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lncRNA - Long Non-coding RNAs02:39

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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Related Experiment Video

Updated: May 29, 2025

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism
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Transcriptomic Convergence and the Female Protective Effect in Autism.

Rebecca E Andersen1,2,3,4,5, Maya Talukdar1,2,3,4,6,7, Tyler Sakamoto1,2,3,8

  • 1Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.

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|February 3, 2025
PubMed
Summary
This summary is machine-generated.

Genetic variants in autism spectrum disorder (ASD) disrupt gene regulatory networks (GRNs). This study reveals how diverse ASD genes, including lncRNAs, converge on shared neurodevelopmental pathways, offering a new framework for understanding ASD.

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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
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Area of Science:

  • Genetics
  • Neuroscience
  • Bioinformatics

Background:

  • Autism spectrum disorder (ASD) is linked to diverse genetic variants, complicating the identification of core disease mechanisms.
  • Understanding the shared biological pathways affected by these distinct genetic factors is crucial for developing effective interventions.

Purpose of the Study:

  • To aggregate and analyze different classes of genetic variants associated with ASD.
  • To investigate the functional impact of ASD-associated genes and long non-coding RNAs (lncRNAs) on gene expression.
  • To construct a gene regulatory network (GRN) to identify central regulators in ASD.

Main Methods:

  • Creation of the Consensus-ASD database to categorize genetic variants.
  • CRISPR-Cas13 functional interrogation of ASD genes and neighboring lncRNAs.
  • Gene regulatory network (GRN) construction and analysis.

Main Results:

  • Shared features were identified across seven classes of ASD genetic variants.
  • Functional interrogation revealed differential gene expression profiles significantly enriched for other ASD genes.
  • Central regulators with convergently altered activity upon ASD gene disruption were identified within the GRN.

Conclusions:

  • Perturbing distinct ASD-associated genes leads to shared, broad dysregulation of GRNs.
  • This provides a framework for understanding how diverse genes, including lncRNAs, contribute to ASD through convergent roles in neurodevelopment.
  • The findings highlight the importance of network-level analysis for deciphering ASD pathogenesis.