Abstract

The growth of expertise in molecular techniques, their application to clinical evaluations, and the establishment of databases with molecular genetic information has led to greater insights into the roles of molecular processes related to gene expression in neurodevelopment and functioning. The goal of this review is to examine new insights into messenger RNA transcription, translation, and cellular protein synthesis and the relevance of genetically determined alterations in these processes in neurodevelopmental, cognitive, and behavioral disorders.

Highlights

  • Reviewed by: Ye Fu, Harvard University, United States Lysangela Ronalte Alves, Carlos Chagas Institute (ICC), Brazil

  • The goal of this review is to examine new insights into messenger RNA transcription, translation, and cellular protein synthesis and the relevance of genetically determined alterations in these processes in neurodevelopmental, cognitive, and behavioral disorders

  • The repeat expansion involved TTTCA and TTTTA repeats. They noted that repeat expansions of TTTTA and TTCA were noted in two different genes TNRC6A and RAPGEF2 in cases of familial myoclonic epilepsy

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Summary

Moyra Smith*

Reviewed by: Ye Fu, Harvard University, United States Lysangela Ronalte Alves, Carlos Chagas Institute (ICC), Brazil. Specialty section: This article was submitted to Molecular Diagnostics and Therapeutics, a section of the journal Frontiers in Molecular Biosciences. The growth of expertise in molecular techniques, their application to clinical evaluations, and the establishment of databases with molecular genetic information has led to greater insights into the roles of molecular processes related to gene expression in neurodevelopment and functioning. The goal of this review is to examine new insights into messenger RNA transcription, translation, and cellular protein synthesis and the relevance of genetically determined alterations in these processes in neurodevelopmental, cognitive, and behavioral disorders

TRIGGERS OF GENE EXPRESSION IN BRAIN NEURONS
RNA Transcription Translation Genetics Defects
Cornelia de Lange syndrome
Topologically Associated Domains
Divergent Transcription Directionality
Transcription regulator family member A
Transcription Factor Defects That Occur in Some Cases of Autism
MRNA SPLICING AND THE SPLICEOSOME
MICROEXONS AND THEIR INCLUSION IN TRANSCRIPTS OF GENES EXPRESSED IN NEURONS
Alternative Splicing in Neurodevelopment
Intronic Variants Leading to Aberrant Splicing
Pathogenic Repeat Sequence Expansions in Introns
RARE VARIANT INTERPRETATIONS IN LIGHT OF TRANSCRIPT EXPRESSION
MRNA DEGRADATION
Control of MRNA Levels and Processing
MRNA Passage From Nucleus to Cytoplasm
Aberrant Translation Initiation
TRANSLATION PROCESSES
DEFECTS IN TRANSLATION INITIATION PROCESSES IN NEURODEVELOPMENTAL DISORDERS
TRANSLATION ELONGATION AND AMINOACYL TRNAs
AMINOACYL tRNA SYNTHETASES
Map position
Ribosome Quality Control
ERRORS IN TRANSLATION
JOINT INTERACTIONS OF REGULATORY AND CODING VARIANTS IN DETERMINING PENETRANCE
Findings
PROTEINS AND PROTEOMICS AND RELEVANCE TO FUNCTIONAL STUDIES OF GENE MUTATIONS

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