Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

Mammalian Genome

Volumn 21, Issue 9-10, 2010, Pages 458-466

  Bothwell, Susan P ^a   Farber, Leslie W ^b,c   Hoagland, Adam ^a   Nussbaum, Robert L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN INPP5B; PROTEIN OCRL; SYNAPTOJANIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN TISSUE; COMPUTER ANALYSIS; CONTROLLED STUDY; ENZYME DEFICIENCY; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GENOME ANALYSIS; HUMAN VERSUS ANIMAL COMPARISON; KIDNEY PARENCHYMA; LOSS OF FUNCTION MUTATION; LOWE SYNDROME; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PARALOGY; POLYMERASE CHAIN REACTION; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; SPECIES DIFFERENCE;

AMINO ACID SEQUENCE; ANIMALS; BLOTTING, NORTHERN; DISEASE MODELS, ANIMAL; GENE EXPRESSION; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; PROMOTER REGIONS, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA SPLICING; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SPECIES SPECIFICITY; TRANSCRIPTION, GENETIC;

MUS;

EID: 78249252071     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-010-9281-7     Document Type: Article

References (32)

1. O Attree IM Olivos I Okabe LC Bailey DL Nelson, et al. 1992 The Lowe oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate-5-phosphatase Nature 358 239 242 1:CAS:528: DyaK3sXisFaltrc%3D 10.1038/358239a0 1321346
2. -/- mice Mamm Genome 21 186 194 10.1007/s00335-010-9255-9 20195868
3. D Bockenhauer A Bokenkamp W van't Hoff E Levtchenko JE van Kist-Holthe, et al. 2008 Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction Clin J Am Soc Nephrol 3 1430 1436 10.2215/CJN.00520108 18480301
4. M Burset IA Seledtsov VV Solovyev 2001 SpliceDB: database of canonical and non-canonical mammalian splice sites Nucleic Acids Res 29 255 259 1:CAS:528:DC%2BD3MXjtlWmt7w%3D 10.1093/nar/29.1.255 11125105
5. L Cartegni SL Chew AR Krainer 2002 Listening to silence and understanding nonsense: exonic mutations that affect splicing Nat Rev Genet 3 285 298 1:CAS:528:DC%2BD38XjtFOrtrc%3D 10.1038/nrg775 11967553 (Pubitemid 34279797)
6. L Charnas I Bernardini D Rader J Hoeg WA Gahl 1991 Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function N Engl J Med 324 1318 1325 1:CAS:528:DyaK3MXlsFKnt7Y%3D 10.1056/NEJM199105093241904 2017228
7. R Choudhury A Diao F Zhang E Eisenberg A Saint-Pol, et al. 2005 Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network Mol Biol Cell 16 3467 3479 1:CAS:528:DC%2BD2MXosVCgurg%3D 10.1091/mbc.E05-02-0120 15917292 (Pubitemid 41077061)
8. R Choudhury CJ Noakes E McKenzie C Kox M Lowe 2009 Differential clathrin binding and subcellular localization of OCRL1 splice isoforms J Biol Chem 284 9965 9973 1:CAS:528:DC%2BD1MXjvFKrsLY%3D 10.1074/jbc.M807442200 19211563
9. BG Coon D Mukherjee CB Hanna DJ Riese 2nd M Lowe, et al. 2009 Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase Hum Mol Genet 18 4478 4491 1:CAS:528:DC%2BD1MXhtlygs7jI 10.1093/hmg/ddp407 19700499
10. KS Erdmann Y Mao HJ McCrea R Zoncu S Lee, et al. 2007 A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway Dev Cell 13 377 390 1:CAS:528:DC%2BD2sXhtVels73O 10.1016/j.devcel.2007.08.004 17765681 (Pubitemid 47321603)
11. A Faucherre P Desbois V Satre J Lunardi O Dorseuil, et al. 2003 Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network Hum Mol Genet 12 2449 2456 1:CAS:528:DC%2BD3sXnsVektrc%3D 10.1093/hmg/ddg250 12915445 (Pubitemid 37220409)
12. PA Janne SF Suchy DJ Bernard M McDonald J Crawley, et al. 1998 Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice J Clin Invest 101 2042 2053 1:CAS:528:DyaK1cXjt1eksbY%3D 10.1172/JCI2414 9593760
13. L Kenworthy L Charnas 1995 Evidence for a discrete behavioral phenotype in the Oculocerebrorenal Syndrome of Lowe Am J Med Genet 59 283 290 1:STN:280:DyaK287mt1ejuw%3D%3D 10.1002/ajmg.1320590304 8599350
14. L Kenworthy T Park LR Charnas 1993 Cognitive and behavioral profile of the Oculocerebrorenal Syndrome of Lowe Am J Med Genet 46 297 303 1:STN:280:DyaK3s3ls1WisQ%3D%3D 10.1002/ajmg.1320460312 8488875
15. AM Leahey LR Charnas RL Nussbaum 1993 Nonsense mutations in the OCRL-1 gene in patients with the Oculocerebrorenal Syndrome of Lowe Hum Mol Genet 4 461 463 10.1093/hmg/2.4.461
16. U Lichter-Konecki LW Farber JS Cronin SF Suchy RL Nussbaum 2006 The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function Mol Genet Metab 89 121 128 1:CAS:528:DC%2BD28XotlCjsrY%3D 10.1016/j.ymgme.2006.04. 005 16777452 (Pubitemid 44205468)
17. T Lin BM Orrison SF Suchy RA Lewis RL Nussbaum 1998 Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe Syndrome patients Mol Genet Metab 64 58 61 1:CAS:528:DyaK1cXkvVKms7o%3D 10.1006/mgme.1998.2687 9682219 (Pubitemid 28453319)
18. Y Mao DM Balkin R Zoncu KS Erdmann L Tomasini, et al. 2009 A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism EMBO J 28 1831 1842 1:CAS:528:DC%2BD1MXnsVags7o%3D 10.1038/emboj.2009.155 19536138
19. M Matzaris CJ O'Malley A Badger CJ Speed PI Bird, et al. 1998 Distinct membrane and cytosolic forms of inositol polyphosphate 5-phosphatase II J Biol Chem 273 8256 8267 1:CAS:528:DyaK1cXitlOitrs%3D 10.1074/jbc.273.14.8256 9525932 (Pubitemid 28168883)
20. HJ McCrea S Paradise L Tomasini M Addis MA Melis, et al. 2008 All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding Biochem Biophys Res Commun 369 493 499 1:CAS:528:DC%2BD1cXjs12gtbo%3D 10.1016/j.bbrc.2008.02.067 18307981
21. N Monnier V Satre E Lerouge F Berthoin J Lunardi 2000 OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling Hum Mutat 16 157 165 1:CAS:528: DC%2BD3cXlvFKgtL8%3D 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0. CO;2-9 10923037
22. IM Olivos-Glander PA Janne RL Nussbaum 1995 The Oculocerebrorenal Syndrome gene product is a 105-kDa protein localized to the Golgi complex Am J Hum Genet 57 817 823 1:CAS:528:DyaK2MXovF2ls7w%3D 7573041
23. CP Ponting 2006 A novel domain suggests a ciliary function for ASPM, a brain size determining gene Bioinformatics 22 1031 1035 1:CAS:528: DC%2BD28XjslKrsb0%3D 10.1093/bioinformatics/btl022 16443634
24. DS Prestridge 1995 Predicting Pol II promoter sequences using transcription factor binding sites J Mol Biol 249 923 932 1:CAS:528: DyaK2MXms1Cmtrk%3D 10.1006/jmbi.1995.0349 7791218
25. AC Schmid HM Wise CA Mitchell R Nussbaum R Woscholski 2004 Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation FEBS Lett 576 9 13 1:CAS:528:DC%2BD2cXot12itb8%3D 10.1016/j.febslet.2004.08.052 15474001 (Pubitemid 39330448)
26. MB Shapiro P Senapathy 1987 RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression Nucleic Acids Res 15 7155 7174 1:CAS:528:DyaL2sXls12qtLo%3D 10.1093/nar/15.17. 7155 3658675
27. S Sotiriou G Gibney AD Baxevanis RL Nussbaum 2009 A single nucleotide polymorphism in the 3′UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease Neurosci Lett 461 196 201 1:CAS:528:DC%2BD1MXosVehtrk%3D 10.1016/j.neulet.2009.06.034 19540308
28. Suchy SF, Nussbaum RL (2009) Oculocerebrorenal Syndrome of Lowe. In: Valle D, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A (eds) The online metabolic and molecular bases of inherited disease. MacMillan, New York
29. SF Suchy IM Olivos-Glander RL Nussbaum 1995 Lowe Syndrome, a deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus Hum Mol Genet 4 2245 2250 1:CAS:528:DyaK2MXpvFertbo%3D 10.1093/hmg/4.12.2245 8634694
30. LE Swan L Tomasini M Pirruccello J Lunardi P De Camilli 2010 Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1 Proc Natl Acad Sci USA 107 3511 3516 1:CAS:528:DC%2BC3cXjtFymu70%3D 10.1073/pnas.0914658107 20133602
31. C Williams R Choudhury E McKenzie M Lowe 2007 Targeting of the type II inositol polyphosphate 5-phosphatase INPP5B to the early secretory pathway J Cell Sci 120 3941 3951 1:CAS:528:DC%2BD2sXhsVOru7zM 10.1242/jcs.014423 17956944 (Pubitemid 350269400)
32. X Zhang AB Jefferson V Auethavekiat PW Majerus 1995 The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase Proc Natl Acad Sci USA 92 4853 4856 1:CAS:528:DyaK2MXlvFyisL8%3D 10.1073/pnas.92.11. 4853 7761412