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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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Regulation of Expression at Multiple Steps01:23

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The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
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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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Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary

Jonas Carlsson Almlöf1, Per Lundmark1, Anders Lundmark1

  • 1Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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Researchers identified cis-regulatory single nucleotide polymorphisms (SNPs) that control long non-coding RNA expression in monocytes. These SNPs link to immune system diseases, offering new insights into genetic regulation.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Immunology

Background:

  • Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation.
  • Understanding genetic variants that influence lncRNA expression is vital for disease research.

Purpose of the Study:

  • To identify cis-acting genetic variations regulating lncRNA expression in human monocytes.
  • To investigate the association of these regulatory variants with human diseases.

Main Methods:

  • Genome-wide allele-specific expression analysis of 188 monocyte samples.
  • Analysis of 8929 lncRNA gene regions from ENCODE data.
  • Identification of cis-regulatory single nucleotide polymorphisms (SNPs) in intergenic regions.

Main Results:

  • Detected cis-regulatory SNPs in 258 of 489 informative intergenic regions.
  • SNPs associated with lncRNA allele-specific expression were enriched in enhancer regions.
  • 32 identified SNPs overlap with Genome-Wide Association Study loci for immune diseases, including multiple sclerosis and rheumatoid arthritis.

Conclusions:

  • Cis-regulatory SNPs significantly impact lncRNA expression in monocytes.
  • These findings highlight the role of lncRNA regulation in immune system diseases.
  • Identified SNPs provide potential biomarkers and therapeutic targets for immune-related disorders.