Cargando…

Role of NDE1 in the Development and Evolution of the Gyrified Cortex

An expanded cortex is a hallmark of human neurodevelopment and endows increased cognitive capabilities. Recent work has shown that the cell cycle-related gene NDE1 is essential for proper cortical development. Patients who have mutations in NDE1 exhibit congenital microcephaly as a primary phenotype...

Descripción completa

Detalles Bibliográficos
Autores principales: Soto-Perez, Jaseph, Baumgartner, Marybeth, Kanadia, Rahul N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7775536/
https://www.ncbi.nlm.nih.gov/pubmed/33390896
http://dx.doi.org/10.3389/fnins.2020.617513
_version_ 1783630489515458560
author Soto-Perez, Jaseph
Baumgartner, Marybeth
Kanadia, Rahul N.
author_facet Soto-Perez, Jaseph
Baumgartner, Marybeth
Kanadia, Rahul N.
author_sort Soto-Perez, Jaseph
collection PubMed
description An expanded cortex is a hallmark of human neurodevelopment and endows increased cognitive capabilities. Recent work has shown that the cell cycle-related gene NDE1 is essential for proper cortical development. Patients who have mutations in NDE1 exhibit congenital microcephaly as a primary phenotype. At the cellular level, NDE1 is essential for interkinetic nuclear migration and mitosis of radial glial cells, which translates to an indispensable role in neurodevelopment. The nuclear migration function of NDE1 is well conserved across Opisthokonta. In mammals, multiple isoforms containing alternate terminal exons, which influence the functionality of NDE1, have been reported. It has been noted that the pattern of terminal exon usage mirrors patterns of cortical complexity in mammals. To provide context to these findings, here, we provide a comprehensive review of the literature regarding NDE1, its molecular biology and physiological relevance at the cellular and organismal levels. In particular, we outline the potential roles of NDE1 in progenitor cell behavior and explore the spectrum of NDE1 pathogenic variants. Moreover, we assessed the evolutionary conservation of NDE1 and interrogated whether the usage of alternative terminal exons is characteristic of species with gyrencephalic cortices. We found that gyrencephalic species are more likely to express transcripts that use the human-associated terminal exon, whereas lissencephalic species tend to express transcripts that use the mouse-associated terminal exon. Among gyrencephalic species, the human-associated terminal exon was preferentially expressed by those with a high order of gyrification. These findings underscore phylogenetic relationships between the preferential usage of NDE1 terminal exon and high-order gyrification, which provide insight into cortical evolution underlying high-order brain functions.
format Online
Article
Text
id pubmed-7775536
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-77755362021-01-02 Role of NDE1 in the Development and Evolution of the Gyrified Cortex Soto-Perez, Jaseph Baumgartner, Marybeth Kanadia, Rahul N. Front Neurosci Neuroscience An expanded cortex is a hallmark of human neurodevelopment and endows increased cognitive capabilities. Recent work has shown that the cell cycle-related gene NDE1 is essential for proper cortical development. Patients who have mutations in NDE1 exhibit congenital microcephaly as a primary phenotype. At the cellular level, NDE1 is essential for interkinetic nuclear migration and mitosis of radial glial cells, which translates to an indispensable role in neurodevelopment. The nuclear migration function of NDE1 is well conserved across Opisthokonta. In mammals, multiple isoforms containing alternate terminal exons, which influence the functionality of NDE1, have been reported. It has been noted that the pattern of terminal exon usage mirrors patterns of cortical complexity in mammals. To provide context to these findings, here, we provide a comprehensive review of the literature regarding NDE1, its molecular biology and physiological relevance at the cellular and organismal levels. In particular, we outline the potential roles of NDE1 in progenitor cell behavior and explore the spectrum of NDE1 pathogenic variants. Moreover, we assessed the evolutionary conservation of NDE1 and interrogated whether the usage of alternative terminal exons is characteristic of species with gyrencephalic cortices. We found that gyrencephalic species are more likely to express transcripts that use the human-associated terminal exon, whereas lissencephalic species tend to express transcripts that use the mouse-associated terminal exon. Among gyrencephalic species, the human-associated terminal exon was preferentially expressed by those with a high order of gyrification. These findings underscore phylogenetic relationships between the preferential usage of NDE1 terminal exon and high-order gyrification, which provide insight into cortical evolution underlying high-order brain functions. Frontiers Media S.A. 2020-12-18 /pmc/articles/PMC7775536/ /pubmed/33390896 http://dx.doi.org/10.3389/fnins.2020.617513 Text en Copyright © 2020 Soto-Perez, Baumgartner and Kanadia. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Soto-Perez, Jaseph
Baumgartner, Marybeth
Kanadia, Rahul N.
Role of NDE1 in the Development and Evolution of the Gyrified Cortex
title Role of NDE1 in the Development and Evolution of the Gyrified Cortex
title_full Role of NDE1 in the Development and Evolution of the Gyrified Cortex
title_fullStr Role of NDE1 in the Development and Evolution of the Gyrified Cortex
title_full_unstemmed Role of NDE1 in the Development and Evolution of the Gyrified Cortex
title_short Role of NDE1 in the Development and Evolution of the Gyrified Cortex
title_sort role of nde1 in the development and evolution of the gyrified cortex
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7775536/
https://www.ncbi.nlm.nih.gov/pubmed/33390896
http://dx.doi.org/10.3389/fnins.2020.617513
work_keys_str_mv AT sotoperezjaseph roleofnde1inthedevelopmentandevolutionofthegyrifiedcortex
AT baumgartnermarybeth roleofnde1inthedevelopmentandevolutionofthegyrifiedcortex
AT kanadiarahuln roleofnde1inthedevelopmentandevolutionofthegyrifiedcortex