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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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A functional alternative splicing mutation in human tryptophan hydroxylase-2.

X Zhang1, P J Nicholls, G Laje

  • 1Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA. xiaodong.zhang@duke-nus.edu.sg

Molecular Psychiatry
|September 22, 2010
PubMed
Summary

A common TPH2 gene variant (rs1386493) creates a non-functional protein, reducing brain serotonin (5-HT) production. This finding offers new insights into serotonergic system dysregulation in neuropsychiatric disorders.

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PCR Mutagenesis, Cloning, Expression, Fast Protein Purification Protocols and Crystallization of the Wild Type and Mutant Forms of Tryptophan Synthase
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • The brain's serotonergic system is crucial for central nervous system function.
  • Dysregulation of serotonin (5-HT) homeostasis is linked to neuropsychiatric disorders.
  • The tryptophan hydroxylase-2 (TPH2) gene regulates brain 5-HT synthesis.

Purpose of the Study:

  • To characterize a common, functional single-nucleotide polymorphism (SNP rs1386493) in the TPH2 gene.
  • To investigate the impact of this SNP on TPH2 function and brain 5-HT production.

Main Methods:

  • Analysis of the TPH2 gene and its common SNP rs1386493.
  • Investigation of RNA splicing and protein function.
  • Detection of TPH2-TR mRNA in postmortem brain tissue.

Main Results:

  • SNP rs1386493 leads to alternative splicing, producing a truncated, non-functional TPH2 protein (TPH2-TR).
  • TPH2-TR negatively affects full-length TPH2, reducing 5-HT production.
  • TPH2-TR mRNA is present in postmortem brains of rs1386493 carriers.

Conclusions:

  • The TPH2 rs1386493 variant impairs brain 5-HT synthesis through dominant-negative effects.
  • While not directly linked to depression cohorts, this variant may have epistatic effects with other genes influencing 5-HT homeostasis.