, F 2015, 'A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia', Journal of Neuroscience, vol. 35, nr. 15, blz. 6093-106. https://doi.org/10.1523/JNEUROSCI.3412-14.2015

TY - JOUR

T1 - A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia

AU - Zhao, Min

AU - Andrieu-Soler, Charlotte

AU - Kowalczuk, Laura

AU - Paz Cortés, María

AU - Berdugo, Marianne

AU - Dernigoghossian, Marilyn

AU - Halili, Francisco

AU - Jeanny, Jean-Claude

AU - Goldenberg, Brigitte

AU - Savoldelli, Michèle

AU - El Sanharawi, Mohamed

AU - Naud, Marie-Christine

AU - van Ijcken, Wilfred

AU - Pescini-Gobert, Rosanna

AU - Martinet, Danielle

AU - Maass, Alejandro

AU - Wijnholds, J.

AU - Crisanti, Patricia

AU - Rivolta, Carlo

AU - Behar-Cohen, Francine

PY - 2015/4/15

Y1 - 2015/4/15

N2 - We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal Müller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomal recessive indel novel mutation in the Crb1 gene, causing dislocalization of the protein from the retinal Müller glia (RMG)/photoreceptor cell junction. The transcriptomic analyses of primary RMG cultures allowed identification of the dysregulated pathways in BN-J rats compared with wild-type BN rats. Among those pathways, TGF-β and Kit Receptor Signaling, MAPK Cascade, Growth Factors and Inflammatory Pathways, G-Protein Signaling Pathways, Regulation of Actin Cytoskeleton, and Cardiovascular Signaling were found. Potential molecular targets linking RMG/photoreceptor interaction with the development of retinal telangiectasia are identified. This model can help us to better understand the physiopathologic mechanisms of MacTel 2 and other retinal diseases associated with telangiectasia.

AB - We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal Müller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomal recessive indel novel mutation in the Crb1 gene, causing dislocalization of the protein from the retinal Müller glia (RMG)/photoreceptor cell junction. The transcriptomic analyses of primary RMG cultures allowed identification of the dysregulated pathways in BN-J rats compared with wild-type BN rats. Among those pathways, TGF-β and Kit Receptor Signaling, MAPK Cascade, Growth Factors and Inflammatory Pathways, G-Protein Signaling Pathways, Regulation of Actin Cytoskeleton, and Cardiovascular Signaling were found. Potential molecular targets linking RMG/photoreceptor interaction with the development of retinal telangiectasia are identified. This model can help us to better understand the physiopathologic mechanisms of MacTel 2 and other retinal diseases associated with telangiectasia.

U2 - 10.1523/JNEUROSCI.3412-14.2015

DO - 10.1523/JNEUROSCI.3412-14.2015

M3 - Article

C2 - 25878282

SN - 0270-6474

VL - 35

SP - 6093

EP - 6106

JO - Journal of Neuroscience

JF - Journal of Neuroscience

IS - 15

ER -

A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia

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