A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 3, 2014, Pages 1120-1125

  Takasaki, Nobuyoshi ^a   Tachibana, Kouichi ^a   Ogasawara, Satoshi ^a   Matsuzaki, Hideki ^a   Hagiuda, Jun ^b   Ishikawa, Hiromichi ^b   Mochida, Keiji ^c   Inoue, Kimiko ^c   Ogonuki, Narumi ^c   Ogura, Atsuo ^c   Noce, Toshiaki ^d   Ito, Chizuru ^e   Toshimori, Kiyotaka ^e   Narimatsu, Hisashi ^a  

^a NATIONAL INSTITUTE OF ADVANCED INDUSTRIAL SCIENCE AND TECHNOLOGY AIST   (Japan)

^b TOKYO DENTAL COLLEGE   (Japan)

^c RIKEN BIORESOURCE CENTER   (Japan)

^d KEIO UNIVERSITY   (Japan)

^e CHIBA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACROSIN; DIPEPTIDYL CARBOXYPEPTIDASE; FRUCTOSE BISPHOSPHATE ALDOLASE; GLYCOLYTIC ENZYME; HEXOKINASE; N ACETYLGALACTOSAMINYLTRANSFERASE; N ETHYLMALEIMIDE SENSITIVE FACTOR; POLYPEPTIDE N ACETYLGALACTOSAMINYLTRANSFERASE LIKE PROTEIN 5; UBIQUITIN; UNCLASSIFIED DRUG;

ACROSOME; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; ASTHENOSPERMIA; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME GLYCOSYLATION; ENZYME LOCALIZATION; GENE MUTATION; HETEROZYGOUS MUTATION; HUMAN; HUMAN CELL; MALE; MALE FERTILITY; MALE INFERTILITY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RAT; SCREENING; SPERMATID; SPERMATOGENESIS; SPERMATOZOON; SPERMATOZOON COUNT; SPERMATOZOON MOTILITY; TESTIS;

ACROSOME; ANIMALS; ASTHENOZOOSPERMIA; CYTOPLASM; HETEROZYGOTE; HUMANS; INFERTILITY, MALE; LECTINS; MALE; MICE; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY; SPERM MOTILITY; SPERMATIDS; SPERMATOGENESIS; SPERMATOZOA; TESTIS; UBIQUITIN;

EID: 84892922827     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1310777111     Document Type: Article

References (32)

1. Röttger S, et al. (1998) Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus. J Cell Sci 111(Pt 1):45-60.
2. Peng C, et al. (2010) Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile. Biochem Biophys Res Commun 402(4):680-686.
3. Raman J, Guan Y, Perrine CL, Gerken TA, Tabak LA (2012) UDP-N-acetyl-α-D-galactosamine: polypeptide N- acetylgalactosaminyltransferases: Completion of the family tree. Glycobiology 22(6):768-777.
4. Bennett EP, Hassan H, Clausen H (1996) cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N- acetylgalactosaminyltransferase, GalNAc-t3. J Biol Chem 271(29):17006-17012.
5. White T, et al. (1995) Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D-galactosamine: polypeptide N- acetylgalactosaminyltransferase. J Biol Chem 270(41):24156-24165.
6. Guo JM, et al. (2002) Molecular cloning and characterization of a novel member of the UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase family, pp-GalNAc-T12. FEBS Lett 524(1-3):211-218.
7. Ten Hagen KG, Fritz TA, Tabak LA (2003) All in the family: The UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferases. Glycobiology 13(1):1R-16R.
8. Okajima T, Xu A, Lei L, Irvine KD (2005) Chaperone activity of protein O-fucosyltransferase 1 promotes notch receptor folding. Science 307(5715):1599-1603.
9. Ventelä S, Toppari J, Parvinen M (2003) Intercellular organelle traffic through cytoplasmic bridges in early spermatids of the rat: Mechanisms of haploid gene product sharing. Mol Biol Cell 14(7):2768-2780.
10. Curi SM, et al. (2003) Asthenozoospermia: Analysis of a large population. Arch Androl 49(5):343-349.
11. Matzuk MM, Lamb DJ (2008) The biology of infertility: Research advances and clinical challenges. Nat Med 14(11):1197-1213.
12. Narimatsu H (2004) Construction of a human glycogene library and comprehensive functional analysis. Glycoconj J 21(1-2):17-24.
13. Hagen FK, Van Wuyckhuyse B, Tabak LA (1993) Purification, cloning, and expression of a bovine UDP-GalNAc: polypeptide N-acetyl- galactosaminyltransferase. J Biol Chem 268(25):18960-18965.
14. Kierszenbaum AL, Rivkin E, Tres LL (2003) Acroplaxome, an F-actin-keratin-containing plate, anchors the acrosome to the nucleus during shaping of the spermatid head. Mol Biol Cell 14(11):4628-4640.
15. Kierszenbaum AL, Tres LL (2004) The acrosome-acroplaxome-manchette complex and the shaping of the spermatid head. Arch Histol Cytol 67(4):271-284.
16. Cao W, Gerton GL, Moss SB (2006) Proteomic profiling of accessory structures from the mouse sperm flagellum. Mol Cell Proteomics 5(5):801-810.
17. Danshina PV, et al. (2010) Phosphoglycerate kinase 2(PGK2) is essential for sperm function and male fertility in mice. Biol Reprod 82 (1):136-145.
18. Haraguchi CM, et al. (2004) Ubiquitin signals in the developing acrosome during spermatogenesis of rat testis: An immunoelectron microscopic study. J Histochem Cytochem 52(11):1393-1403.
19. Gallo JM, et al. (1991) Characterization of a monoclonal antibody to human proacrosin and its use in acrosomal status evaluation. J Histochem Cytochem 39(3):273-282.
20. Michaut M, Tomes CN, De Blas G, Yunes R, Mayorga LS (2000) Calcium-triggered acrosomal exocytosis in human spermatozoa requires the coordinated activation of Rab3A and N-ethylmaleimide-sensitive factor. Proc Natl Acad Sci USA 97(18):9996-10001.
21. Ramalho-Santos J, Moreno RD, Wessel GM, Chan EK, Schatten G (2001) Membrane trafficking machinery components associated with the mammalian acrosome during spermiogenesis. Exp Cell Res 267(1):45-60.
22. Kessler SP, Rowe TM, Gomos JB, Kessler PM, Sen GC (2000) Physiological non-equivalence of the two isoforms of angiotensin-converting enzyme. J Biol Chem 275(34):26259-26264.
23. Ramaraj P, Kessler SP, Colmenares C, Sen GC (1998) Selective restoration of male fertility in mice lacking angiotensin-converting enzymes by sperm-specific expression of the testicular isozyme. J Clin Invest 102(2):371-378.
24. Kondoh G, et al. (2005) Angiotensin-converting enzyme is a GPI-anchored protein releasing factor crucial for fertilization. Nat Med 11(2):160-166.
25. Rivkin E, Kierszenbaum AL, Gil M, Tres LL (2009) Rnf19a, a ubiquitin protein ligase, and Psmc3, a component of the 26S proteasome, tether to the acrosome membranes and the head-tail coupling apparatus during rat spermatid development. Dev Dyn 238(7):1851-1861.
26. Braun RE, Behringer RR, Peschon JJ, Brinster RL, Palmiter RD (1989) Genetically haploid spermatids are phenotypically diploid. Nature 337(6205):373-376.
27. Kierszenbaum AL, Rivkin E, Tres LL (2011) Cytoskeletal track selection during cargo transport in spermatids is relevant to male fertility. Spermatogenesis 1(3):221-230.
28. Iwai T, et al. (2002) Molecular cloning and characterization of a novel UDP-GlcNAc: GalNAc-peptide beta1, 3-N-acetylglucosaminyltransferase (beta 3Gn-T6), an enzyme synthesizing the core 3 structure of O-glycans. J Biol Chem 277(15):12802-12809.
29. Togayachi A, et al. (2001) Molecular cloning and characterization of UDP-GlcNAc: lactosylceramide beta 1, 3-N-acetylglucosaminyltransferase (beta 3Gn-T5), an essential enzyme for the expression of HNK-1 and Lewis X epitopes on glycolipids. J Biol Chem 276(25):22032-22040.
30. Fujiwara Y, et al. (1994) Isolation of a DEAD-family protein gene that encodes a murine homolog of Drosophila vasa and its specific expression in germ cell lineage. Proc Natl Acad Sci USA 91(25):12258-12262.
31. Ogura A, Yanagimachi R (1993) Round spermatid nuclei injected into hamster oocytes from pronuclei and participate in syngamy. Biol Reprod 48(2):219-225.
32. Miki K, et al. (2002) Targeted disruption of the Akap4 gene causes defects in sperm flagellum and motility. Dev Biol 248(2):331-342.