The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders

Nearly 20% of genes located on the X chromosome are associated with neurodevelopmental disorders (NDD) due to their expression and role in brain functioning. Given their location, several of these genes are either subject to or can escape X-chromosome inactivation (XCI). The degree to which genes ar...

Descripción completa

Detalles Bibliográficos
Autores principales: Brand, Boudewien A, Blesson, Alyssa E, Smith-Hicks, Constance L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305405/
https://www.ncbi.nlm.nih.gov/pubmed/34356138
http://dx.doi.org/10.3390/brainsci11070904
_version_ 1783727566737113088
author Brand, Boudewien A
Blesson, Alyssa E
Smith-Hicks, Constance L.
author_facet Brand, Boudewien A
Blesson, Alyssa E
Smith-Hicks, Constance L.
author_sort Brand, Boudewien A
collection PubMed
description Nearly 20% of genes located on the X chromosome are associated with neurodevelopmental disorders (NDD) due to their expression and role in brain functioning. Given their location, several of these genes are either subject to or can escape X-chromosome inactivation (XCI). The degree to which genes are subject to XCI can influence the NDD phenotype between males and females. We provide a general review of X-linked NDD genes in the context of XCI and detailed discussion of the sex-based differences related to MECP2 and FMR1, two common X-linked causes of NDD that are subject to XCI. Understanding the effects of XCI on phenotypic expression of NDD genes may guide the development of stratification biomarkers in X-linked disorders.
format Online
Article
Text
id pubmed-8305405
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-83054052021-07-25 The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders Brand, Boudewien A Blesson, Alyssa E Smith-Hicks, Constance L. Brain Sci Review Nearly 20% of genes located on the X chromosome are associated with neurodevelopmental disorders (NDD) due to their expression and role in brain functioning. Given their location, several of these genes are either subject to or can escape X-chromosome inactivation (XCI). The degree to which genes are subject to XCI can influence the NDD phenotype between males and females. We provide a general review of X-linked NDD genes in the context of XCI and detailed discussion of the sex-based differences related to MECP2 and FMR1, two common X-linked causes of NDD that are subject to XCI. Understanding the effects of XCI on phenotypic expression of NDD genes may guide the development of stratification biomarkers in X-linked disorders. MDPI 2021-07-09 /pmc/articles/PMC8305405/ /pubmed/34356138 http://dx.doi.org/10.3390/brainsci11070904 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Brand, Boudewien A
Blesson, Alyssa E
Smith-Hicks, Constance L.
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
title The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
title_full The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
title_fullStr The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
title_full_unstemmed The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
title_short The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
title_sort impact of x-chromosome inactivation on phenotypic expression of x-linked neurodevelopmental disorders
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305405/
https://www.ncbi.nlm.nih.gov/pubmed/34356138
http://dx.doi.org/10.3390/brainsci11070904
work_keys_str_mv AT brandboudewiena theimpactofxchromosomeinactivationonphenotypicexpressionofxlinkedneurodevelopmentaldisorders
AT blessonalyssae theimpactofxchromosomeinactivationonphenotypicexpressionofxlinkedneurodevelopmentaldisorders
AT smithhicksconstancel theimpactofxchromosomeinactivationonphenotypicexpressionofxlinkedneurodevelopmentaldisorders
AT brandboudewiena impactofxchromosomeinactivationonphenotypicexpressionofxlinkedneurodevelopmentaldisorders
AT blessonalyssae impactofxchromosomeinactivationonphenotypicexpressionofxlinkedneurodevelopmentaldisorders
AT smithhicksconstancel impactofxchromosomeinactivationonphenotypicexpressionofxlinkedneurodevelopmentaldisorders

Ejemplares similares