The loop-tail mouse model displays open and closed caudal neural tube defects

Neural tube defects (NTDs) are the second most common cause of congenital malformations and are often studied in animal models. Loop-tail (Lp) mice carry a mutation in the Vangl2 gene, a member of the Wnt-planar cell polarity pathway. In Vangl2+/Lp embryos, the mutation induces a failure in the comp...

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Autores: Fernández-Santos, Beatriz, Reyes-Corral, Marta, Caro-Vega, J. M., Lao-Pérez, Miguel, Vallejo-Grijalba, Claudia, Mesa-Cruz, Cristina, Morón, Francisco J., Ybot, Patricia
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/347931
Acceso en línea:http://hdl.handle.net/10261/347931
https://api.elsevier.com/content/abstract/scopus_id/85169182311
Access Level:acceso abierto
Palabra clave:Wnt-planar cell polarity pathway
Loop-tail
Vangl2
Lipomyelomeningocele
Neural tube defects
Spina bifida
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spelling The loop-tail mouse model displays open and closed caudal neural tube defectsFernández-Santos, BeatrizReyes-Corral, MartaCaro-Vega, J. M.Lao-Pérez, MiguelVallejo-Grijalba, ClaudiaMesa-Cruz, CristinaMorón, Francisco J.Ybot, PatriciaWnt-planar cell polarity pathwayLoop-tailVangl2LipomyelomeningoceleNeural tube defectsSpina bifidaNeural tube defects (NTDs) are the second most common cause of congenital malformations and are often studied in animal models. Loop-tail (Lp) mice carry a mutation in the Vangl2 gene, a member of the Wnt-planar cell polarity pathway. In Vangl2+/Lp embryos, the mutation induces a failure in the completion of caudal neural tube closure, but only a small percentage of embryos develop open spina bifida. Here, we show that the majority of Vangl2+/Lp embryos developed caudal closed NTDs and presented cellular aggregates that may facilitate the sealing of these defects. The cellular aggregates expressed neural crest cell markers and, using these as a readout, we describe a systematic method to assess the severity of the neural tube dorsal fusion failure. We observed that this defect worsened in combination with other NTD mutants, Daam1 and Grhl3. Besides, we found that in Vangl2+/Lp embryos, these NTDs were resistant to maternal folic acid and inositol supplementation. Loop-tail mice provide a useful model for research on the molecular interactions involved in the development of open and closed NTDs and for the design of prevention strategies for these diseases.This work was supported by the following funding bodies: Consejería de Transformación Económica, Industria, Conocimiento y Universidades and Junta de Andalucía (grants DOC_01701 to M.R.-C. and P20_01267 to P.Y.-G.), Consejería de Salud y Bienestar Social, Junta de Andalucía (grants RH-0033-2020 to M.R.-C., and C-0025-2018, and EF-0084-2016 to P.Y.-G.), Instituto de Salud Carlos III (grants PI17/00693 and PI20/00769 to P.Y.-G.), and Consejo Superior de Investigaciones Científicas and Ministerio de Ciencia e Innovación (grants 202220/095 and 050561 to P.Y.-G.). Open access funding provided by Universidad de Sevilla. Deposited in PMC for immediate release.Peer reviewedCompany of BiologistsJunta de AndalucíaInstituto de Salud Carlos IIIMinisterio de Ciencia e Innovación (España)Consejo Superior de Investigaciones Científicas (España)Universidad de SevillaFernández-Santos, Beatriz [0000-0002-1447-8115]Reyes-Corral, Marta [0000-0002-5490-0624]Caro-Vega, José Manuel [0000-0003-4795-3485]Lao-Pérez, Miguel [0000-0001-6707-6825]Vallejo-Grijalba, Claudia [0009-0008-3008-6446]Mesa-Cruz, Cristina [0000-0003-0751-8593]Morón, Francisco J. [0000-0002-1961-2723]Ybot, Patricia [0000-0001-7836-2659]Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202420242023info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/347931https://api.elsevier.com/content/abstract/scopus_id/85169182311reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésThe underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1242/dmm.050175https://doi.org/10.1242/dmm.050175Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3479312026-05-22T06:33:51Z
dc.title.none.fl_str_mv The loop-tail mouse model displays open and closed caudal neural tube defects
title The loop-tail mouse model displays open and closed caudal neural tube defects
spellingShingle The loop-tail mouse model displays open and closed caudal neural tube defects
Fernández-Santos, Beatriz
Wnt-planar cell polarity pathway
Loop-tail
Vangl2
Lipomyelomeningocele
Neural tube defects
Spina bifida
title_short The loop-tail mouse model displays open and closed caudal neural tube defects
title_full The loop-tail mouse model displays open and closed caudal neural tube defects
title_fullStr The loop-tail mouse model displays open and closed caudal neural tube defects
title_full_unstemmed The loop-tail mouse model displays open and closed caudal neural tube defects
title_sort The loop-tail mouse model displays open and closed caudal neural tube defects
dc.creator.none.fl_str_mv Fernández-Santos, Beatriz
Reyes-Corral, Marta
Caro-Vega, J. M.
Lao-Pérez, Miguel
Vallejo-Grijalba, Claudia
Mesa-Cruz, Cristina
Morón, Francisco J.
Ybot, Patricia
author Fernández-Santos, Beatriz
author_facet Fernández-Santos, Beatriz
Reyes-Corral, Marta
Caro-Vega, J. M.
Lao-Pérez, Miguel
Vallejo-Grijalba, Claudia
Mesa-Cruz, Cristina
Morón, Francisco J.
Ybot, Patricia
author_role author
author2 Reyes-Corral, Marta
Caro-Vega, J. M.
Lao-Pérez, Miguel
Vallejo-Grijalba, Claudia
Mesa-Cruz, Cristina
Morón, Francisco J.
Ybot, Patricia
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Junta de Andalucía
Instituto de Salud Carlos III
Ministerio de Ciencia e Innovación (España)
Consejo Superior de Investigaciones Científicas (España)
Universidad de Sevilla
Fernández-Santos, Beatriz [0000-0002-1447-8115]
Reyes-Corral, Marta [0000-0002-5490-0624]
Caro-Vega, José Manuel [0000-0003-4795-3485]
Lao-Pérez, Miguel [0000-0001-6707-6825]
Vallejo-Grijalba, Claudia [0009-0008-3008-6446]
Mesa-Cruz, Cristina [0000-0003-0751-8593]
Morón, Francisco J. [0000-0002-1961-2723]
Ybot, Patricia [0000-0001-7836-2659]
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Wnt-planar cell polarity pathway
Loop-tail
Vangl2
Lipomyelomeningocele
Neural tube defects
Spina bifida
topic Wnt-planar cell polarity pathway
Loop-tail
Vangl2
Lipomyelomeningocele
Neural tube defects
Spina bifida
description Neural tube defects (NTDs) are the second most common cause of congenital malformations and are often studied in animal models. Loop-tail (Lp) mice carry a mutation in the Vangl2 gene, a member of the Wnt-planar cell polarity pathway. In Vangl2+/Lp embryos, the mutation induces a failure in the completion of caudal neural tube closure, but only a small percentage of embryos develop open spina bifida. Here, we show that the majority of Vangl2+/Lp embryos developed caudal closed NTDs and presented cellular aggregates that may facilitate the sealing of these defects. The cellular aggregates expressed neural crest cell markers and, using these as a readout, we describe a systematic method to assess the severity of the neural tube dorsal fusion failure. We observed that this defect worsened in combination with other NTD mutants, Daam1 and Grhl3. Besides, we found that in Vangl2+/Lp embryos, these NTDs were resistant to maternal folic acid and inositol supplementation. Loop-tail mice provide a useful model for research on the molecular interactions involved in the development of open and closed NTDs and for the design of prevention strategies for these diseases.
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/347931
https://api.elsevier.com/content/abstract/scopus_id/85169182311
url http://hdl.handle.net/10261/347931
https://api.elsevier.com/content/abstract/scopus_id/85169182311
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1242/dmm.050175
https://doi.org/10.1242/dmm.050175
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Company of Biologists
publisher.none.fl_str_mv Company of Biologists
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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