TPH1

Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase), also known as TPH1, is a human gene.cite web | title = Entrez Gene: TPH1 tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7166| accessdate = ]

PBB_Summary
section_title =
summary_text = Tryptophan hydroxylase (TPH; EC 1.14.16.4) catalyzes the biopterin-dependent monooxygenation of tryptophan to 5-hydroxytryptophan (5HT), which is subsequently decarboxylated to form the neurotransmitter serotonin. It is thus the rate-limiting enzyme in the biosynthesis of serotonin. TPH expression is limited to a few specialized tissues: raphe neurons, pinealocytes, mast cells, mononuclear leukocytes, beta-cells of the islets of Langerhans, and intestinal and pancreatic enterochromaffin cells. [supplied by OMIM] cite web | title = Entrez Gene: TPH1 tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7166| accessdate = ]

As tryptophan hydroxylase is important for the brain the effect of variations in the TPH1 gene on brain-related variables, such as personality traits and neuropsychiatric disorders, has been studied. For example, one study found an association between a polymorphism in the gene with impulsive-aggression measures, [Cite journal
author = Antonia S. New, Joel Gelernter, Yoram Yovell, Robert L. Trestman, David A. Nielsen, Jeremy Silverman, Vivian Mitropoulou, Larry J. Siever
title = Tryptophan hydroxylase genotype is associated with impulsive-aggression measures: a preliminary study
journal =
volume = 81
issue = 1
pages = 13–17
year = 1998
doi = 10.1002/(SICI)1096-8628(19980207)81:1<13::AID-AJMG3>3.0.CO;2-O] while a case-control study could find no association between polymorphisms and Alzheimer's Disease. [Cite journal
author = Y. C Wang, S. J. Tsai, T. Y. Liu, H. C. Liu, C. J. Hong
title = No association between tryptophan hydroxylase gene polymorphism and Alzheimer's disease
journal = Neuropsychobiology
year = 2001
month = January
volume = 43
issue = 1
pages = 1&ndash;4
pmid = 11150890]

ee also

* Tryptophan hydroxylase
* Rs1799913 (A779C)
* rs1800532 (A218C)

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Li D, He L |title=Further clarification of the contribution of the tryptophan hydroxylase (TPH) gene to suicidal behavior using systematic allelic and genotypic meta-analyses. |journal=Hum. Genet. |volume=119 |issue= 3 |pages= 233–40 |year= 2007 |pmid= 16450114 |doi= 10.1007/s00439-005-0113-x
*cite journal | author=Nielsen DA, Dean M, Goldman D |title=Genetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphism. |journal=Am. J. Hum. Genet. |volume=51 |issue= 6 |pages= 1366–71 |year= 1993 |pmid= 1463016 |doi=
*cite journal | author=Craig SP, Boularand S, Darmon MC, "et al." |title=Localization of human tryptophan hydroxylase (TPH) to chromosome 11p15.3----p14 by in situ hybridization. |journal=Cytogenet. Cell Genet. |volume=56 |issue= 3-4 |pages= 157–9 |year= 1991 |pmid= 2055111 |doi=
*cite journal | author=Boularand S, Darmon MC, Ganem Y, "et al." |title=Complete coding sequence of human tryptophan hydroxylase. |journal=Nucleic Acids Res. |volume=18 |issue= 14 |pages= 4257 |year= 1990 |pmid= 2377472 |doi=
*cite journal | author=Ledley FD, Grenett HE, Bartos DP, "et al." |title=Assignment of human tryptophan hydroxylase locus to chromosome 11: gene duplication and translocation in evolution of aromatic amino acid hydroxylases. |journal=Somat. Cell Mol. Genet. |volume=13 |issue= 5 |pages= 575–80 |year= 1987 |pmid= 2889273 |doi=
*cite journal | author=Ichimura T, Uchiyama J, Kunihiro O, "et al." |title=Identification of the site of interaction of the 14-3-3 protein with phosphorylated tryptophan hydroxylase. |journal=J. Biol. Chem. |volume=270 |issue= 48 |pages= 28515–8 |year= 1996 |pmid= 7499362 |doi=
*cite journal | author=Tipper JP, Citron BA, Ribeiro P, Kaufman S |title=Cloning and expression of rabbit and human brain tryptophan hydroxylase cDNA in Escherichia coli. |journal=Arch. Biochem. Biophys. |volume=315 |issue= 2 |pages= 445–53 |year= 1995 |pmid= 7986090 |doi= 10.1006/abbi.1994.1523
*cite journal | author=Furukawa Y, Ikuta N, Omata S, "et al." |title=Demonstration of the phosphorylation-dependent interaction of tryptophan hydroxylase with the 14-3-3 protein. |journal=Biochem. Biophys. Res. Commun. |volume=194 |issue= 1 |pages= 144–9 |year= 1993 |pmid= 8101440 |doi= 10.1006/bbrc.1993.1796
*cite journal | author=Kuhn DM, Arthur R, States JC |title=Phosphorylation and activation of brain tryptophan hydroxylase: identification of serine-58 as a substrate site for protein kinase A. |journal=J. Neurochem. |volume=68 |issue= 5 |pages= 2220–3 |year= 1997 |pmid= 9109552 |doi=
*cite journal | author=Wang GA, Coon SL, Kaufman S |title=Alternative splicing at the 3'-cDNA of human tryptophan hydroxylase. |journal=J. Neurochem. |volume=71 |issue= 4 |pages= 1769–72 |year= 1998 |pmid= 9751214 |doi=
*cite journal | author=Austin MC, O'Donnell SM |title=Regional distribution and cellular expression of tryptophan hydroxylase messenger RNA in postmortem human brainstem and pineal gland. |journal=J. Neurochem. |volume=72 |issue= 5 |pages= 2065–73 |year= 1999 |pmid= 10217286 |doi=
*cite journal | author=Yu PL, Fujimura M, Okumiya K, "et al." |title=Immunohistochemical localization of tryptophan hydroxylase in the human and rat gastrointestinal tracts. |journal=J. Comp. Neurol. |volume=411 |issue= 4 |pages= 654–65 |year= 1999 |pmid= 10421874 |doi=
*cite journal | author=Kowlessur D, Kaufman S |title=Cloning and expression of recombinant human pineal tryptophan hydroxylase in Escherichia coli: purification and characterization of the cloned enzyme. |journal=Biochim. Biophys. Acta |volume=1434 |issue= 2 |pages= 317–30 |year= 1999 |pmid= 10525150 |doi=
*cite journal | author=McKinney J, Teigen K, Frøystein NA, "et al." |title=Conformation of the substrate and pterin cofactor bound to human tryptophan hydroxylase. Important role of Phe313 in substrate specificity. |journal=Biochemistry |volume=40 |issue= 51 |pages= 15591–601 |year= 2002 |pmid= 11747434 |doi=
*cite journal | author=Serretti A, Cristina S, Lilli R, "et al." |title=Family-based association study of 5-HTTLPR, TPH, MAO-A, and DRD4 polymorphisms in mood disorders. |journal=Am. J. Med. Genet. |volume=114 |issue= 4 |pages= 361–9 |year= 2002 |pmid= 11992558 |doi= 10.1002/ajmg.10356
*cite journal | author=Slominski A, Pisarchik A, Semak I, "et al." |title=Serotoninergic and melatoninergic systems are fully expressed in human skin. |journal=FASEB J. |volume=16 |issue= 8 |pages= 896–8 |year= 2002 |pmid= 12039872 |doi= 10.1096/fj.01-0952fje
*cite journal | author=Yohrling IV GJ, Jiang GC, DeJohn MM, "et al." |title=Inhibition of tryptophan hydroxylase activity and decreased 5-HT1A receptor binding in a mouse model of Huntington's disease. |journal=J. Neurochem. |volume=82 |issue= 6 |pages= 1416–23 |year= 2002 |pmid= 12354289 |doi=
*cite journal | author=Wang L, Erlandsen H, Haavik J, "et al." |title=Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. |journal=Biochemistry |volume=41 |issue= 42 |pages= 12569–74 |year= 2002 |pmid= 12379098 |doi=
*cite journal | author=Slominski A, Pisarchik A, Semak I, "et al." |title=Serotoninergic system in hamster skin. |journal=J. Invest. Dermatol. |volume=119 |issue= 4 |pages= 934–42 |year= 2002 |pmid= 12406341 |doi= 10.1046/j.1523-1747.2002.00156.x
*cite journal | author=Ono H, Shirakawa O, Kitamura N, "et al." |title=Tryptophan hydroxylase immunoreactivity is altered by the genetic variation in postmortem brain samples of both suicide victims and controls. |journal=Mol. Psychiatry |volume=7 |issue= 10 |pages= 1127–32 |year= 2003 |pmid= 12476329 |doi= 10.1038/sj.mp.4001150

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