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A functional alternative splicing mutation in human tryptophan hydroxylase-2. / Zhang, X; Nicholls, PJ; Laje, G; Sotnikova, TD; Gainetdinov, RR; Albert, PR; Rajkowska, G; Stockmeier, CA; Speer, MC; Steffens, DC; Austin, MC; McMahon, FJ; Krishnan, KR; Garcia-Blanco, MA; Caron, MG.

In: Molecular Psychiatry, 2011.

Research output: Contribution to journal › Article

Harvard

Zhang, X, Nicholls, PJ, Laje, G, Sotnikova, TD, Gainetdinov, RR, Albert, PR, Rajkowska, G, Stockmeier, CA, Speer, MC, Steffens, DC, Austin, MC, McMahon, FJ, Krishnan, KR, Garcia-Blanco, MA & Caron, MG 2011, 'A functional alternative splicing mutation in human tryptophan hydroxylase-2.', Molecular Psychiatry.

APA

Zhang, X., Nicholls, PJ., Laje, G., Sotnikova, TD., Gainetdinov, RR., Albert, PR., Rajkowska, G., Stockmeier, CA., Speer, MC., Steffens, DC., Austin, MC., McMahon, FJ., Krishnan, KR., Garcia-Blanco, MA., & Caron, MG. (2011). A functional alternative splicing mutation in human tryptophan hydroxylase-2. Molecular Psychiatry.

Vancouver

Zhang X, Nicholls PJ, Laje G, Sotnikova TD, Gainetdinov RR, Albert PR et al. A functional alternative splicing mutation in human tryptophan hydroxylase-2. Molecular Psychiatry. 2011.

Author

Zhang, X ; Nicholls, PJ ; Laje, G ; Sotnikova, TD ; Gainetdinov, RR ; Albert, PR ; Rajkowska, G ; Stockmeier, CA ; Speer, MC ; Steffens, DC ; Austin, MC ; McMahon, FJ ; Krishnan, KR ; Garcia-Blanco, MA ; Caron, MG. / A functional alternative splicing mutation in human tryptophan hydroxylase-2. In: Molecular Psychiatry. 2011.

BibTeX

@article{8a9b6515486243349e6cb2c0f113f9e0,
title = "A functional alternative splicing mutation in human tryptophan hydroxylase-2.",
abstract = "The brain serotonergic system has an essential role in the physiological functions of the central nervous system and dysregulation of serotonin (5-HT) homeostasis has been implicated in many neuropsychiatric disorders. The tryptophan hydroxylase-2 (TPH2) gene is the rate-limiting enzyme in brain 5-HT synthesis, and thus is an ideal candidate gene for understanding the role of dysregulation of brain serotonergic homeostasis. Here, we characterized a common, but functional single-nucleotide polymorphism (SNP rs1386493) in the TPH2 gene, which decreases efficiency of normal RNA splicing, resulting in a truncated TPH2 protein (TPH2-TR) by alternative splicing. TPH2-TR, which lacks TPH2 enzyme activity, dominant-negatively affects full-length TPH2 function, causing reduced 5-HT production. The predicted mRNA for TPH2-TR is present in postmortem brain of rs1386493 carriers. The rs13864923 variant does not appear to be overrepresented in either global or multiplex depression cohorts. However, in combination with oth",
author = "X Zhang and PJ Nicholls and G Laje and TD Sotnikova and RR Gainetdinov and PR Albert and G Rajkowska and CA Stockmeier and MC Speer and DC Steffens and MC Austin and FJ McMahon and KR Krishnan and MA Garcia-Blanco and MG. Caron",
year = "2011",
language = "не определен",
journal = "Molecular Psychiatry",
issn = "1359-4184",
publisher = "Nature Publishing Group",

}

RIS

TY - JOUR

T1 - A functional alternative splicing mutation in human tryptophan hydroxylase-2.

AU - Zhang, X

AU - Nicholls, PJ

AU - Laje, G

AU - Sotnikova, TD

AU - Gainetdinov, RR

AU - Albert, PR

AU - Rajkowska, G

AU - Stockmeier, CA

AU - Speer, MC

AU - Steffens, DC

AU - Austin, MC

AU - McMahon, FJ

AU - Krishnan, KR

AU - Garcia-Blanco, MA

AU - Caron, MG.

PY - 2011

Y1 - 2011

N2 - The brain serotonergic system has an essential role in the physiological functions of the central nervous system and dysregulation of serotonin (5-HT) homeostasis has been implicated in many neuropsychiatric disorders. The tryptophan hydroxylase-2 (TPH2) gene is the rate-limiting enzyme in brain 5-HT synthesis, and thus is an ideal candidate gene for understanding the role of dysregulation of brain serotonergic homeostasis. Here, we characterized a common, but functional single-nucleotide polymorphism (SNP rs1386493) in the TPH2 gene, which decreases efficiency of normal RNA splicing, resulting in a truncated TPH2 protein (TPH2-TR) by alternative splicing. TPH2-TR, which lacks TPH2 enzyme activity, dominant-negatively affects full-length TPH2 function, causing reduced 5-HT production. The predicted mRNA for TPH2-TR is present in postmortem brain of rs1386493 carriers. The rs13864923 variant does not appear to be overrepresented in either global or multiplex depression cohorts. However, in combination with oth

AB - The brain serotonergic system has an essential role in the physiological functions of the central nervous system and dysregulation of serotonin (5-HT) homeostasis has been implicated in many neuropsychiatric disorders. The tryptophan hydroxylase-2 (TPH2) gene is the rate-limiting enzyme in brain 5-HT synthesis, and thus is an ideal candidate gene for understanding the role of dysregulation of brain serotonergic homeostasis. Here, we characterized a common, but functional single-nucleotide polymorphism (SNP rs1386493) in the TPH2 gene, which decreases efficiency of normal RNA splicing, resulting in a truncated TPH2 protein (TPH2-TR) by alternative splicing. TPH2-TR, which lacks TPH2 enzyme activity, dominant-negatively affects full-length TPH2 function, causing reduced 5-HT production. The predicted mRNA for TPH2-TR is present in postmortem brain of rs1386493 carriers. The rs13864923 variant does not appear to be overrepresented in either global or multiplex depression cohorts. However, in combination with oth

M3 - статья

JO - Molecular Psychiatry

JF - Molecular Psychiatry

SN - 1359-4184

ER -

ID: 5573770