Sperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseases

American Journal of Pathology

Volumn 170, Issue 6, 2007, Pages 2077-2088

  Butler, Avigdor ^a   Gordon, Ronald E ^a   Gatt, Shimon ^b   Schuchman, Edward H ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ANIMAL CELL; ARTICLE; FERTILIZATION IN VITRO; FLOW CYTOMETRY; GENETIC DISORDER; GENOTYPE; MALE; MEMBRANE POTENTIAL; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; PRIORITY JOURNAL; SEMEN ANALYSIS; SPERMATOZOON ABNORMALITY; SPERMATOZOON COUNT; ANIMAL; CONGENITAL MALFORMATION; EPIDIDYMIS; GENETICS; HUMAN; METABOLISM; MOUSE MUTANT; SPERMATOZOON; SPERMATOZOON MOTILITY; ULTRASTRUCTURE;

ANIMALS; EPIDIDYMIS; FLOW CYTOMETRY; GENOTYPE; HUMANS; MALE; MICE; MICE, KNOCKOUT; NIEMANN-PICK DISEASES; SPERM MOTILITY; SPERMATOZOA; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 34447332847     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.2353/ajpath.2007.061002     Document Type: Article

References (50)

1. Schuchman E, Desnick R: Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. The Metabolic and Molecular Basis of Inherited Disease, ed 8. Edited by C Scriver, A Beaudet, W Sly, D Valle. New York, McGraw-Hill, 2001, p 3589
2. Levade T, Jaffrezou JP: Signaling sphingomyelinases: which, where, how and why? Biochim Biophys Acta 1999, 1438:1-17
3. Tomiuk S, Zumbansen M, Stoffel W: Characterization and subcellular localization of murine and human magnesium-dependent neutral sphingomyelinase. J Biol Chem 2000, 275:5710-5717
4. Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ: Human acid sphingomyelinase. Isolation, nucleotide sequence, and expression of the full-length and alternatively spliced cDNAs. J Biol Chem 1991, 13:8531-8539
5. Schuchman EH, Levran O, Pereira LV, Desnick RJ: Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 1992, 12:197-205
6. Horinouchi K, Sakiyama T, Pereira L, Lalley PA, Schuchman EH: Mouse models of Niemann-Pick disease: mutation analysis and chromosomal mapping rule out the type A and B forms. Genomics 1993, 18:450-451
7. Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandoff K, Desnick RJ, Stewart CL, Schuchman EH: Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet 1995, 10:288-293
8. Otterbach B, Stoffel W: Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). Cell 1995, 81:1053-1061
9. Dhami R, He X, Gordon RE, Elleder M, Schuchman EH: Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. Lab Invest 2001, 81:987-999
10. Miranda SRP, Erlich S, Friedrich VL, Haskins ME, Gatt S, Schuchman EH: Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase deficient mice. Transplantation 1998, 65:884-892
11. Miranda SRP, Erlich S, Visser JWM, Gatt S, Dagan A, Friedrich VL, Schuchman EH: Bone marrow transplantation in acid sphingomyelinase deficient mice: engraftment and cell migration into the brain as a function of radiation, age, and phenotype. Blood 1997, 90:444-452
12. Erlich S, Miranda SRP, Visser JWM, Dagan A, Gatt S, Schuchman EH: Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures. Blood 1999, 93:80-86
13. Trasler J, Saberi F, Somani IH, Adamali HI, Huang JQ, Fortunato SR, Ritter G, Gu M, Aebersold R, Gravel RA, Hermo L: Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides. Endocrinology 1998, 139:3280-3288
14. Adamali HI, Somani IH, Huang JQ, Mahuran D, Gravel RA, Trasler JM, Hermo LI: Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency. J Androl 1999, 20:779-802
15. Kapur DK, Gupta GS: Immunocytochemical localization of β-N-acetyl glucosaminidase in human reproductive organs. Biol Reprod 1988, 38:373-376
16. Fan J, Akabane H, Graham SN, Richardon LL, Zhu G-Z: Sperm defects in mice lacking a functional Niemann-Pick C1 protein. Mol Reprod Dev 2006, 73:1284-1291
17. Luddi A, Strazza M, Carbone M, Moretti E, Costantino-Ceccarini E: Galactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy. Exp Cell Res 2005, 304:59-68
18. Tulsiani DR, Abou-Haila A, Loeser CR, Pereira BM: The biological and functional significance of the sperm acrosome and acrosomal enzymes in mammalian fertilization. Exp Cell Res 1998, 240:151-164
19. Yanagimachi R, Harper MJK, de Kretser DM, Kerr JB: Mammalian fertilization, gamete and zygote transport, and cytology of the testis. The Physiology of Reproduction, ed 2. Edited by E Knobil, JD Neill. New York, Raven Press, 1994, pp 189-206
20. Hinkovska VT, Petkova DH, Koumanov KS: A neutral sphingomyelinase in spermatozoal plasma membranes. Biochem Cell Biol 1987, 65:525-528
21. Hinkovska-Galcheva VTS, Petkova DH, Nikolova MN: Sphingomyelin and ceramide: phosphoethanolamine synthesis in ram spermatozoa plasma membrane. Int J Biochem 1989, 21:1153-1156
22. Butler A, He X, Gordon RE, Wu HS, Gatt S, Schuchman EH: Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. Am J Pathol 2002, 161:1061-1075
23. He X, Miranda SR, Dagan A, Gatt S, Schuchman EH: Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells. Biochim Biophys Acta 1999, 1432:251-264
24. Sterzik K, De Santo M, Uhlich S, Gagsteiger F, Strehler E: Glass wool filtration leads to a higher percentage of spermatozoa with intact acrosomes: an ultrastructural analysis. Hum Reprod 1998, 13:2506-2511
25. Ohashi K, Saji F, Wakimoto A, Kato M, Tsutsui T, Tanizawa O: Preparation of oligozoospermic and/or asthenozoospermic semen for intrauterine insemination using the SpermPrep semen filtration column. Fertil Steril 1992, 57:866-870
26. Raynal P, Pollard HB: Annexins: the problem of assessing the biological role for a gene family of multifunctional calcium and phospholipid-binding proteins. Biochim Biophys Acta 1994, 1197:63-93
27. Gravance CG, Garner DL, Miller MG, Berger T: Fluorescent probes and flow cytometry to assess rat sperm integrity and mitochondrial function. Reprod Toxicol 2001, 15:5-10
28. Cummins JM, Woodall PF: On mammalian sperm dimensions. J Reprod Fert 1985, 75:153-175
29. Kholkute SD, Rodriguez J, Rawlins RG, Dukelow WR: Glass wool column filtration: effects on motility, viability, and fertilizing ability of epididymal spermatozoa from mice. Lab Anim Sci 1994, 44:537-539
30. Lo C, Ferrier J, Tenenbaum HC, McCulloch CA: Regulation of cell volume and intracellular pH in hyposmotically swollen rat osteosarcoma cells. Biochem Cell Biol 1995, 73:535-44
31. Willoughby CE, Mazur P, Peter AT, Critser JK: Osmotic tolerance limits and properties of murine spermatozoa. Biol Reprod 1996, 55:715-727
32. Wyrobek AJ, Meistrich ML, Furrer R, Bruce WR: Physical characteristics of mouse nuclei. Biophys J 1976, 16:811-825
33. Oshio S: Apparent densities of spermatozoa of various mammalian species. Gamete Res 1988, 20:159-164
34. Kaneko S, Oshio S, Kobayashi T, Mohri H, Iizuka R: Buoyancy and sedimentation of human X- and Y-bearing sperm. Arch Androl 1987, 19:211-215
35. Zalata AA, Christophe AB, Depuydt CE, Schoonjans F, Comhaire FH: The fatty acid composition of phospholipids of spermatozoa from infertile patients. Mol Hum Reprod 1998, 4:111-118
36. Johnson LA, Welch GR: Sex preselection: high-speed flow cytometric sorting of X and Y sperm for maximum efficiency. Theriogenology 1999, 52:1323-1341
37. Benaron DA, Gray JW, Gledhill BL, Lake S, Wyrobek AJ, Young IT: Quantification of mammalian sperm morphology by slit-scan flow cytometry. Cytometry 1982, 2:344-349
38. van Munster EB: Interferometry in flow to sort unstained X- and Y-chromosome-bearing bull spermatozoa. Cytometry 2002, 47:192-199
39. Visconti PE, Ning X, Fornes MW, Alvarez JG, Stein P, Connors SA, Kopf GS: Cholesterol efflux-mediated signal transduction in mammalian sperm: cholesterol release signals an increase in protein tyrosine phosphorylation during mouse sperm capacitation. Dev Biol 1999, 214:429-443
40. Troiano L, Granata AR, Cossarizza A, Kalashnikova G, Bianchi R, Pini G, Tropea F, Carani C, Franceschi C: Mitochondrial membrane potential and DNA stainability in human sperm cells: a flow cytometry analysis with implications for male infertility. Exp Cell Res 1998, 241:384-393
41. Imai H, Suzuki K, Ishizaka K, Ichinose S, Oshima H, Okayasu I, Emoto K, Umeda M, Nakagawa Y: Failure of the expression of phospholipid hydroperoxide glutathione peroxidase in the spermatozoa of human infertile males. Biol Reprod 2001, 64:674-683
42. Marchetti C, Obert G, Deffosez A, Formstecher P, Marchetti P: Study of mitochondrial membrane potential, reactive oxygen species, DNA fragmentation and cell viability by flow cytometry in human sperm. Hum Reprod 2002, 17:1257-1265
43. Sutovsky P, Moreno RD, Ramalho-Santos J, Dominko T, Simerly C, Schatten G: Ubiquitinated sperm mitochondria, selective proteolysis, and the regulation of mitochondrial inheritance in mammalian embryos. Biol Reprod 2000, 63:582-590
44. Cummins JM, Kishikawa H, Mehmet D, Yanagimachi R: Fate of genetically marked mitochondrial DNA from spermatocytes microinjected into mouse zygotes. Zygote 1999, 7:151-156
45. Shitara H, Hayashi JI, Takahama S, Kaneda H, Yonekawa H: Maternal inheritance of mouse mtDNA in interspecific hybrids: segregation of the leaked paternal mtDNA followed by the prevention of subsequent paternal leakage. Genetics 1998, 148:851-857
46. Braun RE, Behringer RR, Peschon JJ, Brinster RL, Palmiter RD: Genetically haploid spermatids are phenotypically diploid. Nature 1989, 337:373-376
47. Morales CR, Hake LE, Hecht NB: Cellular localization of the mRNAs of the somatic and testis-specific cytochromes c during spermatogenesis in the rat. Mol Reprod Dev 1993, 34:196-205
48. Thomas KH, Wilkie TM, Tomashefsky P, Bellve AR, Simon MI: Differential gene expression during mouse spermatogenesis. Biol Reprod 1989, 41:729-739
49. Amann RP, Seidel GE: Prospects for Sexing Mammalian Sperm. Boulder, Colorado Associated University Press, 1982
50. Fisher RA: The Genetical Theory of Natural Selection. Oxford, Oxford University Press, 1930