Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.

Congenital hydrocephalus (CH) is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage) of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles) is a...

Full description

Saved in:
Bibliographic Details
Main Authors: Kristie Lee, Jacqueline Tan, Michael B Morris, Karine Rizzoti, James Hughes, Pike See Cheah, Fernando Felquer, Xuan Liu, Sandra Piltz, Robin Lovell-Badge, Paul Q Thomas
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0029041&type=printable
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850224596801814528
author Kristie Lee
Jacqueline Tan
Michael B Morris
Karine Rizzoti
James Hughes
Pike See Cheah
Fernando Felquer
Xuan Liu
Sandra Piltz
Robin Lovell-Badge
Paul Q Thomas
author_facet Kristie Lee
Jacqueline Tan
Michael B Morris
Karine Rizzoti
James Hughes
Pike See Cheah
Fernando Felquer
Xuan Liu
Sandra Piltz
Robin Lovell-Badge
Paul Q Thomas
author_sort Kristie Lee
collection DOAJ
description Congenital hydrocephalus (CH) is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage) of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles) is a common form of CH in humans, although the genetic basis of this condition is unknown. Mouse models of CH indicate that Aq stenosis is associated with abnormal development of the subcommmissural organ (SCO) a small secretory organ located at the dorsal midline of the caudal diencephalon. Glycoproteins secreted by the SCO generate Reissner's fibre (RF), a thread-like structure that descends into the Aq and is thought to maintain its patency. However, despite the importance of SCO function in CSF homeostasis, the genetic program that controls SCO development is poorly understood. Here, we show that the X-linked transcription factor SOX3 is expressed in the murine SCO throughout its development and in the mature organ. Importantly, overexpression of Sox3 in the dorsal diencephalic midline of transgenic mice induces CH via a dose-dependent mechanism. Histological, gene expression and cellular proliferation studies indicate that Sox3 overexpression disrupts the development of the SCO primordium through inhibition of diencephalic roof plate identity without inducing programmed cell death. This study provides further evidence that SCO function is essential for the prevention of hydrocephalus and indicates that overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner.
format Article
id doaj-art-4ab0c3c13cf749cf9ccda5094c4b1a50
institution OA Journals
issn 1932-6203
language English
publishDate 2012-01-01
publisher Public Library of Science (PLoS)
record_format Article
series PLoS ONE
spelling doaj-art-4ab0c3c13cf749cf9ccda5094c4b1a502025-08-20T02:05:35ZengPublic Library of Science (PLoS)PLoS ONE1932-62032012-01-0171e2904110.1371/journal.pone.0029041Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.Kristie LeeJacqueline TanMichael B MorrisKarine RizzotiJames HughesPike See CheahFernando FelquerXuan LiuSandra PiltzRobin Lovell-BadgePaul Q ThomasCongenital hydrocephalus (CH) is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage) of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles) is a common form of CH in humans, although the genetic basis of this condition is unknown. Mouse models of CH indicate that Aq stenosis is associated with abnormal development of the subcommmissural organ (SCO) a small secretory organ located at the dorsal midline of the caudal diencephalon. Glycoproteins secreted by the SCO generate Reissner's fibre (RF), a thread-like structure that descends into the Aq and is thought to maintain its patency. However, despite the importance of SCO function in CSF homeostasis, the genetic program that controls SCO development is poorly understood. Here, we show that the X-linked transcription factor SOX3 is expressed in the murine SCO throughout its development and in the mature organ. Importantly, overexpression of Sox3 in the dorsal diencephalic midline of transgenic mice induces CH via a dose-dependent mechanism. Histological, gene expression and cellular proliferation studies indicate that Sox3 overexpression disrupts the development of the SCO primordium through inhibition of diencephalic roof plate identity without inducing programmed cell death. This study provides further evidence that SCO function is essential for the prevention of hydrocephalus and indicates that overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0029041&type=printable
spellingShingle Kristie Lee
Jacqueline Tan
Michael B Morris
Karine Rizzoti
James Hughes
Pike See Cheah
Fernando Felquer
Xuan Liu
Sandra Piltz
Robin Lovell-Badge
Paul Q Thomas
Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.
PLoS ONE
title Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.
title_full Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.
title_fullStr Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.
title_full_unstemmed Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.
title_short Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.
title_sort congenital hydrocephalus and abnormal subcommissural organ development in sox3 transgenic mice
url https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0029041&type=printable
work_keys_str_mv AT kristielee congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT jacquelinetan congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT michaelbmorris congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT karinerizzoti congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT jameshughes congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT pikeseecheah congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT fernandofelquer congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT xuanliu congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT sandrapiltz congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT robinlovellbadge congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice
AT paulqthomas congenitalhydrocephalusandabnormalsubcommissuralorgandevelopmentinsox3transgenicmice