Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency.
Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency.
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日本人群中分泌型α(1,2)-岩藻糖基转移酶基因缺陷的分子基础：由不等交叉产生的融合基因导致酶缺陷。
DOI：
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发表时间：
1996
影响因子：
9.8
通讯作者：
H. Kimura
中科院分区：
文献类型：
--
作者：
Y. Koda;M. Soejima;Yuhua Liu;H. Kimura
大约20%-25%的高加索人是非分泌者，由于分泌基因(FUT2)编码的α(1，2)岩藻糖基转移酶(Se酶)活性的缺乏，他们在分泌器官和分泌液中不表达可溶性A、B、H和Lewis b血型抗原。最近，FUT2和一个假基因被分离出来，在高加索人中也有报道一个由无义突变(G428A，SE1)引起的Se酶缺乏性等位基因(Se)。虽然我们未能找到SE1等位基因，但我们在日本人的Se酶缺陷等位基因中发现了一个错义突变(A385T，se2)和两个无义突变(C571T，SE3和C628T，SE4)。此外，我们还发现了一个融合基因，它由假基因的5‘-区和功能基因FUT2的3’-区组成，是一个Se酶缺乏的等位基因(SE5)。DNA序列分析表明，该基因的交叉区位于假基因的253-313碱基之间和FUT2的211-271碱基之间。这一发现表明，融合基因是由同源但不相等的交换产生的。对随机选择的141名日本人进行的人群研究表明，se2是日本人群中常见的Se酶缺乏等位基因。这些结果表明，Se酶缺乏的等位基因具有种族特异性。
About 20%-25% of Caucasian individuals are nonsecretors who fail to express soluble A, B, H, and Lewis b histo-blood group antigens in secretory organs and secretory fluids because of the absence of the Secretor gene (FUT2)-encoded alpha(1,2)-fucosyltransferase (Se enzyme) activity. Recently, the FUT2 and a pseudogene have been isolated, and an Se enzyme-deficient allele (se) caused by a nonsense mutation (G428A, se1) in Caucasians has also been reported. Although we were unable to find the se1 allele, we have found a missense mutation (A385T, se2) and two nonsense mutations (C571T, se3 and C628T, se4) in the Japanese Se enzyme-deficient alleles. In addition, we have found a fusion gene, which consisted of the 5'-region of the pseudogene and the 3'-region of the functional FUT2, as a Se enzyme-deficient allele (se5). The DNA sequence analysis of the fusion gene indicated that the crossover region corresponded to regions between bases 253 and 313 of the pseudogene and between bases 211 and 271 of the FUT2. This finding suggested that the fusion gene was generated by homologous but unequal crossover. A population study on 141 randomly selected Japanese has indicated that the se2 is a common Se enzyme-deficient allele in the Japanese population. The results suggest that Se enzyme-deficient alleles are race specific.
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影响因子：
3.3
作者：
A. Metzenberg;G. Wurzer;T. Huisman;O. Smithies
通讯作者：
A. Metzenberg;G. Wurzer;T. Huisman;O. Smithies
DOI：
10.1073/pnas.91.13.5843
发表时间：
1994-06-21
影响因子：
11.1
作者：
KELLY, RJ;ERNST, LK;LOWE, JB
通讯作者：
LOWE, JB
戈谢病中的葡萄糖脑苷脂酶融合基因。
DOI：
10.1172/jci114415
发表时间：
1990
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Zimran,A;Sorge,J;Gross,E;Kubitz,M;West,C;Beutler,E
通讯作者：
Beutler,E
影响因子：
4.8
作者：
ROUQUIER, S;LOWE, JB;GIORGI, D
通讯作者：
GIORGI, D