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Alternative RNA Splicing02:18

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Manuel A Rivas1,2, Daniel Graham1, Patrick Sulem3

  • 1Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

Nature Communications
|August 10, 2016
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Summary
This summary is machine-generated.

Protein-truncating variants in RNF186 protect against ulcerative colitis. This discovery validates RNF186 as a potential therapeutic target for inflammatory bowel disease, offering new avenues for treatment.

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Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Protein-truncating variants (PTVs) can offer protection against human diseases, serving as valuable therapeutic targets.
  • Inflammatory bowel disease (IBD) has known genetic associations, providing a basis for searching for protective variants.

Purpose of the Study:

  • To identify PTVs conferring protection against inflammatory bowel disease (IBD).
  • To validate RNF186 as a potential therapeutic target for ulcerative colitis (UC).

Main Methods:

  • Targeted sequencing was employed to identify PTVs.
  • Replication genotyping and imputation were used for variant analysis.
  • Functional studies assessed the truncated protein's expression and localization.

Main Results:

  • A PTV in RNF186 (rs36095412, p.R179X) was identified, significantly protecting against ulcerative colitis (P=6.89 × 10(-7), OR=0.30).
  • The identified variant was present in up to 0.78% of the population studied (11,148 UC patients, 295,446 controls).
  • The truncated RNF186 protein showed reduced expression and altered subcellular localization.

Conclusions:

  • RNF186 PTVs confer protection against ulcerative colitis.
  • The protective mechanism may involve loss of function due to altered protein expression, localization, or loss of a transmembrane domain.
  • RNF186 is a validated therapeutic target for ulcerative colitis.