Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: Indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA

Human Molecular Genetics

Volumn 7, Issue 11, 1998, Pages 1787-1794

  Rottier, Robbert J ^a,c   Hahn, Christopher N ^a,d   Mann, Linda W ^a   Del Pilar Martin, Maria ^a   Smeyne, Richard J ^a   Suzuki, Kinuko ^b   D'Azzo, Alessandra ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d HANSON INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYPEPTIDASE C; LYSOSOME ENZYME; MESSENGER RNA;

ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; GALACTOSIALIDOSIS; KIDNEY DISEASE; LYSOSOME STORAGE DISEASE; MOUSE; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

ANIMALS; BRAIN; CARBOXYPEPTIDASE C; CARBOXYPEPTIDASES; EPIDIDYMIS; FEMALE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INTESTINES; LIVER; LYSOSOMAL STORAGE DISEASES; MALE; MICE; MICE, INBRED STRAINS; MICE, KNOCKOUT; OVARY; SPLEEN; TESTIS; UTERUS;

ANIMALIA; ATAXIA;

EID: 0031685250     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.11.1787     Document Type: Article

References (63)

1. d'Azzo, A., Hoogeveen, A., Reuser, A.J., Robinson, D. and Galjaard, H. (1982) Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. Proc: Natl Acad. Sci. USA, 79, 4535-4539.
2. Verheijen,. F., Brossmer, R. and Galjaard, H. (1982) Purification of acid beta-galactosidase and acid neuraminidase from bovine testis: evidence for an enzyme complex. Biochem. Biophys. Res. Commun., 108, 868-875.
3. M1-β-galactosidase purified from porcine spleen. J. Biol. Chem. (Tokyo), 92, 13-21.
4. Yamamoto, Y. and Nishimura, K. (1987) Copurification and separation of β-galactosidase and sialidase from porcine testis. J. Biol. Chem. (Tokyo), 19, 435-442.
5. Hoogeveen, A.T., Verheijen, F.W. and Galjaard. H. (1983) The relation between human lysosomal beta-galactosidase and its protective protein. J. Biol. Chem., 258, 12143-12146.
6. van der Horst, G., Galjart, N.J., d'Azzo, A., Galjaard, H. and Verheijen, F.W. (1989) Identification and in vitro reconstitution of lysosomal neuraminidase from human placenta. J. Biol. Chem., 264, 1317-1322.
7. Bonten, E., van der Spool, A., Fomerod, M., Grosveld, G. and d'Azzo, A. (1996) Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev., 10, 3156-3169.
8. van der Spoel, A., Bonten, E. and d'Azzo, A. (1998) Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A. EMBO J., 17, 1588-1597.
9. Morreau. H., Galjart, N.J., Willemsen, R., Gillemans, N., Zhou, X.Y. and d'Azzo, A. (1992) Human lysosomal protective protein. Glyeosylation, intracellular transport and association with β-galactosidase in the endoplasmic reticulum. J. Biol. Chem., 267, 17949-17956.
10. van Diggelen, O.P., Schram, A.W., Sinnott, M.L., Smith, P.J., Robinson, D. and Galjaard, H. (1981) Turnover of beta-galactosidase in fibrohlasts from patients with genetically diflerent types of beta-galaetosidase deficiency. J. Biol. Chem., 200, 143-151.
11. van Diggelen, O.P., Hoogeveen, A.T., Smith, P.J., Reuser, A.J. and Galjaard, H. (1982) Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency. Biochim. Biophys. Acta, 703, 69-76.
12. van Pelt, J., van Kuik, J.A., Kamerling, J.P., Vliegenthart, J.F., van Diggelen, O.P. and Galjaard, H. (1988) Storage of sialic acid-containing carbohydrates in the placenta of a human galaetosialidosis fetus. Isolation and structural characterization of 16 sialyloligosaccharides. Eur. J. Biol. Chem., 177, 327-338.
13. van Pelt, J., Kamerling, J.P., Vliegenthart, J.F., Hoogeveen, A.T. and Galjaard, H. (1988) A comparative study of the accumulated sialic acid-containing oligosaccharides from cultured human galactosialidosis and sialidosis fibroblasts. Clin. Chim. Acta, 174, 325-335.
14. van Pelt, J., van Bilsen, D.G., Kamerling, J.P. and Vliegenthart, J.F. (1988) Structural analysis of O-glyeosidic type of sialyloligosaccharide-alditols derived from urinary glycopeptides of a sialidosis patient. Eur. J. Biol. Chem., 174, 183-187.
15. van Pelt, J., Hard, K., Kamerling, J.P., Vliegenthart, J.F., Reuser, A.J. and Galjaard, H. (1989) Isolation and structural characterization of twenty-one sialyloligosaccharides from galaetosialidosis urine. An intact N,N′-diacetylchitobiose unit at the reducing end of a diantennary structure. Biol. Chem., Hoppe Seyler. 370, 191-203.
16. d'Azzo, A., Andria, G., Stnsciuglio, P. and Galjaard, H. (1995) In Scriver, C., Beaudet, A., Sly, W. and Valle. D. (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw-Hill, New York, NY, Vol. 2. pp. 2825-2838.
17. Zhou, X.Y. et al. (1995) Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with over-expressing erythroid precursor cells. Genes Dev., 9, 2623-2634.
18. Galjart, N.J., Morreau, H., Willemsen, R., Gillemans, N., Bonten, E.J. and d'Azzo, A. (1991) Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function. J. Biol. Chem., 266, 14754-14762.
19. Jackman, H.L., Tan, F.L., Tamei, H., Buerling-Harbury, C., Li. X.Y. Skidgel, R.A. and Erdos, E.G. (1990) A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal 'protective protein'. J. Biol. Chem., 265, 11265-11272.
20. Jackman, H.L., Morris, P.W., Deddish, P.A., Skidgel, R.A. and Erdos, E.G. (1992) Inaclivation of endothelin 1 by deamidase (lysosomal protective protein). J. Biol. Chem., 267, 2872-2875.
21. Hanna, W.L., Turbov, J.M., Jackman, H.L., Tan, F. and Froelich, C.J. (1994) Dominant chymotrypsin-like esterase activity in human lymphocyte granules is mediated by the serine carboxypeptidase called cathepsin A-like protective protein. J. Immunol., 153, 4663-4672.
22. Itoh, K., Kase, R., Shimmoto, M., Satake, A., Sakuraba, H. and Suzuki, Y. (1995) Protective protein as an endogenous endothelin degradation enzyme in human tissues. J. Biol. Chem., 270, 515-518.
23. Rottier, R. and d'Azzo, A. (1997) Identification of the promoters for the human and murine protective protein/cathepsin A genes. DNA Cell Biol., 16, 599-610.
24. Konnerth, A., Llano, I. and Armstrong, C. (1990) Synaptic currents in cerebellar purkinje cells. Proc. Natl Acad. Sci. USA, 87, 2662-2665.
25. Higashi, Y., Murayama, S., Pentchev, P. and Suzuki, K. (1993) Cerebellar degeneration in the Niemann-Pick type C mouse. Acta Neuropathol. (Berlin), 85, 175-184.
26. Horinouchi, K., Erlich, S., Perl, D.P., Ferlinz, K., Bisgaier, C.L., Sandoff, K., Desnick, R.J., Stewart, C.L. and Schuchman, E.H. (1995) Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease, Nature Genet., 10, 288-293.
27. Otterbach, B. and Stoffel, W. (1995) Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Nieman-Pick diseases). Cell, 81, 1053-1061.
28. Gude, W., Cosgrove, G. and Hirsch, G. (1982) In Histological Atlas of the Laboratory Mouse. Plenum Press, New York and London, Vol. 151.
29. Sprecher-Levy, H., Orr-Urtreger, A., Lonai, P. and Horowitz, M. (1993) Murine prosaposin: expression in the reproductive system of a gene implicated in human genetic diseases. Cell Mol. Biol., 39, 287-299.
30. Sun, Y., Witte, D. and Grabowski, G. (1994) Developmental and tissue-specific expression of prosaposin mRNA in murine tissues. Am. J. Pathol., 145, 1390-1398.
31. Geier, C., Kreysing, J., Bottcher, H., Pohlmann, R. and Figura, K.V. (1992) Localization of lysosomal acid phosphatase mRNA in mouse tissue. J. Histochem. Cytochem., 40, 1275-1282.
32. Du, H., Witte, D. and Grabowski, G. (1996) Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. J. Lipid Res., 37, 937-949.
33. Ponce, E., Witte, D., Hirschhorn, R. and Grabowski, G. (1997) Transcriptional regulation of the mouse lysosomal acid alpha glucosidase gene. Am J. Hum. Genet., 61, A180.
34. Enomaa, N., Lukinmaa, P.-L., Ikonen, E., Waltimo, J., Palotie, A., Paetau, A. and Peltonen, L. (1993) Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients. J. Histochem. Cytochem., 41, 981-989.
35. Pennybacker, M., Liessem, B., Moczall, H., Tifft, C., Sandhoff, K. and Proia, R. (1996) Identification of domains in human beta-hexosaminidase that determine substrate specificity. J. Biol. Chem., 271, 17377-17382.
36. Liu, Y., Hoffmann, A., Grinberg, A., Westphal, H., McDonald, M.P., Miller, K.M., Crawley, J.N., Sandhoff, K., Suzuki, K. and Proia, R.L. (1997) Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment. Proc. Natl Acad. Sci. USA, 94, 8138-8143.
37. Sandhoff, K. and Kolter, T. (1997) Biochemistry of glycosphingolipid degradation. Clin. Chim. Acta, 266, 51-61.
38. Gupta, G. and Setty, B. (1995) Activities and androgenic regulation of lysosomal enzymes in the epididymis of rhesus monkey. Endocr. Res., 21, 733-741.
39. Abou-Haila, A., Tulsiani, D., Skudlarek, M. and Orgebin-Crist, M. (1996) androgen regulation of molecular forms of β-D-glucuronidase in the mouse epididymis: comparison with liver and kidney. J. Androl., 17, 194-207.
40. Norflus, F., Yamanaka, S. and Proia, R. (1996) Promoters for the human beta-hexosaminidase genes, HEXA and HEXB. DNA Cell Biol., 15, 89-97.
41. Maeno, H., Kiyama, H. and Tohyama, M. (1993) Distribution of the substance P receptor (NK-1 receptor) in the central nervous system. Brain Res. Mol. Brain Res., 18, 43-58.
42. Taoka, M., Song, S., Kubota, M., Minegishi, A., Yamakuni, T. and Konishi, S. (1996) Increased level of neurokinin-1 tachykinin receptor gene expression during early postnatal development of rat brain. Neuroscience, 74, 845-853.
43. Obeid, L., Linardic, C.M., Karolak, L. and Hannum, Y. (1993) Programmed cell death induced by ceramide. Science, 259, 1769-1771.
44. Santana, P., Pena, L.A., Haimovitz-Friedman, A., Martin, S., Green, D., McLoughlin, M., Cordon-Cardo, C., Schuchman, E.H., Fuks, Z. and Kolesnick, R. (1996) Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. Cell, 86, 189-199.
45. Verheij, M., Bose, R., Lin, X.H., Yao, B., Jarvis, W.D., Grant, S., Birrer, M.J., Szabo, E., Zon, L.I., Kyriakis, J.M., Haimovitz-Friedman, A., Fuks, Z. and Kolesnick, R.N. (1996) Requirement for ceramide-initiated SAPK/JNK signalling in stress-induced apoptosis. Nature, 380, 75-79.
46. Huang, J., Trasler, J., Igdoura, S., Michaud, J., Hanal, N. and Gravel, R. (1997) Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. Hum. Mol. Genet., 6, 1879-1885.
47. BoesendeCock, J., Tepper, A., Vries, E.d., Blitterswijk, W.v. and Borst, J. (1998) CD95 (Fas/Apo-1) induces ceramide formation and apoptosis in the absence of a functional acid sphingomyelinase. J. Biol. Chem., 273, 7560-7565.
48. Dott, H. (1973) Lysosomes and lysosomal enzymes in reproduction. Adv. Reprod. Physiol., 6, 213-277.
49. Miller, D., Xiaohai, G. and Shur, B. (1993) Sperm require β-N-acetylglucosaminidase to penetrate through the egg zona pellucida. Dev. Biol., 118, 1279-1289.
50. Hall, J., Perez, F., Kochins, J., Petterson, C., Li, Y., Tubbs, C. and LaMarche, M. (1996) Quantification and localization of N-acetyl-β-D-hexosaminidase in the adult rat testis and epididymis. Biol. Reprod., 54, 914-929.
51. Hermo, L., Adamali, H., Mahuran, D., Gravel, R. and Trasler, J. (1997) β-Hexosaminidase immunolocalization and alpha and beta-subunit gene expression in rat testis and epididymis. Mol. Reprod. Dev., 46, 227-242.
52. Furuya, K. et al. (1995) A novel biological aspect of ovarian oxytocin: gene expression of oxytocin and oxytocin receptor in cumulus/luteal cells and the effect of oxytocin on embryogenesis in fertilized oocytes. Adv. Exp. Med. Biol, 395, 523-528.
53. Clerget, M., Elalouf, J. and Germain, G. (1997) Quantitative reverse transcription and polymerase chain reaction analysis of oxytocin and vasopressin receptor mRNAs in the rat uterus near parturition. Mol. Cell. Endocrinology, 136, 79-80.
54. Liu, C., Takahashi, S., Murata, T., Hashimoto, K., Agatsuma, T., Matsukawa, S. and Higuchi, T. (1996) Changes in oxytocin receptor mRNA in the rat uterus measured by competitive reverse transcription-polymerase chain reaction. J. Endocrinology, 150, 479-486.
55. Larcher, A., Neculcea, J., Breton, C., Arslan, A., Rozen, F., Russo, C. and Zingg, H. (1995) Oxytocin receptor gene expression in the rat uterus during pregnancy and estrous cycle and in response to gonadal steroid treatment. Endocrinology, 136, 5350-5356.
56. Wu, W. and Nathanielsz, P. (1994) Changes in the oxytocin receptor messenger RNA, in the endometrium, myometrium, mesometrium and cervix of sheep in late gestation and during spontaneous and cortisol-induced labor. J. Soc. Gynecol. Invest., 1, 191-196.
57. Wu, W., Verbalis, J., Hoffman, G., Derks, J. and Nathanielsz, P. (1996) Characterization of oxytocin receptor expression and distribution in the pregnant sheep uterus. Endocrinology, 137, 772-728.
58. Wathes, D., Smith, H., Leung, S., Stevenson, K., Meier, S. and Jenkin, G. (1996) Oxytocin receptor development in ovine uterus and cervix throughout pregnancy and at parturition as determined by the in situ hybridization analysis, J. Reprod. Fertil., 106, 23-31.
59. Fuchs, A., Fields, M., Freidman, S., Shemesh, M. and Ivell, R. (1995) Oxytocin and the timing of parturition. Influence of oxytocin receptor gene expression, oxytocin secretion and oxytocin-induced prostaglandin F2 alpha and E2 release. Adv. Exp. Med. Biol., 395, 405-420.
60. Nicholson, H. (1996) Oxytocin: a paracrine regulator of prostatic function. Rev. Reprod., 1, 69-72.
61. Kleijer, W.J., Hoogeveen, A., Verheijen, F.W., Niermeijer, M.F., Haljaard, H., O'Brien, J.S. and Warner, T.G. (1979) Prenatal diagnosis of sialidosis with combined neuraminidase and β-galactosidase deficiency. Clin. Genet., 16, 60-61.
62. Simmons, D.M., Arriza, J.L. and Swanson, L. W. (1989) A complete protocol for in situ hybridization of messenger RNAs in brain and other tissues with radio-labeled single-strand RNA probes. J. Histotechnol., 12, 169-181.
63. Rottier, R., Bonten, E. and d'Azzo, A. (1998) A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse. Hum. Mol. Genet., 7, 313-321.