Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders

Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by synaptic dysfunction and defects in dendritic spine morphology. In the past decade, an extensive list of genes associated with ASD has been identified by genome-wide sequencing initiatives. Seve...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Mario O. Caracci, Miguel E. Avila, Francisca A. Espinoza-Cavieres, Héctor R. López, Giorgia D. Ugarte, Giancarlo V. De Ferrari
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	Wnt/β-catenin signaling transcription chromatin remodeling proteins synaptic dysfunction autism spectrum disorders (ASD) Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/3f6268b8e6b44d5392ac4815be1af1a0
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:3f6268b8e6b44d5392ac4815be1af1a0
record_format	dspace
spelling	oai:doaj.org-article:3f6268b8e6b44d5392ac4815be1af1a02021-11-11T10:24:54ZWnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders1662-509910.3389/fnmol.2021.764756https://doaj.org/article/3f6268b8e6b44d5392ac4815be1af1a02021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fnmol.2021.764756/fullhttps://doaj.org/toc/1662-5099Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by synaptic dysfunction and defects in dendritic spine morphology. In the past decade, an extensive list of genes associated with ASD has been identified by genome-wide sequencing initiatives. Several of these genes functionally converge in the regulation of the Wnt/β-catenin signaling pathway, a conserved cascade essential for stem cell pluripotency and cell fate decisions during development. Here, we review current information regarding the transcriptional program of Wnt/β-catenin signaling in ASD. First, we discuss that Wnt/β-catenin gain and loss of function studies recapitulate brain developmental abnormalities associated with ASD. Second, transcriptomic approaches using patient-derived induced pluripotent stem cells (iPSC) cells, featuring mutations in high confidence ASD genes, reveal a significant dysregulation in the expression of Wnt signaling components. Finally, we focus on the activity of chromatin-remodeling proteins and transcription factors considered high confidence ASD genes, including CHD8, ARID1B, ADNP, and TBR1, that regulate Wnt/β-catenin-dependent transcriptional activity in multiple cell types, including pyramidal neurons, interneurons and oligodendrocytes, cells which are becoming increasingly relevant in the study of ASD. We conclude that the level of Wnt/β-catenin signaling activation could explain the high phenotypical heterogeneity of ASD and be instrumental in the development of new diagnostics tools and therapies.Mario O. CaracciMario O. CaracciMiguel E. AvilaFrancisca A. Espinoza-CavieresFrancisca A. Espinoza-CavieresHéctor R. LópezHéctor R. LópezGiorgia D. UgarteGiorgia D. UgarteGiancarlo V. De FerrariGiancarlo V. De FerrariFrontiers Media S.A.articleWnt/β-catenin signalingtranscriptionchromatin remodeling proteinssynaptic dysfunctionautism spectrum disorders (ASD)Neurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENFrontiers in Molecular Neuroscience, Vol 14 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Wnt/β-catenin signaling transcription chromatin remodeling proteins synaptic dysfunction autism spectrum disorders (ASD) Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	Wnt/β-catenin signaling transcription chromatin remodeling proteins synaptic dysfunction autism spectrum disorders (ASD) Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Mario O. Caracci Mario O. Caracci Miguel E. Avila Francisca A. Espinoza-Cavieres Francisca A. Espinoza-Cavieres Héctor R. López Héctor R. López Giorgia D. Ugarte Giorgia D. Ugarte Giancarlo V. De Ferrari Giancarlo V. De Ferrari Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
description	Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by synaptic dysfunction and defects in dendritic spine morphology. In the past decade, an extensive list of genes associated with ASD has been identified by genome-wide sequencing initiatives. Several of these genes functionally converge in the regulation of the Wnt/β-catenin signaling pathway, a conserved cascade essential for stem cell pluripotency and cell fate decisions during development. Here, we review current information regarding the transcriptional program of Wnt/β-catenin signaling in ASD. First, we discuss that Wnt/β-catenin gain and loss of function studies recapitulate brain developmental abnormalities associated with ASD. Second, transcriptomic approaches using patient-derived induced pluripotent stem cells (iPSC) cells, featuring mutations in high confidence ASD genes, reveal a significant dysregulation in the expression of Wnt signaling components. Finally, we focus on the activity of chromatin-remodeling proteins and transcription factors considered high confidence ASD genes, including CHD8, ARID1B, ADNP, and TBR1, that regulate Wnt/β-catenin-dependent transcriptional activity in multiple cell types, including pyramidal neurons, interneurons and oligodendrocytes, cells which are becoming increasingly relevant in the study of ASD. We conclude that the level of Wnt/β-catenin signaling activation could explain the high phenotypical heterogeneity of ASD and be instrumental in the development of new diagnostics tools and therapies.
format	article
author	Mario O. Caracci Mario O. Caracci Miguel E. Avila Francisca A. Espinoza-Cavieres Francisca A. Espinoza-Cavieres Héctor R. López Héctor R. López Giorgia D. Ugarte Giorgia D. Ugarte Giancarlo V. De Ferrari Giancarlo V. De Ferrari
author_facet	Mario O. Caracci Mario O. Caracci Miguel E. Avila Francisca A. Espinoza-Cavieres Francisca A. Espinoza-Cavieres Héctor R. López Héctor R. López Giorgia D. Ugarte Giorgia D. Ugarte Giancarlo V. De Ferrari Giancarlo V. De Ferrari
author_sort	Mario O. Caracci
title	Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
title_short	Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
title_full	Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
title_fullStr	Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
title_full_unstemmed	Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders
title_sort	wnt/β-catenin-dependent transcription in autism spectrum disorders
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/3f6268b8e6b44d5392ac4815be1af1a0
work_keys_str_mv	AT marioocaracci wntbcatenindependenttranscriptioninautismspectrumdisorders AT marioocaracci wntbcatenindependenttranscriptioninautismspectrumdisorders AT migueleavila wntbcatenindependenttranscriptioninautismspectrumdisorders AT franciscaaespinozacavieres wntbcatenindependenttranscriptioninautismspectrumdisorders AT franciscaaespinozacavieres wntbcatenindependenttranscriptioninautismspectrumdisorders AT hectorrlopez wntbcatenindependenttranscriptioninautismspectrumdisorders AT hectorrlopez wntbcatenindependenttranscriptioninautismspectrumdisorders AT giorgiadugarte wntbcatenindependenttranscriptioninautismspectrumdisorders AT giorgiadugarte wntbcatenindependenttranscriptioninautismspectrumdisorders AT giancarlovdeferrari wntbcatenindependenttranscriptioninautismspectrumdisorders AT giancarlovdeferrari wntbcatenindependenttranscriptioninautismspectrumdisorders
_version_	1718439117249839104

Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders

Ejemplares similares