Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.

Ciliopathies lead to multiorgan pathologies that include renal cysts, deafness, obesity and retinal degeneration. Retinal photoreceptors have connecting cilia joining the inner and outer segment that are responsible for transport of molecules to develop and maintain the outer segment process. The pr...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Sarika Tiwari, Scott Hudson, Vincent H Gattone, Caroline Miller, Ellen A G Chernoff, Teri L Belecky-Adams
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a17b55a7275e4518b9b114d376fc4e30
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:a17b55a7275e4518b9b114d376fc4e30
record_format	dspace
spelling	oai:doaj.org-article:a17b55a7275e4518b9b114d376fc4e302021-11-18T07:53:32ZMeckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.1932-620310.1371/journal.pone.0059306https://doaj.org/article/a17b55a7275e4518b9b114d376fc4e302013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23516626/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Ciliopathies lead to multiorgan pathologies that include renal cysts, deafness, obesity and retinal degeneration. Retinal photoreceptors have connecting cilia joining the inner and outer segment that are responsible for transport of molecules to develop and maintain the outer segment process. The present study evaluated meckelin (MKS3) expression during outer segment genesis and determined the consequences of mutant meckelin on photoreceptor development and survival in Wistar polycystic kidney disease Wpk/Wpk rat using immunohistochemistry, analysis of cell death and electron microscopy. MKS3 was ubiquitously expressed throughout the retina at postnatal day 10 (P10) and P21. However, in the mature retina, MKS3 expression was restricted to photoreceptors and the retinal ganglion cell layer. At P10, both the wild type and homozygous Wpk mutant retina had all retinal cell types. In contrast, by P21, cells expressing rod- and cone-specific markers were fewer in number and expression of opsins appeared to be abnormally localized to the cell body. Cell death analyses were consistent with the disappearance of photoreceptor-specific markers and showed that the cells were undergoing caspase-dependent cell death. By electron microscopy, P10 photoreceptors showed rudimentary outer segments with an axoneme, but did not develop outer segment discs that were clearly present in the wild type counterpart. At p21 the mutant outer segments appeared much the same as the P10 mutant outer segments with only a short axoneme, while the wild-type controls had developed outer segments with many well-organized discs. We conclude that MKS3 is not important for formation of connecting cilium and rudimentary outer segments, but is critical for the maturation of outer segment processes.Sarika TiwariScott HudsonVincent H GattoneCaroline MillerEllen A G ChernoffTeri L Belecky-AdamsPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 3, p e59306 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sarika Tiwari Scott Hudson Vincent H Gattone Caroline Miller Ellen A G Chernoff Teri L Belecky-Adams Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.
description	Ciliopathies lead to multiorgan pathologies that include renal cysts, deafness, obesity and retinal degeneration. Retinal photoreceptors have connecting cilia joining the inner and outer segment that are responsible for transport of molecules to develop and maintain the outer segment process. The present study evaluated meckelin (MKS3) expression during outer segment genesis and determined the consequences of mutant meckelin on photoreceptor development and survival in Wistar polycystic kidney disease Wpk/Wpk rat using immunohistochemistry, analysis of cell death and electron microscopy. MKS3 was ubiquitously expressed throughout the retina at postnatal day 10 (P10) and P21. However, in the mature retina, MKS3 expression was restricted to photoreceptors and the retinal ganglion cell layer. At P10, both the wild type and homozygous Wpk mutant retina had all retinal cell types. In contrast, by P21, cells expressing rod- and cone-specific markers were fewer in number and expression of opsins appeared to be abnormally localized to the cell body. Cell death analyses were consistent with the disappearance of photoreceptor-specific markers and showed that the cells were undergoing caspase-dependent cell death. By electron microscopy, P10 photoreceptors showed rudimentary outer segments with an axoneme, but did not develop outer segment discs that were clearly present in the wild type counterpart. At p21 the mutant outer segments appeared much the same as the P10 mutant outer segments with only a short axoneme, while the wild-type controls had developed outer segments with many well-organized discs. We conclude that MKS3 is not important for formation of connecting cilium and rudimentary outer segments, but is critical for the maturation of outer segment processes.
format	article
author	Sarika Tiwari Scott Hudson Vincent H Gattone Caroline Miller Ellen A G Chernoff Teri L Belecky-Adams
author_facet	Sarika Tiwari Scott Hudson Vincent H Gattone Caroline Miller Ellen A G Chernoff Teri L Belecky-Adams
author_sort	Sarika Tiwari
title	Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.
title_short	Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.
title_full	Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.
title_fullStr	Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.
title_full_unstemmed	Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.
title_sort	meckelin 3 is necessary for photoreceptor outer segment development in rat meckel syndrome.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/a17b55a7275e4518b9b114d376fc4e30
work_keys_str_mv	AT sarikatiwari meckelin3isnecessaryforphotoreceptoroutersegmentdevelopmentinratmeckelsyndrome AT scotthudson meckelin3isnecessaryforphotoreceptoroutersegmentdevelopmentinratmeckelsyndrome AT vincenthgattone meckelin3isnecessaryforphotoreceptoroutersegmentdevelopmentinratmeckelsyndrome AT carolinemiller meckelin3isnecessaryforphotoreceptoroutersegmentdevelopmentinratmeckelsyndrome AT ellenagchernoff meckelin3isnecessaryforphotoreceptoroutersegmentdevelopmentinratmeckelsyndrome AT terilbeleckyadams meckelin3isnecessaryforphotoreceptoroutersegmentdevelopmentinratmeckelsyndrome
_version_	1718422820033134592

Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.

Ejemplares similares