Kono M, Sekine M, Nakamura K, Hashimoto Y, Seyama Y, Yamakawa T, Suzuki A
Department of Membrane Biochemistry, Tokyo Metropolitan Institute of Medical Science.
J Biochem. 1991 Jan;109(1):132-6. doi: 10.1093/oxfordjournals.jbchem.a123333.
We have reported that WHT/Ht mice express neither GM2(NeuGc) nor GM1(NeuGc) in the liver or erythrocytes due to a defect on the Ggm-2 gene, which was demonstrated to control the activity of UDP-GalNAc:GM3(NeuGc) N-acetylgalactosaminyltransferase in mouse liver, and, in addition, WHT/Ht mice do not express a detectable amount of GM2(NeuGc) but do express GM1(NeuGc) in tissues other than the liver and erythrocytes, such as the spleen, thymus, heart, lung, kidney, and testis [Nakamura et al. (1988) J. Biochem. 103, 201-208]. In order to determine whether the phenotype of WHT/Ht mice exhibiting an undetectable amount of GM2(NeuGc) in these tissues is genetically controlled or not, we analyzed the expression of gangliosides in the progeny obtained on backcross mating between (BALB/c X WHT/Ht)F1 and WHT/Ht mice, and in a GM2(NeuGc) congenic mouse, WHT.C. Concerning the expression of GM2(NeuGc) in the liver, lung, and kidney, 102 backcross mice could be segregated into two types. One type expressed a detectable amount of GM2(NeuGc) in the liver, lung, and kidney, and the other type did not. The ratio of the numbers of mice exhibiting these two types was 42: 60, indicating that the two phenotypes were genetically determined by the involvement of a single autosomal gene. Recombination as to GM2(NeuGc) expression in the liver, lung, and kidney was not detected among the 102 backcross mice. Analysis of the GM2(NeuGc) congenic mouse indicated that a detectable amount of GM2(NeuGc) was expressed in the liver, erythrocytes, lung, kidney, heart, spleen, and small intestine.(ABSTRACT TRUNCATED AT 250 WORDS)
我们曾报道，由于Ggm - 2基因存在缺陷，WHT/Ht小鼠的肝脏或红细胞中既不表达GM2（NeuGc）也不表达GM1（NeuGc），该基因被证明可控制小鼠肝脏中UDP - GalNAc:GM3（NeuGc）N - 乙酰半乳糖胺基转移酶的活性。此外，WHT/Ht小鼠在肝脏和红细胞以外的组织，如脾脏、胸腺、心脏、肺、肾脏和睾丸中，不表达可检测量的GM2（NeuGc），但表达GM1（NeuGc）[中村等人（1988年）《生物化学杂志》103卷，201 - 208页]。为了确定WHT/Ht小鼠在这些组织中呈现不可检测量GM2（NeuGc）的表型是否受遗传控制，我们分析了（BALB/c×WHT/Ht）F1与WHT/Ht小鼠回交后代以及GM2（NeuGc）同源基因小鼠WHT.C中神经节苷脂的表达情况。关于肝脏、肺和肾脏中GM2（NeuGc）的表达，102只回交小鼠可分为两种类型。一种类型在肝脏、肺和肾脏中表达可检测量的GM2（NeuGc），另一种类型则不表达。呈现这两种类型的小鼠数量之比为42:60，表明这两种表型是由单个常染色体基因的参与而遗传决定的。在102只回交小鼠中未检测到肝脏、肺和肾脏中GM2（NeuGc）表达的重组情况。对GM2（NeuGc）同源基因小鼠的分析表明，在肝脏、红细胞、肺、肾脏、心脏、脾脏和小肠中表达了可检测量的GM2（NeuGc）。（摘要截短于250字）
