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Pharmacogenomics Volume 9, 2008 - Issue 6
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Review

Differential Sensitivity of Mouse Strains to an N-Alkylated Imino Sugar: Glycosphingolipid Metabolism and Acrosome Formation

Aarnoud C van der Spoel1 Department of Pharmacology, University of Oxford, OxfordOX1 3QT, UK. [email protected]View further author information
,
Richard Mott2 Wellcome Trust Centre for Human Genetics, University of Oxford, OxfordOX3 7BN, UKView further author information
&
Frances M Platt1 Department of Pharmacology, University of Oxford, OxfordOX1 3QT, UK. [email protected]View further author information
Pages 717-731 | Published online: 03 Jun 2008

Bibliography

  • Compain P , MartinOR (Eds): Iminosugars: From Synthesis to Therapeutic Applications. John Wiley and Sons, Chichester, UK (2007).
  • Stutz AE (Ed.): Iminosugars as Glycosidase Inhibitors: Nojirimycin and Beyond. Wiley VCH, Weinheim, Germany (1998).
  • Asano N : Naturally occurring iminosugars and related compounds: structure, distribution, and biological activity.Curr. Top. Med. Chem.3, 471–484 (2003).
  • Treiber A , MorandO, ClozelM: The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat.Xenobiotica37, 298–314 (2007).
  • Mellor HR , NolanJ, PickeringL et al.: Preparation, biochemical characterization and biological properties of radiolabelled N-alkylated deoxynojirimycins. Biochem. J.366, 225–233 (2002).
  • Walden CM , SandhoffR, ChuangCC et al.: Accumulation of glucosylceramide in murine testis, caused by inhibition of β-glucosidase 2: implications for spermatogenesis. J. Biol. Chem.282, 32655–32664 (2007).
  • Bone W , WaldenCM, FritschM et al.: The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic study. Reprod. Biol. Endocrinol.5, 1 (2007).
  • Durantel D , Branza-NichitaN, Carrouee-DurantelS, ButtersTD, DwekRA, ZitzmannN: Study of the mechanism of antiviral action of iminosugar derivatives against bovine viral diarrhea virus.J. Virol.75, 8987–8998 (2001).
  • Walden CM , ButtersTD, DwekRA, PlattFM, van der Spoel AC: Long-term non-hormonal male contraception in mice using N-butyldeoxynojirimycin. Hum. Reprod.21, 1309–1315 (2006).
  • Mayorga LS , TomesCN, BelmonteSA: Acrosomal exocytosis, a special type of regulated secretion.IUBMB Life59, 286–292 (2007).
  • Yanagimachi R : Mammalian fertilization. In: The physiology of reproduction. Knobil E, Neill JD (Eds). Raven Press, New York, USA (1994).
  • Hillman N , NadijckaM: A study of spermatozoan defects in wild-type and T:t-bearing mice.J. Embryol. Exp. Morphol.44, 263–280 (1978).
  • Kishikawa H , TatenoH, YanagimachiR: Chromosome analysis of BALB/c mouse spermatozoa with normal and abnormal head morphology.Biol. Reprod.61, 809–812 (1999).
  • Pogany GC , BalhornR: Quantitative fluorometry of abnormal mouse sperm nuclei.J. Reprod. Fertil.96, 25–34 (1992).
  • van der Spoel AC , JeyakumarM, Butters TD et al.: Reversible infertility in male mice following oral administration of alkylated imino sugars: a non-hormonal approach to male contraception. PNAS99, 17173–17178 (2002).
  • Suganuma R , WaldenCM, ButtersTD et al.: Alkylated imino sugars, reversible male infertility-inducing agents, do not affect the genetic integrity of male mouse germ cells during short-term treatment despite induction of sperm deformities. Biol. Reprod.72, 805–813 (2005).
  • Hollander WF , BryanJHD, GowenJW: A male sterile pink-eyed mutant type in the mouse.Fertil. Steril.11, 316–324 (1960).
  • Boot RG , VerhoekM, Donker-KoopmanW et al.: Identification of the non-lysosomal glucosylceramidase as β-glucosidase 2. J. Biol. Chem.282, 1305–1312 (2007).
  • Russell LD , EttlinRA, Sinha Hikim AP, Clegg ED: Histological and histopathological evaluation of the testis. Cache River Press, Clearwater, FL, USA (1990).
  • Oko R : Occurrence and formation of cytoskeletal proteins in mammalian spermatozoa.Andrologia30, 193–206 (1998).
  • Oko RJ : Developmental expression and possible role of perinuclear theca proteins in mammalian spermatozoa.Reprod. Fertil. Dev.7, 777–797 (1995).
  • Korley R , PouresmaeiliF, OkoR: Analysis of the protein composition of the mouse sperm perinuclear theca and characterization of its major protein constituent.Biol. Reprod.57, 1426–1432 (1997).
  • Aul RB , OkoRJ: The major subacrosomal occupant of bull spermatozoa is a novel histone H2B.Dev. Biol.242, 376–387 (2002).
  • Wu AT , SutovskyP, XuW, van der Spoel AC, Platt FM, Oko R: The postacrosomal assembly of sperm head protein, PAWP, is independent of acrosome formation and dependent on microtubular manchette transport. Dev. Biol.312, 471–483 (2007).
  • Kang-Decker N , MantchevGT, JunejaSC, McNivenMA, van Deursen JM: Lack of acrosome formation in Hrb-deficient mice. Science294, 1531–1533 (2001).
  • Yao R , ItoC, NatsumeY et al.: Lack of acrosome formation in mice lacking a Golgi protein, GOPC. Proc. Natl Acad. Sci. USA99, 11211–11216 (2002).
  • Juneja SC , van Deursen JM: A mouse model of familial oligoasthenoteratozoospermia. Hum. Reprod.20, 881–893 (2005).
  • Ji Y , WalkowiczMJ, BuitingK et al.: The ancestral gene for transcribed, low-copy repeats in the Prader- Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum. Mol. Genet.8, 533–542 (1999).
  • Lehman AL , NakatsuY, ChingA et al.: A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc. Natl Acad. Sci. USA95, 9436–9441 (1998).
  • Schmitt-John T , DrepperC, MussmannA et al.: Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nat. Genet.37, 1213–1215 (2005).
  • Mussmann A , DrepperC, HeimannP et al.: Expresion and metabolite profiling of the murine Wobbler globozoospermia and mapping of a fertility-restoring allele. Presented at: 10th International Symposium on Spermatology. El Escorial, Spain, 17–22 September (2006).
  • Sotomayor RE , HandelMA: Failure of acrosome assembly in a male sterile mouse mutant.Biol. Reprod.34, 171–182 (1986).
  • Dam AH , KoscinskiI, KremerJA et al.: Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am. J. Hum. Genet.81, 813–820 (2007).
  • Amory JK , MullerCH, PageST et al.: Miglustat has no apparent effect on spermatogenesis in normal men. Hum. Reprod.22, 702–707 (2007).
  • Long AD , MullaneySL, ReidLA, FryJD, LangleyCH, MackayTF: High resolution mapping of genetic factors affecting abdominal bristle number in Drosophila melanogaster.Genetics139, 1273–1291 (1995).
  • Andersson U , ButtersTD, DwekRA, Platt FM: N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo. Biochem. Pharmacol.59, 821–829 (2000).
  • Elbein AD : Inhibitors of the biosynthesis and processing of N-linked oligosaccharide chains.Annu. Rev. Biochem.56, 497–534 (1987).
  • Butters TD , van den Broek LAGM, Fleet GWJ et al.: Molecular requirements of imino sugars for the selective control of N-linked glycosylation and glycosphingolipid biosynthesis. Tetrahedron Asymmetry11, 113–124 (2000).
  • Nyholm PG , PascherI, SundellS: The effect of hydrogen bonds on the conformation of glycosphingolipids. Methylated and unmethylated cerebroside studied by x-ray single crystal analysis and model calculations.Chem. Phys. Lipids52, 1–10 (1990).
  • Hakomori S , IneoI: Glycolipids: Animal. In: Encyclopedia of Life Sciences. John Wiley and Sons, Chichester, UK (1996).
  • Kolter T , ProiaRL, SandhoffK: Combinatorial ganglioside biosynthesis.J. Biol. Chem.277, 25859–25862 (2002).
  • Futerman AH , BoldinSA, BrannAB, Pelled D, Meivar-Levy I, Zisling R: Regulation of sphingolipid and glycosphingolipid metabolism during neuronal growth and development. Biochem. Soc. Trans.27, 432–437 (1999).
  • Rabionet M , van der Spoel AC, Chuang CC et al.: Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3. J. Biol. Chem.283(19), 13357–13369 (2008).
  • Yu RK , BieberichE, XiaT, ZengG: Regulation of ganglioside biosynthesis in the nervous system.J. Lipid Res.45, 783–793 (2004).
  • Ngamukote S , YanagisawaM, ArigaT, AndoS, YuRK: Developmental changes of glycosphingolipids and expression of glycogenes in mouse brains.J. Neurochem.103, 2327–2341 (2007).
  • Todeschini RA , HakomoriSI: Functional role of glycosphingolipids and gangliosides in control of cell adhesion, motility, and growth, through glycosynaptic microdomains.Biochim. Biophys. Acta1780, 421–433 (2008).
  • Yamashita T , WadaR, SasakiT et al.: A vital role for glycosphingolipid synthesis during development and differentiation. Proc. Natl Acad. Sci. USA96, 9142–9147 (1999).
  • Choi MJ , MaibachHI: Role of ceramides in barrier function of healthy and diseased skin.Am. J. Clin. Dermatol.6, 215–223 (2005).
  • Holleran WM , TakagiY, UchidaY: Epidermal sphingolipids: metabolism, function, and roles in skin disorders.FEBS Lett.580, 5456–5466 (2006).
  • Jennemann R , SandhoffR, WangS et al.: Cell-specific deletion of glucosylceramide synthase in brain leads to severe neural defects after birth. Proc. Natl Acad. Sci. USA102, 12459–12464 (2005).
  • Yamashita T , WuYP, SandhoffR et al.: Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions. Proc. Natl Acad. Sci. USA102, 2725–2730 (2005).
  • Kabayama K , SatoT, SaitoK et al.: Dissociation of the insulin receptor and caveolin-1 complex by ganglioside GM3 in the state of insulin resistance. Proc. Natl Acad. Sci. USA104, 13678–13683 (2007).
  • Yamashita T , HashiramotoA, HaluzikM et al.: Enhanced insulin sensitivity in mice lacking ganglioside GM3. Proc. Natl Acad. Sci. USA100, 3445–3449 (2003).
  • Paget C , MallevaeyT, SpeakAO et al.: Activation of invariant NKT cells by toll-like receptor 9-stimulated dendritic cells requires type I interferon and charged glycosphingolipids. Immunity27, 597–609 (2007).
  • Speak AO , SalioM, NevilleDC et al.: Implications for invariant natural killer T cell ligands due to the restricted presence of isoglobotrihexosylceramide in mammals. Proc. Natl Acad. Sci. USA104, 5971–5976 (2007).
  • Takamiya K , YamamotoA, FurukawaK et al.: Complex gangliosides are essential in spermatogenesis of mice: possible roles in the transport of testosterone. Proc. Natl Acad. Sci. USA95, 12147–12152 (1998).
  • Sandhoff R , GeyerR, JennemannR et al.: Novel class of glycosphingolipids involved in male fertility. J. Biol. Chem.280, 27310–27318 (2005).
  • Jeyakumar M , ButtersTD, DwekRA, Platt FM: Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis. Neuropathol. Appl. Neurobiol.28, 343–357 (2002).
  • Winchester B , VellodiA, YoungE: The molecular basis of lysosomal storage diseases and their treatment.Biochem. Soc. Trans.28, 150–154 (2000).
  • Kacher Y , FutermanAH: Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options.FEBS Lett.580, 5510–5517 (2006).
  • Kolter T , SandhoffK: Sphingolipid metabolism diseases.Biochim. Biophys. Acta1758, 2057–2079 (2006).
  • Jeyakumar M , ButtersTD, Cortina-Borja M et al.: Delayed symptom onset and increased life expectancy in sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc. Natl Acad. Sci. USA96, 6388–6393 (1999).
  • Platt FM , NeisesGR, ReinkensmeierG et al.: Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science276, 428–431 (1997).
  • Cox T , LachmannR, HollakC et al.: Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet355, 1481–1485 (2000).
  • Elstein D , HollakC, AertsJM et al.: Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in Type I Gaucher disease. J. Inherit. Metab. Dis.27, 757–766 (2004).
  • Jeyakumar M , DwekRA, ButtersTD, Platt FM: Storage solutions: treating lysosomal disorders of the brain. Nat. Rev. Neurosci.6, 713–725 (2005).
  • Butters TD , DwekRA, PlattFM: Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses.Glycobiology15, 43R–52R (2005).
  • Cox TM : Substrate reduction therapy for lysosomal storage diseases.Acta Paediatr. (Suppl. 94), 69–75; discussion 57 (2005).
  • Lachmann RH : Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders.Drugs Today (Barc)42, 29–38 (2006).
  • Aerts JM , HollakCE, BootRG, GroenerJE, MaasM: Substrate reduction therapy of glycosphingolipid storage disorders.J. Inherit. Metab. Dis.29, 449–456 (2006).
  • Chien YH , LeeNC, TsaiLK et al.: Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. J. Inherit. Metab. Dis.30, 826 (2007).
  • Patterson MC , VecchioD, PradyH, AbelL, WraithJE: Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.Lancet Neurol.6, 765–772 (2007).
  • Futerman AH , HannunYA: The complex life of simple sphingolipids.EMBO Rep.5, 777–782 (2004).
  • Lahiri S , FutermanAH: The metabolism and function of sphingolipids and glycosphingolipids.Cell. Mol. Life Sci.64, 2270–2284 (2007).
  • Degroote S , WolthoornJ, van Meer G: The cell biology of glycosphingolipids. Semin. Cell Dev. Biol.15, 375–387 (2004).
  • van Meer G , WolthoornJ, DegrooteS: The fate and function of glycosphingolipid glucosylceramide.Philos. Trans. R. Soc. Lond. B Biol. Sci.358, 869–873 (2003).
  • Coste H , MartelMB, GotR: Topology of glucosylceramide synthesis in Golgi membranes from porcine submaxillary glands.Biochim. Biophys. Acta858, 6–12 (1986).
  • Futerman AH , PaganoRE: Determination of the intracellular sites and topology of glucosylceramide synthesis in rat liver.Biochem. J.280(Pt 2), 295–302 (1991).
  • Jeckel D , KarrenbauerA, BurgerKN, van MeerG, WielandF: Glucosylceramide is synthesized at the cytosolic surface of various Golgi subfractions.J. Cell Biol.117, 259–267 (1992).
  • Halter D , NeumannS, van Dijk SM et al.: Pre- and post-Golgi translocation of glucosylceramide in glycosphingolipid synthesis. J. Cell Biol.179, 101–115 (2007).
  • Yildiz Y , MaternH, ThompsonB et al.: Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J. Clin. Invest.116, 2985–2994 (2006).
  • D‘Angelo G , PolishchukE, Di Tullio G et al.: Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide. Nature449, 62–67 (2007).
  • Platt FM , NeisesGR, DwekRA, Butters TD: N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J. Biol. Chem.269, 8362–8365 (1994).
  • Platt FM , NeisesGR, KarlssonGB, Dwek RA, Butters TD: N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. J. Biol. Chem.269, 27108–27114 (1994).
  • Matern H , HeinemannH, LeglerG, MaternS: Purification and characterization of a microsomal bile acid β-glucosidase from human liver.J. Biol. Chem.272, 11261–11267 (1997).
  • Overkleeft HS , RenkemaGH, NeeleJ et al.: Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase. J. Biol. Chem.273, 26522–26527 (1998).
  • Tettamanti G : Ganglioside/glycosphingolipid turnover: new concepts.Glycoconj. J.20, 301–317 (2004).
  • Maxfield FR , McGrawTE: Endocytic recycling.Nat. Rev. Mol. Cell Biol.5, 121–132 (2004).
  • Forgac M : Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology.Nat. Rev. Mol. Cell Biol.8, 917–929 (2007).
  • Sun-Wada GH , WadaY, FutaiM: Diverse and essential roles of mammalian vacuolar-type proton pump ATPase: toward the physiological understanding of inside acidic compartments.Biochim. Biophys. Acta1658, 106–114 (2004).
  • Chia SE , TaySK, LimST: What constitutes a normal seminal analysis? Semen parameters of 243 fertile men.Hum. Reprod.13, 3394–3398 (1998).
  • Guzick DS , OverstreetJW, Factor-LitvakP et al.: Sperm morphology, motility, and concentration in fertile and infertile men. N. Engl. J. Med.345, 1388–1393 (2001).
  • van der Merwe FH , KrugerTF, Oehninger SC, Lombard CJ: The use of semen parameters to identify the subfertile male in the general population. Gynecol. Obstet. Invest.59, 86–91 (2005).
  • Spudich JL , KoshlandDE Jr: Non-genetic individuality: chance in the single cell. Nature262, 467–471 (1976).
  • Kaern M , ElstonTC, BlakeWJ, CollinsJJ: Stochasticity in gene expression: from theories to phenotypes.Nat. Rev. Genet.6, 451–464 (2005).
  • Kaufmann BB , van Oudenaarden A: Stochastic gene expression: from single molecules to the proteome. Curr. Opin. Genet. Dev.17, 107–112 (2007).
  • Rao CV , WolfDM, ArkinAP: Control, exploitation and tolerance of intracellular noise.Nature420, 231–237 (2002).
  • Aitken RJ , SawyerD: The human spermatozoon – not waving but drowning.Adv. Exp. Med. Biol.518, 85–98 (2003).
  • Swan SH : Does our environment affect our fertility? Some examples to help reframe the question.Semin. Reprod. Med.24, 142–146 (2006).
  • Jorgensen N , AsklundC, CarlsenE, SkakkebaekNE: Coordinated European investigations of semen quality: results from studies of Scandinavian young men is a matter of concern.Int. J. Androl.29, 54–61; discussion 105–108 (2006).
  • Sweedler J , ArriagaE: Single cell analysis.Anal. Bioanal. Chem.387, 1–2 (2007).
  • Turner EH , CohenD, PugsleyHR et al.: Chemical cytometry: the chemical analysis of single cells. Anal. Bioanal. Chem.390, 223–226 (2008).
  • Flint J , ValdarW, ShifmanS, MottR: Strategies for mapping and cloning quantitative trait genes in rodents.Nat. Rev. Genet.6, 271–286 (2005).
  • Peters LL , RobledoRF, BultCJ, Churchill GA, Paigen BJ, Svenson KL: The mouse as a model for human biology: a resource guide for complex trait analysis. Nat. Rev. Genet.8, 58–69 (2007).
  • Arbilly M , PisanteA, DevorM, DarvasiA: An integrative approach for the identification of quantitative trait loci.Anim. Genet.37(Suppl. 1), 7–9 (2006).
  • Flaherty L , HerronB, SymulaD: Genomics of the future: identification of quantitative trait loci in the mouse.Genome Res.15, 1741–1745 (2005).
  • Mott R : Finding the molecular basis of complex genetic variation in humans and mice.Philos. Trans. R. Soc. Lond. B Biol. Sci.361, 393–401 (2006).
  • Su Z , TsaihSW, SzatkiewiczJ, ShenY, PaigenB: Candidate genes for plasma triglyceride, free fatty acid, and glucose revealed from an intercross between inbred mouse strains NZB/B1NJ × NZW/LacJ.J. Lipid Res. (2008) (Epub ahead of print).
  • Neville DC , CoquardV, PriestmanDA et al.: Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling. Anal. Biochem.331, 275–282 (2004).
  • Whitmore CD , HindsgaulO, PalcicMM, SchnaarRL, DovichiNJ: Metabolic cytometry. Glycosphingolipid metabolism in single cells.Anal. Chem.79, 5139–5142 (2007).
  • Lee YM , VenkataramanK, HwangSI, Han DK, Hla T: A novel method to quantify sphingosine 1-phosphate by immobilized metal affinity chromatography (IMAC). Prostaglandins Other Lipid Mediat.84, 154–162 (2007).

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