The batten disease palmitoyl protein thioesterase 1 gene regulates neural specification and axon connectivity during drosophila embryonic development

PLoS ONE

Volumn 5, Issue 12, 2010, Pages

  Chu Lagraff, Quynh ^a   Blanchette, Cassandra ^a   O'Hern, Patrick ^a   Denefrio, Cassandra ^a  

^a UNION COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE; PALMITOYL PROTEIN THIOESTERASE 1; UNCLASSIFIED DRUG; PALMITOYL-PROTEIN THIOESTERASE; THIOL ESTER HYDROLASE;

ARTICLE; AUTOFLUORESCENCE; CELL FATE; CELL LINEAGE; CELL SHAPE; CELL SPECIFICITY; CONTROLLED STUDY; DENDRITIC CELL; EMBRYO; EMBRYO DEVELOPMENT; GENE CONTROL; MEDIAL LONGITUDINAL BUNDLE; NERVE CELL DIFFERENTIATION; NERVE CONDUCTION; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN FUNCTION; SENSORY NERVE CELL; VENTRAL ROOT; ANIMAL; BIOLOGICAL MODEL; CENTRAL NERVOUS SYSTEM; DEVELOPMENTAL BIOLOGY; DISEASE MODEL; DROSOPHILA MELANOGASTER; FLUORESCENCE MICROSCOPY; GENE EXPRESSION REGULATION; GENETICS; HUMAN; METABOLISM; METHODOLOGY; MUTATION; NERVE CELL; NERVE FIBER; PRENATAL DEVELOPMENT;

MAMMALIA;

ANIMALS; AXONS; CELL LINEAGE; CENTRAL NERVOUS SYSTEM; DEVELOPMENTAL BIOLOGY; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MICROSCOPY, FLUORESCENCE; MODELS, BIOLOGICAL; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; THIOLESTER HYDROLASES;

EID: 78650970058     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0014402     Document Type: Article

References (34)

1. Cooper JD (2003) Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. Curr Opin Neurol 16: 121-128.
2. Mole S, Gardiner M (1999) Molecular genetics of the neuronal ceroid lipofuscinoses. Epilepsia 40 Suppl 3: 29-32.
3. Camp LA, Hofmann SL (1993) Purification and properties of a palmitoylprotein thioesterase that cleaves palmitate from H-Ras. J Biol Chem 268: 22566-22574.
4. Camp LA, Verkruyse LA, Afendis SJ, Slaughter CA, Hofmann SL (1994) Molecular cloning and expression of palmitoyl-protein thioesterase. J Biol Chem 269: 23212-23219.
5. Isosomppi J, Heinonen O, Hiltunen JO, Greene ND, Vesa J, et al. (1999) Developmental expression of palmitoyl protein thioesterase in normal mice. Brain Res Dev Brain Res 118: 1-11.
6. Suopanki J, Tyynela J, Baumann M, Haltia M (1999) The expression of palmitoyl-protein thioesterase is developmentally regulated in neural tissues but not in nonneural tissues. Mol Genet Metab 66: 290-293.
7. Heinonen O, Kyttala A, Lehmus E, Paunio T, Peltonen L, et al. (2000) Expression of palmitoyl protein thioesterase in neurons. Mol Genet Metab 69: 123-129.
8. Lehtovirta M, Kyttala A, Eskelinen EL, Hess M, Heinonen O, et al. (2001) Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL). Hum Mol Genet 10: 69-75.
9. Ahtiainen L, Van Diggelen OP, Jalanko A, Kopra O (2003) Palmitoyl protein thioesterase 1 is targeted to the axons in neurons. J Comp Neurol 455: 368-377.
10. Jalanko A, Vesa J, Manninen T, von Schantz C, Minye H, et al. (2005) Mice 0with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. Neurobiol Dis 18: 226-241.
11. Glaser RL, Hickey AJ, Chotkowski HL, Chu-LaGraff Q (2003) Characterization of Drosophila palmitoyl-protein thioesterase 1. Gene 312: 271-279.
12. Hickey AJ, Chotkowski HL, Singh N, Ault JG, Korey CA, et al. (2006) Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span. Genetics 172: 2379-2390.
13. Korey CA, MacDonald ME (2003) An over-expression system for characterizing Ppt1 function in Drosophila. BMC Neurosci 4: 30.
14. Buff H, Smith AC, Korey CA (2007) Genetic modifiers of Drosophila palmitoylprotein thioesterase 1-induced degeneration. Genetics 176: 209-220.
15. Chu-LaGraff Q, Doe CQ (1993) Neuroblast specification and formation regulated by wingless in the Drosophila CNS. Science 261: 1594-1597.
16. Broadus J, Doe CQ (1995) Evolution of neuroblast identity: seven-up and prospero expression reveal homologous and divergent neuroblast fates in Drosophila and Schistocerca. Development 121: 3989-3996.
17. Bossing T, Udolph G, Doe CQ, Technau GM (1996) The embryonic central nervous system lineages of Drosophila melanogaster. I. Neuroblast lineages derived from the ventral half of the neuroectoderm. Dev Biol 179: 41-64.
18. Schmidt H, Rickert C, Bossing T, Vef O, Urban J, et al. (1997) The embryonic central nervous system lineages of Drosophila melanogaster. II. Neuroblast lineages derived from the dorsal part of the neuroectoderm. Dev Biol 189: 186-204.
19. Landgraf M, Roy S, Prokop A, VijayRaghavan K, Bate M (1999) Even-skipped determines the dorsal growth of motor axons in Drosophila. Neuron 22: 43-52.
20. Fujioka M, Lear BC, Landgraf M, Yusibova GL, Zhou J, et al. (2003) Evenskipped, acting as a repressor, regulates axonal projections in Drosophila. Development 130: 5385-5400.
21. Udolph G, Prokop A, Bossing T, Technau GM (1993) A common precursor for glia and neurons in the embryonic CNS of Drosophila gives rise to segmentspecific lineage variants. Development 118: 765-775.
22. Seeger M, Tear G, Ferres-Marco D, Goodman CS (1993) Mutations affecting growth cone guidance in Drosophila: genes necessary for guidance toward or away from the midline. Neuron 10: 409-426.
23. Grenningloh G, Bieber AJ, Rehm EJ, Snow PM, Traquina ZR, et al. (1990) Molecular genetics of neuronal recognition in Drosophila: evolution and function of immunoglobulin superfamily cell adhesion molecules. Cold Spring Harb Symp Quant Biol 55: 327-340.
24. Dietzl G, Chen D, Schnorrer F, Su KC, Barinova Y, et al. (2007) A genomewide transgenic RNAi library for conditional gene inactivation in Drosophila. Nature 448: 151-156.
25. Zipursky SL, Venkatesh TR, Benzer S (1985) From monoclonal antibody to gene for a neuron-specific glycoprotein in Drosophila. Proc Natl Acad Sci U S A 82: 1855-1859.
26. Bodmer R, Carretto R, Jan YN (1989) Neurogenesis of the peripheral nervous system in Drosophila embryos: DNA replication patterns and cell lineages. Neuron 3: 21-32.
27. Little EB, Edelman GM, Cunningham BA (1998) Palmitoylation of the cytoplasmic domain of the neural cell adhesion molecule N-CAM serves as an anchor to cellular membranes. Cell Adhes Commun 6: 415-430.
28. Niethammer P, Delling M, Sytnyk V, Dityatev A, Fukami K, et al. (2002) Cosignaling of NCAM via lipid rafts and the FGF receptor is required for neuritogenesis. J Cell Biol 157: 521-532.
29. Goswami R, Ahmed M, Kilkus J, Han T, Dawson SA, et al. (2005) Differential regulation of ceramide in lipid-rich microdomains (rafts): antagonistic role of palmitoyl:protein thioesterase and neutral sphingomyelinase 2. J Neurosci Res 81: 208-217.
30. Kielar C, Wishart TM, Palmer A, Dihanich S, Wong AM, et al. (2009) Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease. Hum Mol Genet 18: 4066-4080.
31. Soyombo AA, Hofmann SL (1997) Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoylprotein thioesterase with a distinct substrate specificity. J Biol Chem 272: 27456-27463.
32. Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, et al. (2001) Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci U S A 98: 13566-13571.
33. Patel NH (1994) Imaging neuronal subsets and other cell types in whole-mount Drosophila embryos and larvae using antibody probes. Methods Cell Biol 44: 445-487.
34. Chu-LaGraff Q, Schmid A, Leidel J, Bronner G, Jackle H, et al. (1995) Huckebein specifies aspects of CNS precursor identity required for motoneuron axon pathfinding. Neuron 15: 1041-1051.