Strain-specific modification of lethality in fucose-deficient mice

Mammalian Genome

Volumn 14, Issue 2, 2003, Pages 130-139

  Becker, Daniel J ^a   Myers, Jay T ^a   Ruff, Melissa M ^a   Smith, Peter L ^a   Gillespie, Brenda W ^a   Ginsburg, David ^a   Lowe, John B ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE DIPHOSPHATE FUCOSE;

ALLELE; ANIMAL MODEL; ARTICLE; CARBOHYDRATE METABOLISM; ENZYME SYNTHESIS; FEMALE; GENE LOCUS; HEREDITY; HETEROZYGOSITY; LETHALITY; MALE; MOUSE; NONHUMAN; PHENOTYPE; PROGENY; SURVIVAL;

ALLELES; ANIMALS; CARBOHYDRATE METABOLISM; CROSSES, GENETIC; FEMALE; FUCOSE; GENETIC TECHNIQUES; GENOME; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; SPECIES SPECIFICITY;

ANIMALIA;

EID: 0037326807     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00335-002-2212-5     Document Type: Article

References (28)

1. Ashwell KW, Mai JK (1997) Developmental expression of the CD 15 epitope in the hippocampus of the mouse. Cell Tissue Res 289, 17-23
2. Benevolenskaya EV, Frolov MV, Birchler JA (1998) The sugarless mutation affects the expression of the white eye color gene in Drosophila melanogaster. Mol Gen Genet 260, 131-143
3. Bruckner K, Perez L, Clausen H, Cohen S (2000) Glycosyltransferase activity of Fringe modulates Notch-Delta interactions. Nature 406, 411-415
4. Chen J, Moloney DJ, Stanley P (2001) Fringe modulation of Jagged1-induced Notch signaling requires the action of beta 4galactosyltransferase-1. Proc Natl Acad Sci USA 98, 13716-13721
5. Dipple KM, McCabe ER (2000a) Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 71, 43-50
6. Dipple KM, McCabe ER (2000b) Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 66, 1729-1735
7. Eshel R, Zanin A, Sagi-Assif O, Meshel T, Smorodinsky NI et al. (2000) The GPI-linked Ly-6 antigen E48 regulates expression levels of the FX enzyme and of E-selectin ligands on head and neck squamous carcinoma cells. J Biol Chem 275, 12833-12840
8. Goto S, Taniguchi M, Muraoka M, Toyoda H, Sado Y et al. (2001) UDP- sugar transporter implicated in glycosylation and processing of Notch. Nat Cell Biol 3, 816-822
9. Harris RJ, Spellman MW (1993) O-linked fucose and other post-translational modifications unique to EGF modules. Glycobiology 3, 219-224
10. Johnson SW, Alhadeff JA (1991) Mammalian alpha-L-fucosidases. Comp Biochem Physiol B 99, 479-488
11. Johnson WG, Hong JL (1986) Variation in alpha-L-fucosidase properties among 28 inbred mouse strains: six strains have high enzyme activity and heat-stabile enzyme with a variant pH-activity curve; twenty-two strains have low activity and heat-labile enzyme. Biochem Genet 24, 469-483
12. Jonas AJ, Conrad P, Jobe H (1990) Neutral-sugar transport by rat liver lysosomes. Biochem 272, 323-326
13. Kappas A, Sassa S, Galbraith RA, Nordmann Y (1995) The porphyrias. In: The Metabolic and Molecular Bases of Inherited Disease, CR Scriver, AL Beaudet, WS Sly, and D Valle, (eds.) (New York: McGraw-Hill, Inc), pp 2103-2159
14. Keppler OT, Hinderlich S, Langner J, Schwartz-Albiez R, Reutter W, et al. (1999) UDP-G1cNAc 2-epimerase: a regulator of cell surface sialylation. Science 284, 1372-1376
15. Marquardt T, Luhn K, Srikrishna G, Freeze HH, Harms E, et al. (1999) Correction of leukocyte adhesion deficiency type II with oral fucose. Blood 94, 3976-3985
16. Moloney DJ, Panin VM, Johnston SH, Chen J, Shao et al. (2000) Fringe is a glycosyltransferase that modifies Notch. Nature 406, 369-375
17. Nadeau JH (2001) Modifier genes in mice and humans. Nat Rev Genet 2, 165-174
18. Pearson H (2002) Surviving a knockout blow. Nature 415, 8-9
19. Puglielli L, Hirschberg CB (1999) Reconstitution, identification, and purification of the rat liver golgi membrane GDP-fucose transporter. J Biol Chem 274, 35596-35600
20. Scriver CR, Waters PJ (1999) Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet 15, 267-272
21. Selva EM, Hong K, Baeg GH, Beverley SM, Turco SJ et al. (2001) Dual role of the fringe connection gene in both heparan sulphate and fringe-dependent signalling events. Nat Cell Biol 3, 809-815
22. Simpson EM, Linder CC, Sargent EE, Davisson MT, Mobraaten LE et al. (1997) Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice. Nat Genet 16, 809-815
23. Smith PL, Myers JT, Rogers CE, Zhou L, Petryniak B et al. (2002) Conditional control of selectin ligand expression and global fucosylation events in mice with a targeted mutation at the FX locus. J Cell Biol 158, 801-815
24. Staudacher E, Altmann F, Wilson IB, Marz L (1999) Fucose in N-glycans: from plant to man Biochim Biophys Acta 1473, 216-236
25. Strauss WM (1998) Preparation of genomic DNA from mammalian tissue. In Current Protocols in Molecular Biology. FM. Ausubel, R. Brent, RE, Kingston, DD Moore, JG Seidman et al., (eds.)(New York: John J. Wiley and Sons, Inc), pp 2.2.1-2.2.3
26. Taylor BA, Navin A, Phillips SJ (1994) PCR-amplification of simple sequence repeat variants from pooled DNA samples for rapidly mapping new mutations of the mouse. Genomics 21, 626-632
27. Toma L, Pinhal MA, Dietrich CP, Nader HB, Hirschberg CB (1996) Transport of UDP-galactose into the Golgi lumen regulates the biosynthesis of proteoglycans. J Biol Chem 271, 3897-3901
28. Tonetti M, Sturla L, Bisso A, Benatti U, De Flora A (1996) Synthesis of GDP-L-fucose by the human FX protein. J Biol Chem 271, 27274-27279