Proline oxidase
Proline dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the PRODH gene.[1][2][3]
The protein encoded by this gene is a mitochondrial proline dehydrogenase which catalyzes the first step in proline catabolism. Deletion of this gene has been associated with type I hyperprolinemia. The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes: DiGeorge syndrome and CATCH22 syndrome.[3]
References
- ↑ Campbell HD, Webb GC, Young IG (Dec 1997). "A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia". Hum Genet 101 (1): 69–74. doi:10.1007/s004390050589. PMID 9385373.
- ↑ Gogos JA, Santha M, Takacs Z, Beck KD, Luine V, Lucas LR, Nadler JV, Karayiorgou M (Apr 1999). "The gene encoding proline dehydrogenase modulates sensorimotor gating in mice". Nat Genet 21 (4): 434–9. doi:10.1038/7777. PMID 10192398.
- ↑ 3.0 3.1 "Entrez Gene: PRODH proline dehydrogenase (oxidase) 1".
Further reading
- Kempf L, Nicodemus KK, Kolachana B et al. (2008). Katsanis, Nicholas, ed. "Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function.". Plos Genetics 4 (11): e1000252. doi:10.1371/journal.pgen.1000252. PMC 2573019. PMID 18989458.
- Polyak K, Xia Y, Zweier JL et al. (1997). "A model for p53-induced apoptosis". Nature 389 (6648): 300–5. doi:10.1038/38525. PMID 9305847.
- Donald SP, Sun XY, Hu CA et al. (2001). "Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species". Cancer Res. 61 (5): 1810–5. PMID 11280728.
- Liu H, Heath SC, Sobin C et al. (2002). "Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 3717–22. doi:10.1073/pnas.042700699. PMC 122590. PMID 11891283.
- Jacquet H, Raux G, Thibaut F et al. (2003). "PRODH mutations and hyperprolinemia in a subset of schizophrenic patients". Hum. Mol. Genet. 11 (19): 2243–9. doi:10.1093/hmg/11.19.2243. PMID 12217952.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Maxwell SA, Rivera A (2003). "Proline oxidase induces apoptosis in tumor cells, and its expression is frequently absent or reduced in renal carcinomas". J. Biol. Chem. 278 (11): 9784–9. doi:10.1074/jbc.M210012200. PMID 12514185.
- Jacquet H, Berthelot J, Bonnemains C et al. (2003). "The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene". Journal of Medical Genetics 40 (1): e7. doi:10.1136/jmg.40.1.e7. PMC 1735267. PMID 12525555.
- Williams HJ, Williams N, Spurlock G et al. (2004). "Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia". American Journal of Medical Genetics 120 (1): 42–6. doi:10.1002/ajmg.b.20049. PMID 12815738.
- Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Li T, Ma X, Sham PC et al. (2005). "Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population". American Journal of Medical Genetics 129 (1): 13–5. doi:10.1002/ajmg.b.30049. PMID 15274030.
- Zhang M, White TA, Schuermann JP et al. (2004). "Structures of the Escherichia coli PutA proline dehydrogenase domain in complex with competitive inhibitors". Biochemistry 43 (39): 12539–48. doi:10.1021/bi048737e. PMID 15449943.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Jacquet H, Demily C, Houy E et al. (2005). "Hyperprolinemia is a risk factor for schizoaffective disorder". Mol. Psychiatry 10 (5): 479–85. doi:10.1038/sj.mp.4001597. PMID 15494707.
- Bender HU, Almashanu S, Steel G et al. (2005). "Functional consequences of PRODH missense mutations". American Journal of Human Genetics 76 (3): 409–20. doi:10.1086/428142. PMC 1196393. PMID 15662599.
- Rivera A, Maxwell SA (2005). "The p53-induced gene-6 (proline oxidase) mediates apoptosis through a calcineurin-dependent pathway". J. Biol. Chem. 280 (32): 29346–54. doi:10.1074/jbc.M504852200. PMID 15914462.
- Pandhare J, Cooper SK, Phang JM (2006). "Proline oxidase, a proapoptotic gene, is induced by troglitazone: evidence for both peroxisome proliferator-activated receptor gamma-dependent and -independent mechanisms". J. Biol. Chem. 281 (4): 2044–52. doi:10.1074/jbc.M507867200. PMID 16303758.
- Liu Y, Borchert GL, Surazynski A et al. (2006). "Proline oxidase activates both intrinsic and extrinsic pathways for apoptosis: the role of ROS/superoxides, NFAT and MEK/ERK signaling". Oncogene 25 (41): 5640–7. doi:10.1038/sj.onc.1209564. PMID 16619034.
- Li D, He L (2006). "Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia: a meta-analysis". European Journal of Human Genetics 14 (10): 1130–5. doi:10.1038/sj.ejhg.5201680. PMID 16791139.
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