A single autosomal gene controlling the expression of the extended globoglycolipid carrying SSEA-1 determinant is responsible for the expression of two extended globogangliosides.
Two extended globogangliosides, designated as Z1 and Z2, were purified from the kidney of DBA/2 mice. By means of GLC, 1H-NMR spectroscopy, negative-ion fast atom bombardment mass spectrometry, methylation analysis, and enzymatic digestion, the structures of Z1 and Z2 were determined to be NeuGc alpha 2-3Gal beta 1-3GalNAc beta 1-3Gal alpha 1-4Gal beta 1-4Glc beta 1-Cer and NeuGc alpha 2-8NeuGc alpha 2-3Gal beta 1-3GalNAc beta 1-3Gal alpha 1-4Gal beta 1-4Glc beta 1-Cer, respectively. Since Z1 and Z2 were not detectable in the kidney of C57BL/10 and 6, BALB/c, and WHT/Ht mice, the mode of genetic control on Z1 and Z2 expression was examined by mating experiments between C57BL/10 or BALB/c and DBA/2. The results indicated that the expression of Z1 and Z2 is a recessive phenotype and that DBA/2 mice carry a single autosomal recessive gene. In the previous paper, we reported that DBA/2 mice do not express GL-Y (Gal beta 1-4(Fuc alpha 1-3)GlcNAc beta 1-6(Gal beta 1-3)Gb4Cer) but express GL-X (Gal beta 1-3Gb4Cer) in the kidney (J. Biochem. 101, 553-562 (1987)), and that a single autosomal defective gene responsible for the defective GL-Y expression was identified by genetic analysis (J. Biochem. 101, 563-568 (1987)).(ABSTRACT TRUNCATED AT 250 WORDS)
D000818:Animals; D015295:Antigens, Tumor-Associated, Carbohydrate; D002855:Chromatography, Thin Layer; D005786:Gene Expression Regulation; D006017:Glycolipids / Q000235:genetics*; D006028:Glycosphingolipids; D007120:Immunochemistry; D007668:Kidney / Q000032:analysis; D016256:Lewis X Antigen; D009682:Magnetic Resonance Spectroscopy; D008745:Methylation; D051379:Mice; D008815:Mice, Inbred Strains; D009439:Neuraminidase; D010641:Phenotype; D055746:Stage-Specific Embryonic Antigens
D015295:Antigens, Tumor-Associated, Carbohydrate; D006017:Glycolipids; D006028:Glycosphingolipids; D016256:Lewis X Antigen; D055746:Stage-Specific Embryonic Antigens; C052924:stage-specific embryonic antigen-3; C057257:globoganglioside Z1; C057258:globoganglioside Z2; D009439:Neuraminidase