Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.

In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. The severity of the phenotype due to human CRB1 or mouse Crb1 mutations is dependent on the genetic background. Mice on C57BL/6J background with C...

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Autores principales:	Celso Henrique Alves, Koen Bossers, Rogier M Vos, Anke H W Essing, Sigrid Swagemakers, Peter J van der Spek, Joost Verhaagen, Jan Wijnholds
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/8cc487749150411fbefec8945a025999
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spelling	oai:doaj.org-article:8cc487749150411fbefec8945a0259992021-11-18T08:43:05ZMicroarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.1932-620310.1371/journal.pone.0082532https://doaj.org/article/8cc487749150411fbefec8945a0259992013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24324803/?tool=EBIhttps://doaj.org/toc/1932-6203In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. The severity of the phenotype due to human CRB1 or mouse Crb1 mutations is dependent on the genetic background. Mice on C57BL/6J background with Crb1 mutations show late onset of retinal spotting phenotype or no phenotype. Recently, we showed that conditional deletion of mouse Crb2 in the retina results in early retinal disorganization leading to severe and progressive retinal degeneration with concomitant visual loss that mimics retinitis pigmentosa due to mutations in the CRB1 gene. Recent studies in the fruit fly and zebrafish suggest roles of the Crumbs (CRB) complex members in the regulation of cellular signalling pathways including the Notch1, mechanistic target of rapamycin complex 1 (mTORC1) and the Hippo pathway. Here, we demonstrate that mice backcrossed to C57BL/6J background with loss of CRB2 in the retina show a progressive disorganization and degeneration phenotype during late retinal development. We used microarray gene profiling to study the transcriptome of retinas lacking CRB2 during late retinal development. Unexpectedly, the retinas of newborn mice lacking CRB2 showed no changes in the transcriptome during retinal development. These findings suggest that loss of CRB2 in the developing retina results in retinal disorganization and subsequent degeneration without major changes in the transcriptome of the retina. These mice might be an interesting model to study the onset of retinal degeneration upon loss of CRB proteins.Celso Henrique AlvesKoen BossersRogier M VosAnke H W EssingSigrid SwagemakersPeter J van der SpekJoost VerhaagenJan WijnholdsPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 12, p e82532 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Celso Henrique Alves Koen Bossers Rogier M Vos Anke H W Essing Sigrid Swagemakers Peter J van der Spek Joost Verhaagen Jan Wijnholds Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.
description	In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. The severity of the phenotype due to human CRB1 or mouse Crb1 mutations is dependent on the genetic background. Mice on C57BL/6J background with Crb1 mutations show late onset of retinal spotting phenotype or no phenotype. Recently, we showed that conditional deletion of mouse Crb2 in the retina results in early retinal disorganization leading to severe and progressive retinal degeneration with concomitant visual loss that mimics retinitis pigmentosa due to mutations in the CRB1 gene. Recent studies in the fruit fly and zebrafish suggest roles of the Crumbs (CRB) complex members in the regulation of cellular signalling pathways including the Notch1, mechanistic target of rapamycin complex 1 (mTORC1) and the Hippo pathway. Here, we demonstrate that mice backcrossed to C57BL/6J background with loss of CRB2 in the retina show a progressive disorganization and degeneration phenotype during late retinal development. We used microarray gene profiling to study the transcriptome of retinas lacking CRB2 during late retinal development. Unexpectedly, the retinas of newborn mice lacking CRB2 showed no changes in the transcriptome during retinal development. These findings suggest that loss of CRB2 in the developing retina results in retinal disorganization and subsequent degeneration without major changes in the transcriptome of the retina. These mice might be an interesting model to study the onset of retinal degeneration upon loss of CRB proteins.
format	article
author	Celso Henrique Alves Koen Bossers Rogier M Vos Anke H W Essing Sigrid Swagemakers Peter J van der Spek Joost Verhaagen Jan Wijnholds
author_facet	Celso Henrique Alves Koen Bossers Rogier M Vos Anke H W Essing Sigrid Swagemakers Peter J van der Spek Joost Verhaagen Jan Wijnholds
author_sort	Celso Henrique Alves
title	Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.
title_short	Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.
title_full	Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.
title_fullStr	Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.
title_full_unstemmed	Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.
title_sort	microarray and morphological analysis of early postnatal crb2 mutant retinas on a pure c57bl/6j genetic background.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/8cc487749150411fbefec8945a025999
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Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.

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