Tubulin genes and malformations of cortical development

A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. The major tubulin sub...

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Published inEuropean journal of medical genetics Vol. 61; no. 12; pp. 744 - 754
Main Authors Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E., Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T., Cushion, Thomas D.
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier Masson SAS 01.12.2018
Subjects
Basal Ganglia - pathology
Brain - diagnostic imaging
Brain - growth & development
Brain - pathology
Cell Differentiation - genetics
Corpus Callosum - pathology
Humans
Lissencephaly
Malformations of cortical development
Malformations of Cortical Development - diagnostic imaging
Malformations of Cortical Development - genetics
Malformations of Cortical Development - pathology
Mutation
Neuroimaging
Polymicrogyria
Tubulin - genetics
Tubulin gene mutations
Tubulinopathies
Polymicrogyria
Tubulin gene mutations
Lissencephaly
Tubulinopathies
Malformations of cortical development
Online AccessGet full text
ISSN1769-7212
1878-0849
1878-0849
DOI10.1016/j.ejmg.2018.07.012

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Abstract A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. The major tubulin subclasses (alpha- and beta-tubulin) share high sequence and structural homology. These globular proteins form heterodimers and subsequently co-assemble into microtubules. Microtubules are dynamic, cytoskeletal polymers which play key roles in cellular processes crucial for cortical development, including neuronal proliferation, migration and cortical laminar organisation. Mutations in seven genes encoding alpha-tubulin (TUBA1A), beta-tubulin (TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB) and gamma-tubulin (TUBG1) isoforms have been associated with a wide and overlapping range of brain malformations or “Tubulinopathies”. The majority of cortical phenotypes include lissencephaly, polymicrogyria, microlissencephaly and simplified gyration. Well-known hallmarks of the tubulinopathies include dysmorphism of the basal ganglia (fusion of the caudate nucleus and putamen with absence of the anterior limb of the internal capsule), midline commissural structures hypoplasia and/or agenesis (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, cerebellar hypoplasia or dysplasia and dysmorphism of the hind-brain structures. The cortical and extra-cortical brain phenotypes observed are largely dependent on the specific tubulin gene affected. In the present review, all the published data on tubulin family gene mutations and the associated cortical phenotypes are summarized. In addition, the most typical neuroimaging patterns of malformations of cortical development associated with tubulin gene mutations detected on the basis of our own experience are described.
AbstractList A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. The major tubulin subclasses (alpha- and beta-tubulin) share high sequence and structural homology. These globular proteins form heterodimers and subsequently co-assemble into microtubules. Microtubules are dynamic, cytoskeletal polymers which play key roles in cellular processes crucial for cortical development, including neuronal proliferation, migration and cortical laminar organisation. Mutations in seven genes encoding alpha-tubulin (TUBA1A), beta-tubulin (TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB) and gamma-tubulin (TUBG1) isoforms have been associated with a wide and overlapping range of brain malformations or "Tubulinopathies". The majority of cortical phenotypes include lissencephaly, polymicrogyria, microlissencephaly and simplified gyration. Well-known hallmarks of the tubulinopathies include dysmorphism of the basal ganglia (fusion of the caudate nucleus and putamen with absence of the anterior limb of the internal capsule), midline commissural structures hypoplasia and/or agenesis (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, cerebellar hypoplasia or dysplasia and dysmorphism of the hind-brain structures. The cortical and extra-cortical brain phenotypes observed are largely dependent on the specific tubulin gene affected. In the present review, all the published data on tubulin family gene mutations and the associated cortical phenotypes are summarized. In addition, the most typical neuroimaging patterns of malformations of cortical development associated with tubulin gene mutations detected on the basis of our own experience are described.A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. The major tubulin subclasses (alpha- and beta-tubulin) share high sequence and structural homology. These globular proteins form heterodimers and subsequently co-assemble into microtubules. Microtubules are dynamic, cytoskeletal polymers which play key roles in cellular processes crucial for cortical development, including neuronal proliferation, migration and cortical laminar organisation. Mutations in seven genes encoding alpha-tubulin (TUBA1A), beta-tubulin (TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB) and gamma-tubulin (TUBG1) isoforms have been associated with a wide and overlapping range of brain malformations or "Tubulinopathies". The majority of cortical phenotypes include lissencephaly, polymicrogyria, microlissencephaly and simplified gyration. Well-known hallmarks of the tubulinopathies include dysmorphism of the basal ganglia (fusion of the caudate nucleus and putamen with absence of the anterior limb of the internal capsule), midline commissural structures hypoplasia and/or agenesis (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, cerebellar hypoplasia or dysplasia and dysmorphism of the hind-brain structures. The cortical and extra-cortical brain phenotypes observed are largely dependent on the specific tubulin gene affected. In the present review, all the published data on tubulin family gene mutations and the associated cortical phenotypes are summarized. In addition, the most typical neuroimaging patterns of malformations of cortical development associated with tubulin gene mutations detected on the basis of our own experience are described.
A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. The major tubulin subclasses (alpha- and beta-tubulin) share high sequence and structural homology. These globular proteins form heterodimers and subsequently co-assemble into microtubules. Microtubules are dynamic, cytoskeletal polymers which play key roles in cellular processes crucial for cortical development, including neuronal proliferation, migration and cortical laminar organisation. Mutations in seven genes encoding alpha-tubulin (TUBA1A), beta-tubulin (TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB) and gamma-tubulin (TUBG1) isoforms have been associated with a wide and overlapping range of brain malformations or “Tubulinopathies”. The majority of cortical phenotypes include lissencephaly, polymicrogyria, microlissencephaly and simplified gyration. Well-known hallmarks of the tubulinopathies include dysmorphism of the basal ganglia (fusion of the caudate nucleus and putamen with absence of the anterior limb of the internal capsule), midline commissural structures hypoplasia and/or agenesis (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, cerebellar hypoplasia or dysplasia and dysmorphism of the hind-brain structures. The cortical and extra-cortical brain phenotypes observed are largely dependent on the specific tubulin gene affected. In the present review, all the published data on tubulin family gene mutations and the associated cortical phenotypes are summarized. In addition, the most typical neuroimaging patterns of malformations of cortical development associated with tubulin gene mutations detected on the basis of our own experience are described.
Author Bassi, Maria T.
Borgatti, Renato
Arrigoni, Filippo
Cushion, Thomas D.
Romaniello, Romina
Fry, Andrew E.
Rees, Mark I.
Pilz, Daniela T.
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  surname: Romaniello
  fullname: Romaniello, Romina
  organization: Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
– sequence: 2
  givenname: Filippo
  orcidid: 0000-0002-5508-1149
  surname: Arrigoni
  fullname: Arrigoni, Filippo
  organization: Neuroimaging Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
– sequence: 3
  givenname: Andrew E.
  surname: Fry
  fullname: Fry, Andrew E.
  organization: Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
– sequence: 4
  givenname: Maria T.
  surname: Bassi
  fullname: Bassi, Maria T.
  organization: Laboratory of Molecular Biology, Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
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  surname: Rees
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  organization: Institute of Life Science, College of Medicine, Swansea University, Swansea, UK
– sequence: 6
  givenname: Renato
  surname: Borgatti
  fullname: Borgatti, Renato
  organization: Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
– sequence: 7
  givenname: Daniela T.
  surname: Pilz
  fullname: Pilz, Daniela T.
  organization: West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK
– sequence: 8
  givenname: Thomas D.
  surname: Cushion
  fullname: Cushion, Thomas D.
  email: CushionT@cardiff.ac.uk
  organization: Department of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK
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Issue 12
Keywords Polymicrogyria
Tubulin gene mutations
Lissencephaly
Tubulinopathies
Malformations of cortical development
Language English
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Snippet A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression...
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SubjectTerms Basal Ganglia - pathology
Brain - diagnostic imaging
Brain - growth & development
Brain - pathology
Cell Differentiation - genetics
Corpus Callosum - pathology
Humans
Lissencephaly
Malformations of cortical development
Malformations of Cortical Development - diagnostic imaging
Malformations of Cortical Development - genetics
Malformations of Cortical Development - pathology
Mutation
Neuroimaging
Polymicrogyria
Tubulin - genetics
Tubulin gene mutations
Tubulinopathies
Title Tubulin genes and malformations of cortical development
URI https://www.clinicalkey.com/#!/content/1-s2.0-S1769721217307255
https://dx.doi.org/10.1016/j.ejmg.2018.07.012
https://www.ncbi.nlm.nih.gov/pubmed/30016746
https://www.proquest.com/docview/2071572067
Volume 61
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