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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

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 (lncRNA)...
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Translation01:31

Translation

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Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

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Human disease-associated genetic variation impacts large intergenic non-coding RNA expression.

Vinod Kumar1, Harm-Jan Westra, Juha Karjalainen

  • 1Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Plos Genetics
|January 24, 2013
PubMed
Summary

Most disease-associated genetic variations impact non-coding RNAs, not protein-coding genes. This study reveals how single nucleotide polymorphisms (SNPs) regulate large intergenic non-coding RNAs (lincRNAs) expression, with implications for complex traits and diseases.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Genetics

Background:

  • Most disease-associated single nucleotide polymorphisms (SNPs) occur in non-coding regions (93%), highlighting their regulatory roles.
  • Understanding genetic variation's impact on non-coding RNA expression is crucial, especially given tissue-specific effects.

Purpose of the Study:

  • To investigate the association between SNPs and expression quantitative trait loci (eQTLs) for large intergenic non-coding RNAs (lincRNAs).
  • To determine if genetic variations influencing lincRNA expression also affect neighboring protein-coding genes.
  • To assess the tissue-specificity of these genotype-lincRNA expression correlations and their links to complex diseases.

Main Methods:

  • Utilized genome-wide gene expression and genotype data from five distinct human tissues.
  • Performed association analysis to identify cis-eQTLs for lincRNAs.
  • Validated findings in an independent dataset and analyzed overlap with protein-coding gene expression and disease associations.

Main Results:

  • Identified 112 cis-regulated lincRNAs, with 45% successfully replicated in an independent dataset.
  • Found that 75% of identified lincRNA cis-eQTL SNPs uniquely affected lincRNA expression, not neighboring protein-coding genes.
  • Demonstrated that genotype-lincRNA expression correlations are tissue-dependent and many associated SNPs are linked to complex traits and diseases.

Conclusions:

  • Genetic variations significantly regulate lincRNA expression in a tissue-specific manner.
  • SNPs affecting lincRNAs represent a substantial mechanism linking non-coding genetic variation to complex traits and diseases.
  • This work emphasizes the importance of studying non-coding RNAs in understanding the genetic basis of human diseases.