6-phosphogluconate dehydrogenase: hemizygous manifestation in a patient with leukemia

In a study of 41 patients with chronic myelocytic leukemia, two were found to have the 6-phosphogluconate dehydrogenase heterozygous phenotype A-B, and two had the phenotype characteristic of Pd(B) homozygosity. Since one of the two with Pd(B) homozygosity was the mother of two children with the A phenotype, it was presumed that she carried a Pd(A) gene not expressed in her blood cells. his was confirmed by electrophoretic analysis of her fibroblasts, which had the A-B phenotypic pattern. Gene deletion is considered to be the most likely explanation.     

黄瓜6-磷酸葡萄糖酸脱氢酶基因cDNA片段的克隆及表达分析

以黄瓜品种露丰为材料,根据已报道的6-磷酸葡萄糖酸脱氢酶基因(6PGDH)的保守氨基酸序列设计简并引物,利用RT-PCR技术获得黄瓜6PGDH的cDNA同源片段,命名为CSPG(登录号为EU815934)。该片段长度为1 207 bp,包含一个936 bp的开放阅读框(编码311个氨基酸)和271 bp的Poly A 3′非翻译区末端,无内含子;该基因编码的氨基酸序列与拟南芥、大豆、水稻、玉米、菠菜的6PGDH基因有75%以上的同源性。运用半定量RT-PCR技术对6PGDH基因的转录水平进行分析,结果表明:该基因在叶、根、茎中均有表达,高温胁迫下的表达量高于常温对照,说明6PGDH基因与热胁迫相关。     

正响应盐胁迫的甘蔗 6-磷酸葡萄糖脱氢酶基因的克隆

从甘蔗中克隆获得1个6PGDH基因的eDNA序列,记为Se6PGDH（登录号：KD21299）．该基因序列含有1个1467bp的完整开放阅读框,推导编码488个氨基酸残基．生物信息学分析可知,Sc6PGDH基因编码的蛋白分子质量为53．6561ku,为酸性稳定的亲水蛋白,含有信号肽,可能定位于内质网膜上,具有该类蛋白典型的保守结构域6PGD,且与分离自谷子、玉米和水稻的6-磷酸葡萄糖脱氢酶的氨基酸序列同源性分别高达96．11％、95．70％和93．24％,表明该基因在进化过程中比较保守．原核生物生长试验结果显示,甘蔗S-6PGDH基因的表达蛋白可以显著增强大肠杆菌Rosetta菌株的耐盐性,推测该基因可能参与了生物体对盐胁迫的应答过程．     

正响应盐胁迫的甘蔗6-磷酸葡萄糖脱氢酶基因的克隆

从甘蔗中克隆获得1个6PGDH基因的cDNA序列,记为Sc6PGDH(登录号:KF921299).该基因序列含有1个1467 bp的完整开放阅读框,推导编码488个氨基酸残基.生物信息学分析可知,Sc6PGDH基因编码的蛋白分子质量为53.6561 ku,为酸性稳定的亲水蛋白,含有信号肽,可能定位于内质网膜上,具有该类蛋白典型的保守结构域6PGD,且与分离自谷子、玉米和水稻的6-磷酸葡萄糖脱氢酶的氨基酸序列同源性分别高达96.11%、95.70%和93.24%,表明该基因在进化过程中比较保守.原核生物生长试验结果显示,甘蔗Sc6PGDH基因的表达蛋白可以显著增强大肠杆菌Rosetta菌株的耐盐性,推测该基因可能参与了生物体对盐胁迫的应答过程.     

红麻6-磷酸葡萄糖酸脱氢酶(6PDGH)基因克隆及RNAi载体构建

[目的]克隆红麻不育系和保持系6-磷酸葡萄糖酸脱氢酶(6PDGH)基因,并构建其RNAi载体,为进一步研究其在红麻花药发育中的功能奠定基础.[方法]根据红麻花药转录组高通量测序数据结果和生物信息学方法获得6PDGH基因全长cDNA拼接序列,分别以红麻不育系(P3A)和保持系(P3B)的花药反转录cDNA及总DNA为模板克隆红麻6PGDH基因全长.依据RNAi载体设计原则,选取红麻6PGDH基因cDNA序列中段389bp的特异片段做为RNA干扰片段,构建红麻6PGDH因的RNAi载体.[结果]克隆获得的红麻不育系(P3A)和保持系(P3B)花药6PGDH基因全长均为1751 bp,均包含1458bp的开放阅读框,编码485个氨基酸残基,无内含子;其碱基序列在不育系和保持系中仅存在两个碱基差异.该基因氨基酸序列(GenBank登录号KF964027)与拟南芥、玉米、大豆、苜蓿、三角叶杨、蓖麻的6PDGH同源性分别为75.07%、84.57%、86.50%、87.24%、91.19%和92.01%.成功构建了红麻6PGDH基因的RNAi载体,获得了干扰表达载体pART27-pKANNIBAL-R1+2.[结论]成功克隆获得红麻6PGDH基因全长序列,构建的干扰表达载体可用于红麻6PGDH基因的功能研究.     

URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit

The polypeptide encoded in URF6, the last unassigned reading frame of human mitochondrial DNA, has been identified with antibodies to peptides predicted from the DNA sequence. Antibodies prepared against highly purified respiratory chain NADH dehydrogenase from beef heart or against the cytoplasmically synthesized 49-kilodalton iron-sulfur subunit isolated from this enzyme complex, when added to a deoxycholate or a Triton X-100 mitochondrial lysate of HeLa cells, specifically precipitated the URF6 product together with the six other URF products previously identified as subunits of NADH dehydrogenase. These results strongly point to the URF6 product as being another subunit of this enzyme complex. Thus, almost 60% of the protein coding capacity of mammalian mitochondrial DNA is utilized for the assembly of the first enzyme complex of the respiratory chain. The absence of such information in yeast mitochondrial DNA dramatizes the variability in gene content of different mitochondrial genomes.     

Alpha-glycerophosphate dehydrogenase and glucose-6-phosphate dehydrogenase in tissues of the Weddell seal

High activity of alpha-glycerophosphate dehydrogenase and low activity of glucose-6-phosphate dehydrogenase in adipose tissue of Weddell seals suggest that neutral fat may be assembled there from exogenous sources of fatty acids. Low activity of glucose-6-phosphate dehydrogenase in other tissues tested precludes assignment of the function of fatty-acid synthesis to any specific tissue and emphasizes uniqueness of adipose mass in seals.     

Glucose-6-phosphate dehydrogenase: homologous molecules in deer mouse and man

Two forms of glucose-6-phosphate dehydrogenase, A and B, have been reported in deer mouse tis sues. The B enzyme, which showed autosomally controlled polymorphism, is now found to be equally active to ward glucose-6-phosphate and galac tQse-6- phosphate; the A enzyme is specific for the former. Human and horse livers also have two forms of glucose-6-phosphate dehydrogenase which exhibit the same substrate spe cifities as those in the deer mouse. A wide variety of electrophoretic patterns was seen in the human galactose-active enzyme.     

Athens variant of glucose-6-phosphate dehydrogenase

A variant of glucose-6-phosphate dehydrogenase (G6PD), characterized by slower than normal electrophoretic migration and associated with mild deficiency of G6PD in the red cells, was detected in two unrelated Greek males. Electrophoretic, chromatographic, and enzymologic study indicated that the new mutant is structurally different from normal G6PD (B+) and from the Mediterranean variant associated with red-cell enzyme deficiency (B-). Convincing electrophoretic separation of the new variant from the normal B+ and the Mediterranean B- enzymes was achieved only by detailed electrophoretic study in different buffer systems and conditions.     

小飞鼠NADH脱氢酶亚基1基因(ND1)的生物信息学分析

NADH脱氢酶亚基1(ND1)是线粒体膜呼吸链NADH脱氢酶(复合物Ⅰ)的核心亚基,其作用是将电子从NADH转移到呼吸链,为研究小飞鼠(Pteromys volans)ND1基因的功能,利用生物信息学方法对ND1的理化性质、亲水/疏水性、二级结构、三级结构、跨膜结构、蛋白质修饰位点及同源性等进行了分析和预测.结果表明,...     

苎麻NAD7基因的克隆与分析

线粒体中泛醌氧化还原酶的7亚基基因(NAD7)是与植物呼吸代谢和植物细胞质雄性不育相关的重要基因之一。本研究利用NAD7的保守序列设计引物,用RT-PCR方法克隆了苎麻(Boehmeria nivea)NAD7的cDNA片段,其长度为969 bp,编码322个氨基酸。序列比对表明该cDNA序列及预测的蛋白序列与拟南芥、油菜有98%的同源性。聚类分析表明苎麻NAD7基因的进化处在很古老的地位。为深入研究苎麻雄性不育的分子生物学机理提供依据。     

Erythrocyte acid phosphomonesterase and glucose-6-phosphate dehydrogenase deficiency in Caucasians

Caucasian patients with erythrocyte glucose-6-phosphate dehydrogenase deficiency also have a deficiency in erythrocyte acid phosphomonoesterase. This acid phosphomonoesterase deficiency is not present in Negroes with the glucose-6-phosphate dehydrogenase deficiency.     

Glucose-6-phosphate dehydrogenase mosaicism: utilization as a cell marker in the study of leiomyomas

The sex-linked electrophoretic variants A and B of glucose-6-phosphate dehydrogenase were studied in 86 samples of myometrium and 27 leiomyomas from five heterozygous women. All but one sample of myometrium had both A and B bands in equal or nearly equal amounts. In contrast to this, all of the leiomyomas had either an A band or a B band. Both A and B tumors were found in all uteri. These findings are consistent with the hypothesis that these tumors arose from single cells.     

Glucose-6-phosphate dehydrogenase deficient red cells: resistance to infection by malarial parasites

Erythrocyte mosaicism occurs in females heterozygous for glucose-6-phosphate dehydrogenase deficiency. In blood from female children with acute Plasmodium falciparum malaria the parasite rate was 2 to 80 times higher in normal than in deficient erythrocytes. This may be the mechanism whereby the gene for glucose-6-phosphate dehydrogenase deficiency confers selective advantage against malaria to heterozygous females, and thus may have attained the polymorphic frequency occurring in populations living in areas with endemic malaria.     

Glucose-6-phosphate dehydrogenase and detoxification of hydrogen peroxide in human erythrocytes

Human erythrocytes with deficient glucose-6-phosphate dehydrogenase levels are unable to maintain their levels of reduced glutathione in the presence of low-level, steady-state concentrations of hydrogen peroxide. This finding has bearing on the biochemical mechanisms of drug-induced hemolytic anemia.     

Air lead: relation to lead in blood of black school children deficient in glucose-6-phosphate dehydrogenase

Forty-four black children at two elementary schools within 0.7 mile of a battery plant had significantly higher (P < .001) concentrations of lead in their bloods (34.1 +/- 9.7, micrograms per 100 milliliters, mean +/- standard deviation) than 122 students (26.3 +/- 7.1) at seven schools 1 to 3 miles distant; 5 months later there was a comparable difference between red cell lead values (54.1 +/- 18.5 versus 37.4 +/- 12.6). Among the blacks, those deficient in glucose-6-phosphate dehydro-genase had a higher (P < .005) concentration of lead in the blood after correction for anemia (32.9 +/- 9.7) than the nondeficient (25.7 +/- 8.8), and a higher concentration in the red cells (47.3 +/- 14.7 as compared to 35.6 +/- 15.8, P < .001); the enzyme effect was independent of geographic location.     

Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man

Glucose-6-phosphate dehydrogenase in erythrocytes of the Negro type associated with enzyme deficiency (A(-)) was separated by chromatography on a carboxymethyl-Sephadex column from the electrophoretically indistinguishable Negro variant with normal enzyme activity (A(+)). Quantitative immunologic neutralization tests indicated that the A(-) enzyme had about the same enzymatic and serological activity as the A(+) and the normal (B(+)) enzymes. The enzyme activity of the A(-) variant in young erythrocytes was similar to that in young cells from normal individuals, although the activity of the A(-) variant in unfractionated red cells was 10 to 15 percent of normal. These data indicate that the basic defect in the variant enzyme (A(-)) is a structural mutation which causes more rapid degradation of the enzyme during erythrocyte aging.     

Sex-linkage of erythrocyte glucose-6-phosphate dehydrogenase in two species of wild hares

Glucose-6-phosphate dehydrogenase specific to the erythrocytes of each of two wild hares found in Europe was discerned by starch-gel electrophoresis at pH 7.0 and pH 8.6. The single, sharp band of the dehydrogenase of Lepus europaeus was faster than that of L. timidus, at both pH levels. The sex-linkage of this enzyme was tested through reciprocal hybrids between the two species. Each male hybrid had a single band of enzyme identical with that of its mother, while both parental types of this enzyme coexisted in female hybrids. Thus, sex-linkage of glucose-6-phosphate dehydrogenase has been suggested not only in man and in the family Equidae, but now in the family Leporidae of placental mammals as well.