J. Biochem, 1988, Vol. 103, No. 4 722-729
© 1988 Japanese Biochemical Society
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A Single Autosomal Gene Controlling the Expression of the Extended Globoglycolipid Carrying SSEA-1 Determinant Is Responsible for the Expression of Two Extended Globogangliosides1
* Departments of Membrane Biochemistry, Tokyo Metropolitan Institute of Medical Science Bunkyo-ku, Tokyo 113
** Departments of Molecular Physiology, Tokyo Metropolitan Institute of Medical Science Bunkyo-ku, Tokyo 113
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
2-3Galß1-3GalNAcß1-3Gal
1-4Galß1-4Glcß1-Cer and NeuGc
2-8NeuGc
2-3Galß1-3GalNAcß1-3Gal
1-4Galß1-4Glcß1-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 (Galß1-4(Fuc
1-3)GlcNAcß1-6(Galß1-3)Gb4 Cer) but express GL-X (Galß1-3Gb4Cer) in the kidney (J. Biochem. 101, 553562 (1987)), and that a single autosomal defective gene responsible for the defective GL-Y expression was identified by genetic analysis (J. Biochem. 101, 563568 (1987)). In the present study, the results of analysis of the expression of GL-Y, Z1, and Z2 in the kidney of backcross mice indicated that 42/83 mice did not express GL-Y but expressed GL-X, Z1, and Z2, and the other 41 mice expressed GL-Y but neither Z1 nor Z2. The absence of a single exception in 83 mice, i.e., mice having either one of the following two phenotypes, GL-Y(), Z1(), and Z2() or GL-Y(+), Z1(+), and Z2(+), indicates that either a single recessive gene controls the expression of GL-Y, Z1, and Z2, or possibly two genes linked at a distance of less than 1.2 (= 1/84) centimorgan are responsible. We propose a hypothesis to explain the mode of genetic control of the expression of these glycolipids.
1This work was supported in part by Grants-in Aid from the Ministry of Education, Science and Culture of Japan, and Special Coordination Funds for Promoting Science and Technology from the Science and Technology Agency of Japan.
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