Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1672-1678

  Chen, Dong Hui ^a   Naydenov, Alipi ^b   Blankman, Jacqueline L ^c,g   Mefford, Heather C ^b   Davis, Marie ^a   Sul, Youngmee ^a   Barloon, A Samuel ^d   Bonkowski, Emily ^a   Wolff, John ^a   Matsushita, Mark ^a   Smith, Corrine ^a   Cravatt, Benjamin F ^c   Mackie, Ken ^e   Raskind, Wendy H ^a,f   Stella, Nephi ^b   Bird, Thomas D ^a,f  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d NORTHWEST HOSPITAL   (United States)

^e INDIANA UNIVERSITY   (United States)

^f Veterans Administration Puget Sound Veterans Health Care Center   (United States)

^g Abide Therapeutics   (United States)

Author keywords

ABHD12; Endocannabinoid; GINS1; Hydrolase activity; PHARC; Short stature

Indexed keywords

ABHD12 PROTEIN; HYDROLASE; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CATARACT; COMPARATIVE GENOMIC HYBRIDIZATION; DEGENERATIVE DISEASE; DNA REPLICATION; FEMALE; GENE MUTATION; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; LYMPHOBLASTOID CELL LINE; MUTANT; PATHOGENESIS; POLYNEUROPATHY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SHORT STATURE;

ABHD12; ENDOCANNABINOID; GINS1; HYDROLASE ACTIVITY; PHARC; SHORT STATURE;

ADULT; ATAXIA; CATARACT; FEMALE; GENE EXPRESSION; GENE ORDER; HETEROZYGOTE; HUMANS; MALE; MONOACYLGLYCEROL LIPASES; MUTATION; PEDIGREE; PHENOTYPE; POLYNEUROPATHIES; RETINITIS PIGMENTOSA; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 84887617058     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22437     Document Type: Article

References (24)

1. Amrani N, Ganesan R, Kervestin S, Mangus DA, Ghosh S, Jacobson A. 2004. A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay. Nature 432:112-118.
2. Anczuków O, Ware MD, Buisson M, Zetoune AB, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S. 2008. Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? Hum Mutat 29:65-73.
3. Blankman JL, Long JZ, Trauger SA, Siuzdak G, Cravatt BF. 2013. ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC. Proc Natl Acad Sci USA 110:1500-1505.
4. Blankman JL, Simon GM, Cravatt BF. 2007. A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol. Chem Biol 14:1347-1356.
5. Bhuvanagiri M, Schlitter AM, Hentze MW, Kulozik AE. 2010. NMD: RNA biology meets human genetic medicine. Biochem J. 130:365-77.
6. Boos D, Frigola J, Diffley JF. 2012. Activation of the replicative DNA helicase: breaking up is hard to do. Curr Opin Cell Biol 24:423-430.
7. Chen DH, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, Matsushita M, Raskind W, Bird T. 2010. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology 75:1968-1975.
8. Colton CA. 2013. Microglial-neuronal interactions during neurodegenerative diseases. J Neuroimmune Pharmacol 8:4-6.
9. Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ. 2012. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis 7:59.
10. Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, et al. 2010. Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism. Am J Hum Genet 87:410-417.
11. Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. 2009. A novel Refsum-like disorder that maps to chromosome 20. Neurology 72:20-27.
12. Hentze MW, Kulozik AE. 1999. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96:307-310.
13. Hoover HS, Blankman JL, Niessen S, Cravatt BF. 2008. Selectivity of inhibitors of endocannabinoid biosynthesis evaluated by activity-based protein profiling. Bioorg Med Chem Lett 18:5838-5841.
14. Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, et al. 2006. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94.
15. Marrs WR, Blankman JL, Horne EA, Thomazeau A, Lin YH, Coy J, Bodor AL, Muccioli GG, Hu SS, Woodruff G, Fung S, Lafourcade M, et al. 2010. The serine hydrolase ABHD6 controls the accumulation and efficacy of 2-AG at cannabinoid receptors. Nat Neurosci 13:951-957.
16. Nagahama Y, Ueno M, Miyamoto S, Morii E, Minami T, Mochizuki N, Saya H, Takakura N. 2010. PSF1, a DNA replication factor expressed widely in stem and progenitor cells, drives tumorigenic and metastatic properties. Cancer Res 70:1214-1224.
17. Navia-Paldanius D, Savinainen JR, Laitinen JT. 2012. Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). J Lipid Res 53:2413-2424.
18. Nomura DK, Morrison BE, Blankman JL, Long JZ, Kinsey SG, Marcondes MC, Ward AM, Hahn YK, Lichtman AH, Conti B, Cravatt BF. 2011. Endocannabinoid hydrolysis generates brain prostaglandins that promote neuroinflammation. Science 334:809-813.
19. Onesti S, Macneill SA. 2013. Structure and evolutionary origins of the CMG complex. Chromosoma 122:47-53.
20. Patricelli MP, Giang DK, Stamp LM, Burbaum JJ. 2001. Direct visualization of serine hydrolase activities in complex proteomes using fluorescent active site-directed probes. Proteomics 1:1067-1071.
21. Ryu B, Kim DS, Deluca AM, Alani RM. 2007. Comprehensive expression profiling of tumor cell lines identifies molecular signatures of melanoma progression. PLoS One 2:e594.
22. Simon GM, Cravatt BF. 2010. Activity-based proteomics of enzyme superfamilies: serine hydrolases as a case study. J Biol Chem 285:11051-11055.
23. Singh G, Rebbapragada I, Lykke-Andersen J. 2008. A competition between stimulatorsand antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay. PLoS Biol 6:e111.
24. Stella N. 2009. Endocannabinoid signaling in microglial cells. Neuropharmacology 56 Suppl 1:244-253.