BACKGROUND & AIMS: :Maternal diabetes can cause fetal macrosomia and increased risk of obesity, diabetes, and cardiovascular disease in adulthood of the offspring. Although increased transplacental lipid transport could be involved, the impact of maternal type 1 diabetes on molecular mechanisms for lipid transport in placenta is largely unknown. To examine whether maternal type 1 diabetes affects placental lipid metabolism, we measured lipids and mRNA expression of lipase-encoding genes in placentas from women with type 1 diabetes (n = 27) and a control group (n = 21). The placental triglyceride (TG) concentration and mRNA expression of endothelial lipase (EL) and hormone-sensitive lipase (HSL) were increased in placentas from women with diabetes. The differences were more pronounced in women with diabetes and suboptimal metabolic control than in women with diabetes and good metabolic control. Placental mRNA expression of lipoprotein lipase and lysosomal lipase were similar in women with diabetes and the control group. Immunohistochemistry showed EL protein in syncytiotrophoblasts facing the maternal blood and endothelial cells facing the fetal blood in placentas from both normal women and women with diabetes. These results suggest that maternal type 1 diabetes is associated with TG accumulation and increased EL and HSL gene expression in placenta and that optimal metabolic control reduces these effects.

背景与目标： 孕产妇糖尿病会导致胎儿巨大儿，并在后代成年后增加肥胖，糖尿病和心血管疾病的风险。尽管可能涉及胎盘脂质转运的增加，但母体1型糖尿病对胎盘脂质转运分子机制的影响尚不清楚。为了检查母体1型糖尿病是否影响胎盘脂质代谢，我们测量了1型糖尿病女性（n = 27）和对照组（n = 21）的胎盘中脂质和脂肪酶编码基因的mRNA表达。糖尿病女性胎盘中胎盘甘油三酸酯（TG）的浓​​度和内皮脂肪酶（EL）和激素敏感性脂肪酶（HSL）的mRNA表达增加。糖尿病和代谢控制欠佳的女性比糖尿病和代谢控制良好的女性更明显。糖尿病女性和对照组胎盘脂蛋白脂肪酶和溶酶体脂肪酶的mRNA表达相似。免疫组织化学显示，正常妇女和糖尿病妇女的胎盘中母体血液中的合体滋养层细胞和胎儿血中的内皮细胞中的EL蛋白。这些结果表明，母亲1型糖尿病与TG积累和胎盘中EL和HSL基因表达增加有关，最佳的代谢控制可降低这些影响。

BACKGROUND & AIMS: BACKGROUND:Germ cells are the only cell type that can penetrate from one generation to next generation. At the early embryonic developmental stages, germ cells originally stem from primordial germ cells, and finally differentiate into functional gametes, sperm in male or oocyte in female, after sexual maturity. This study was conducted to investigate a large-scale expressed sequence tag (EST) analysis in chicken PGCs and compare the expression of the PGC ESTs with that of embryonic gonad. RESULTS:We constructed 10,851 ESTs from a chicken cDNA library of a collection of highly separated embryonic PGCs. After chimeric and problematic sequences were filtered out using the chicken genomic sequences, there were 5,093 resulting unique sequences consisting of 156 contigs and 4,937 singlets. Pearson chi-square tests of gene ontology terms in the 2nd level between PGC and embryonic gonad set showed no significance. However, digital gene expression profiling using the Audic's test showed that there were 2 genes expressed significantly with higher number of transcripts in PGCs compared with the embryonic gonads set. On the other hand, 17 genes in embryonic gonads were up-regulated higher than those in the PGC set. CONCLUSION:Our results in this study contribute to knowledge of mining novel transcripts and genes involved in germline cell proliferation and differentiation at the early embryonic stages.

背景与目标： 背景：生殖细胞是唯一可以从一代渗透到下一代的细胞类型。在胚胎发育的早期阶段，生殖细胞最初起源于原始生殖细胞，并在性成熟后分化为功能性配子，雄性精子或雌性卵母细胞。进行这项研究以调查鸡PGC中的大规模表达序列标签（EST）分析，并将PGC EST与胚胎性腺的表达进行比较。
结果：我们从鸡的高度分离的胚胎PGC的cDNA文库中构建了10,851个EST。使用鸡基因组序列过滤掉嵌合和有问题的序列后，共有5,093个得到的独特序列，由156个重叠群和4,937个单重态组成。 PGC和胚胎性腺集之间第二级的基因本体项的皮尔逊卡方检验没有意义。但是，使用Audic's测试进行的数字基因表达谱分析显示，与胚胎性腺相比，PGC中有2个基因表达显着，且转录本数量更高。另一方面，胚胎性腺中的17个基因上调的程度高于PGC中的基因。
结论：我们在这项研究中的结果有助于了解在胚胎早期阶段涉及生殖细胞增殖和分化的新转录本和基因。

BACKGROUND & AIMS: :The goal of this study was to establish and validate a protocol for preparing bovine cardiomyocytes from slaughterhouse material for nuclear transfer experiments. The cardiomyocyte was selected because it is a terminally differentiated cell and strongly expresses a unique subset of genes which can be monitored during the reprogramming period. A total of 39 trials were conducted, and an optimized protocol was developed yielding individual contractile cardiomyocytes from 3-5-month-old bovine fetuses The basic protocol involves stabilization of bovine heart tissue for transportation from the slaughterhouse to the laboratory by perfusion with Custodiol. This was followed by an enzymatic dissociation with collagenase in calcium-free medium and yielded individual contractile rod-shaped cardiomyocytes. Subsequent addition of Ca2+ caused the cardiomyocytes to round up which was an essential pre-condition for drawing them into glass transfer pipettes for delivery into the perivitelline space and for efficient electrofusion with cytoplasts derived from in vitro matured bovine oocytes. The use of cardiomyocytes maintained at 37 degrees C in nuclear transfer, resulted in a significantly reduced proportion of blastocysts compared to adult fibroblasts (14.0% versus 32.7%). Storage of cardiomyocytes at 4 degrees C prior to nuclear transfer was not compatible with blastocyst development. It is expected that this system will be valuable for investigating the reprogramming of gene expression which occurs after somatic cell nuclear transfer.

背景与目标： ：这项研究的目的是建立和验证从屠宰场材料制备牛心肌细胞用于核移植实验的方案。选择心肌细胞是因为它是终末分化细胞，并且强烈表达可以在重编程期间监测的独特基因子集。总共进行了39次试验，并开发了优化的方案，以从3-5个月大的牛胎儿中产生单个可收缩的心肌细胞。基本方案涉及稳定牛心脏组织，以便通过灌注邻苯二酚从屠宰场运送到实验室。随后在无钙培养基中用胶原酶进行酶解，产生单个可收缩的杆状心肌细胞。随后添加Ca2导致心肌细胞聚集，这是将它们吸引到玻璃移液管中以递送到玻璃体腔中并与源自体外成熟牛卵母细胞的细胞质进行有效电融合的必要先决条件。与成年成纤维细胞相比，使用维持在37摄氏度的心肌细胞进行核移植，导致胚泡的比例大大降低（分别为14.0％和32.7％）。核移植前将心肌细胞储存在4摄氏度下与胚泡发育不兼容。预期该系统对于研究在体细胞核转移后发生的基因表达的重编程将是有价值的。

BACKGROUND & AIMS: :The chromosome of Streptomyces coelicolor A3(2), a model organism for the genus Streptomyces, contains a cryptic type I polyketide synthase (PKS) gene cluster which was revealed when the genome was sequenced. The ca. 54-kb cluster contains three large genes, cpkA, cpkB and cpkC, encoding the PKS subunits. In silico analysis showed that the synthase consists of a loading module, five extension modules and a unique reductase as a terminal domain instead of a typical thioesterase. All acyltransferase domains are specific for a malonyl extender, and have a B-type ketoreductase. Tailoring and regulatory genes were also identified within the gene cluster. Surprisingly, some genes show high similarity to primary metabolite genes not commonly identified in any antibiotic biosynthesis cluster. Using western blot analysis with a PKS subunit (CpkC) antibody, CpkC was shown to be expressed in S. coelicolor at transition phase. Disruption of cpkC gave no obvious phenotype.

背景与目标： ：Streptomyces coelicolor A3（2）（Streptomyces属的一种模式生物）的染色体包含一个隐秘的I型聚酮化合物合酶（PKS）基因簇，该基因簇在对基因组进行测序时就可以显示出来。的ca。 54kb的簇包含三个大基因，编码PKS亚基的cpkA，cpkB和cpkC。在计算机分析中，该合成酶由一个加载模块，五个扩展模块和一个独特的还原酶（而不是典型的硫酯酶）作为末端结构域组成。所有酰基转移酶结构域都对丙二酰增量剂具有特异性，并具有B型酮还原酶。还可以在基因簇中鉴定出剪裁和调节基因。出乎意料的是，一些基因显示出与任何抗生素生物合成簇中未普遍鉴定的初级代谢产物基因高度相似。使用具有PKS亚基（CpkC）抗体的Western印迹分析，显示CpkC在过渡阶段在天蓝色链霉菌中表达。 cpkC的破坏没有明显的表型。

BACKGROUND & AIMS: PROBLEM:Thrombophilia has been associated with poor obstetrical outcomes. To determine the association of specific inherited thrombophilias and recurrent pregnancy loss, 10 thrombophilic genes were investigated. METHOD OF STUDY:A total of 550 women with a history of recurrent pregnancy loss had buccal swabs taken for DNA analyses of the following gene mutations: factor V G1691A, factor V H1299R (R2), factor V Y1702C, factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C. The frequencies of these mutations were compared with controls published in the literature. RESULTS:When examined individually, PAI-1 4G/5G (P = 0.009), factor XIII V34L (P < 0.0001), and homozygous MTHFR C667T (P < 0.0001) correlated significantly with recurrent pregnancy loss compared with controls. The frequency of the factor V Y1702C mutation was extremely low in patients and controls; thus, this gene was removed from further calculations. The remaining six mutated genes, when analyzed cumulatively, also corresponded with recurrent pregnancy loss (P < 0.0001). CONCLUSION:A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.

背景与目标： 问题：血友病与产科预后不良有关。为了确定特定遗传性血栓形成症与复发性流产的关联，研究了10个血栓形成性基因。
研究方法：总共550名有反复性流产史的妇女接受了口腔拭子以进行以下基因突变的DNA分析：因子V G1691A，因子V H1299R（R2），因子V Y1702C，因子II凝血酶原G20210A，因子XIII V34L，β-纤维蛋白原-455G> A，PAI-1 4G / 5G，HPA1a / b（L33P），亚甲基四氢叶酸还原酶（MTHFR）C677T，MTHFR A1298C。将这些突变的频率与文献中发表的对照进行了比较。
结果：当单独检查时，与对照组相比，PAI-1 4G / 5G（P = 0.009），XIII因子V34L（P <0.0001）和纯合MTHFR C667T（P <0.0001）与复发性流产显着相关。在患者和对照组中，V Y1702C因子突变的频率非常低。因此，该基因已从进一步的计算中删除。当进行累积分析时，剩下的六个突变基因也与复发性流产相对应（P <0.0001）。
结论：一组血栓形成基因突变，由因子V G1691A，因子V H1299R（R2），因子II凝血酶原G20210A，因子XIII V34L，β-纤维蛋白原-455G> A，PAI-1 4G / 5G，HPA1 a / b（ L33P），MTHFR C677T和MTHFR A1298C可以识别有复发性流产风险的个体。

BACKGROUND & AIMS: PURPOSE:To identify genes preferentially expressed in the stem-cell-rich limbal epithelium of the rat cornea. METHODS:The limbal and central corneal epithelial cells of 6-week-old rats were isolated by microdissection. Serial analysis of gene expression (SAGE) libraries were constructed and analyzed, and in situ hybridization, reverse transcription-polymerase chain reaction (RT-PCR) and cDNA cloning were conducted by conventional procedures. RESULTS:The rat limbal and central corneal epithelial SAGE libraries consisted of 41,894 and 40,691 tags, respectively. After annotation, this was reduced to 759 transcripts specific for the limbal library and 844 transcripts specific for the central corneal library; 2292 transcripts overlapped. Transcripts encoding proteins with metabolic functions comprised the major functional category in both libraries. In situ hybridization and/or RT-PCR results of 12 of the most abundant, highly enriched transcripts in the limbal epithelium were in general agreement with the SAGE data and showed that these proteins are also expressed in the conjunctival epithelium. Interesting limbal-enriched transcripts encode WDNM1-like protein (similar to WDNM1/Expi, a putative secreted proteinase and inhibitor of metastasis), mesothelin (a cancer marker), marapsin (a trypsin-like serine protease that may control cell growth and migration), K4 and K15 (both cytokeratins), and membrane-spanning four-domain subfamily A member 8B. WDNM1-like protein was cloned and confirmed as a member of the four-disulfide core family. CONCLUSIONS:The SAGE results extend the database of genes expressed in the rodent cornea and suggest an association between several genes preferentially expressed in the limbal epithelium with cellular proliferation and migration.

背景与目标： 目的：鉴定在大鼠角膜的富含干细胞的角膜缘上皮细胞中优先表达的基因。
方法：采用显微解剖技术分离6周龄大鼠角膜缘和角膜上皮细胞。构建并分析基因表达（SAGE）库的序列分析，并通过常规方法进行原位杂交，逆转录-聚合酶链反应（RT-PCR）和cDNA克隆。
结果：大鼠角膜缘和角膜上皮SAGE文库分别由41,894和40,691个标签组成。注释后，该数目减少为角膜缘文库特异的759个转录物和中央角膜文库特异的844个转录物。 2292个成绩单重叠。编码具有代谢功能的蛋白质的转录本在两个文库中均属于主要功能类别。角膜缘上皮细胞中12种最丰富，高度富集的转录本的原位杂交和/或RT-PCR结果与SAGE数据基本一致，表明这些蛋白也在结膜上皮细胞中表达。有趣的角膜缘丰富的转录本编码WDNM1样蛋白（类似于WDNM1 / Expi，一种推测的分泌蛋白酶和转移抑制剂），间皮素（一种癌症标志物），marapsin（一种胰蛋白酶样丝氨酸蛋白酶，可以控制细胞的生长和迁移）。 ，K4和K15（均为细胞角蛋白）和跨膜四结构域亚家族A成员8B。克隆了类似WDNM1的蛋白质，并确认其为四-二硫键核心家族的成员。
结论：SAGE结果扩展了在啮齿动物角膜中表达的基因数据库，并暗示了在角膜缘上皮中优先表达的几个基因与细胞增殖和迁移之间的关联。

BACKGROUND & AIMS: BACKGROUND:This study was undertaken to obtain differentially expressed genes related to human glioma by cDNA microarray and the characterization of a novel full-length gene. METHODS:Total RNA was extracted form human glioma and normal brain tissue, and mRNA was used as a probe. The results of hybridization procedure were scanned with the computer system. The gene named 507E08 cone was subsequently analyzed by northern blot, bioinformatic approach, and protein expression. RESULTS:Fifteen differentially expressed genes were obtained from human glioma by hybridization and scanning for four times. Northern blot analysis confirmed that the 507E08 clone was low expressed in human brain tissue and over expressed in human glioma tissues. The analysis of BLASTn and BLASTx showed that the 507E08 clone was a novel full-length gene, which codes 203 amino acid of protein and is called human ribosomal protein 14.22 gene. The nucleotide sequence had been submitted to the GenBank with the accession number of AF329277. After expression in E. coli., protein yielded a major band of apparent molecular mass 22 kDa on an SDS-PAGE gel. CONCLUSIONS:cDNA microarray technology can be successfully used to identify differentially expressed genes. The novel full-length gene of human ribosomal protein 13.22 may be correlated with the development of human glioma.

背景与目标： 背景：本研究旨在通过cDNA微阵列技术获得与人神经胶质瘤相关的差异表达基因，并鉴定一个新的全长基因。
方法：从人脑胶质瘤和正常脑组织中提取总RNA，并以mRNA为探针。杂交程序的结果用计算机系统扫描。随后通过Northern印迹，生物信息学方法和蛋白质表达来分析名为507E08视锥细胞的基因。
结果：通过杂交和扫描4次，从人脑胶质瘤中获得了15个差异表达基因。 Northern印迹分析证实507E08克隆在人脑组织中低表达而在人脑胶质瘤组织中高表达。对BLASTn和BLASTx的分析表明，507E08克隆是一个新颖的全长基因，其编码蛋白质的203个氨基酸，被称为人核糖体蛋白质14.22基因。该核苷酸序列已提交给GenBank，登录号为AF329277。在大肠杆菌中表达后，蛋白质在SDS-PAGE凝胶上产生一条表观分子量为22 kDa的主带。
结论：cDNA微阵列技术可成功用于鉴定差异表达的基因。人核糖体蛋白13.22的新的全长基因可能与人脑胶质瘤的发展有关。

BACKGROUND & AIMS: :The prevalence of mRNAs coding for the sea urchin embryo regulatory factors P3A1 and P3A2 was measured by single-strand probe excess solution hybridization. P3A1 and P3A2 are not homologous proteins, though they both bind specifically to a particular cis-regulatory sequence. Interaction at this target site is known to be required for lineage-specific expression of an aboral ectoderm-specific gene and probably for several other genes as well. Genome blot hybridizations show that both factors are encoded by single-copy genes. Maternal mRNAs for both factors are present at less than 10(3) molecules per egg, which places them in the rare mRNA class. During development to the mesenchyme blastula stage, the amount of P3A1 mRNA (per embryo) increases severalfold while that of P3A2 remains approximately constant. Specification of the aboral ectoderm founder cells and of their initial patterns of gene expression must occur during early to mid-cleavage stage. Therefore, the regulatory proteins needed for this process must be produced by this stage. We show that the quantities of the P3A proteins that can be synthesized from the numbers of mRNA molecules present in the large blastomeres of the early embryo are sufficient to be functional, because these proteins will be accumulated in the nuclei. Thus maternal P3A1 or P3A2 proteins asre not required, nor were these detected in earlier studies. Furthermore, differential spatial (as well as temporal) distribution of both of these newly synthesized factor species could result from the unequal cleavage pattern utilized in the sea urchin egg.

背景与目标： ：通过单链探针过量溶液杂交测量编码海胆胚胎调节因子P3A1和P3A2的mRNA的发生率。尽管P3A1和P3A2都与特定的顺式调控序列特异性结合，但它们不是同源蛋白。已知该靶标位点的相互作用是特定于宗族的外胚层特异性基因的谱系表达所必需的，并且可能还需要其他几个基因。基因组印迹杂交显示这两个因子均由单拷贝基因编码。每个鸡蛋的母体mRNA均少于10（3）个分子，这使它们处于罕见的mRNA类中。在发育到间充质囊阶段期间，P3A1 mRNA（每个胚胎）的数量增加了几倍，而P3A2的数量则保持大致恒定。胎盘外胚层基础细胞及其基因表达的初始模式的规范必须在卵裂早期至中期进行。因此，必须在该阶段生产该过程所需的调节蛋白。我们表明，可以从早期胚胎的大型卵裂球中存在的mRNA分子数量合成的P3A蛋白数量足以发挥功能，因为这些蛋白将积聚在细胞核中。因此，不需要母体P3A1或P3A2蛋白，也不需要在早期研究中检测到这些蛋白。此外，这两种新合成的因子物种在空间（以及时间）上的差异分布可能是由于海胆卵中使用的不均等卵裂模式造成的。

BACKGROUND & AIMS: :This minireview considers the possibility that there is a correlation between the slow rate of morphological change and speciation events that has been occurred within the lungfish lineage since the Permian period, and the apparent slow rate of divergence in the amino acid sequences of lungfish opioid precursor sequences. The status of lungfish as "living fossils" is considered.

背景与目标： ：本篇小型综述认为，二叠纪以来在肺鱼谱系内发生的形态变化和物种形成的缓慢速率与形态上的缓慢变化与肺鱼阿片样物质前体的氨基酸序列的明显缓慢速率之间存在相关性的可能性序列。考虑到肺鱼作为“活化石”的地位。

BACKGROUND & AIMS: :We report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,XY,der(15;18)(q10;q10). The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation.

背景与目标： ：我们报告的患者具有独特的功能组合，包括小头畸形；智力低下;额叶发育不良；垂体发育不全甲状腺功能减退;普遍性脱发;单上颌中切牙；牛头牙症pa中纵向开槽的指甲；和脊柱侧弯。发现他的不平衡核型为45，XY，der（15; 18）（q10; q10）。异常群似乎代表着一种连续的基因综合征，这种综合征至少部分地是由于TGIF的缺失和负责遗传性单纯性遗传不足的基因引起的。我们患者的表型与其他报道的del（18p）患者不同。可能的解释包括（1）不同缺失区域的作用，（2）由附近基因引起的位置作用，或（3）由染色体易位引起的不同基因的中断。

BACKGROUND & AIMS: CD4+ anti-tumor T cells reactive with rat adenocarcinoma 13762 kill tumor in vitro and cause regression of tumor in vivo. The role of various host immune cells in CD4+ T-cell-mediated tumor elimination in vivo was investigated by adoptive transfer of anti-tumor T cell clones to recipients that were selectively depleted of individual immune cell types. By these means, macrophages and NK cells were found to be required for tumor killing. Depletion of host CD4+ T cells, CD8+ T cells, or neutrophils was without effect on tumor elimination by anti-tumor T cells. An essential role for antigen receptor-negative NK cells is likely dependent upon secretion of IFN-gamma from NK cells since treatment of tumor recipients with anti-IFN-gamma antibody prior to adoptive transfer and tumor challenge abrogated T cell killing, resulting in progressive tumor growth. Viability of adenocarcinoma 13762 or anti-tumor T cells was unaffected by treatment with either IFN-gamma or anti-IFN-gamma antibody in vitro, but cell surface MHC class II expression was induced in tumor cells by exposure to IFN-gamma. In addition, tumor cells were isolated from tumor-bearing animals by absorption using anti-MHC class II antibody, demonstrating that 13762 tumor expresses cell surface MHC class II antigens in situ. However, if hosts were depleted of NK cells before tumor challenge, MHC class II+ tumor was not recovered. Collectively these results suggest that adenocarcinoma 13762 is eliminated by MHC class II-restricted CD4+ T cells by direct tumor killing.

背景与目标： 与大鼠腺癌13762反应的CD4抗肿瘤T细胞在体外杀死肿瘤并在体内引起肿瘤消退。通过将抗肿瘤T细胞克隆过继转移到选择性清除了个体免疫细胞类型的受体上，研究了各种宿主免疫细胞在体内CD4 T细胞介导的肿瘤消除中的作用。通过这些手段，发现杀死肿瘤需要巨噬细胞和NK细胞。宿主CD4 T细胞，CD8 T细胞或嗜中性白细胞的耗竭对抗肿瘤T细胞对肿瘤的消除没有影响。抗原受体阴性NK细胞的重要作用可能取决于NK细胞分泌IFN-γ，因为在过继转移和肿瘤攻击之前用抗IFN-γ抗体治疗肿瘤受体可以消除T细胞杀伤，从而导致进行性肿瘤生长。体外用IFN-γ或抗IFN-γ抗体治疗不会影响腺癌13762或抗肿瘤T细胞的存活率，但通过暴露于IFN-γ诱导了肿瘤细胞的细胞表面MHC II类表达。另外，通过使用抗MHC II类抗体的吸收从荷瘤动物中分离出肿瘤细胞，表明13762肿瘤原位表达细胞表面MHC II类抗原。但是，如果宿主在肿瘤攻击前已耗尽NK细胞，则无法恢复MHC II类肿瘤。这些结果共同表明，通过直接杀死肿瘤，MHC II类限制性CD4 T细胞可消除13762腺癌。

BACKGROUND & AIMS: We report on an association study between a tetranucleotide repeat polymorphism in the GABR beta1 gene and manic-depressive illness in a Spanish population. This gene may be an important candidate for bipolar affective disorders since severe GABergic alterations have been described in patients. Although our results do not reveal a clear evidence for association between manic-depressive illness and GABR beta1, we have found significant differences between patients and controls in the female subpopulation.

背景与目标： 我们报告了GABR beta1基因中的四核苷酸重复多态性与西班牙人群的躁狂抑郁症之间的关联研究。该基因可能是双相情感障碍的重要候选者，因为已在患者中描述了严重的GAB能改变。尽管我们的结果并未显示出躁狂抑郁症与GABR beta1之间存在关联的明确证据，但我们发现女性亚人群中的患者与对照组之间存在显着差异。

BACKGROUND & AIMS: :Rhodopseudomonas palustris is a purple, facultatively phototrophic bacterium that uses hydrogen gas as an electron donor for carbon dioxide fixation during photoautotrophic growth or for ammonia synthesis during nitrogen fixation. It also uses hydrogen as an electron supplement to enable the complete assimilation of oxidized carbon compounds, such as malate, into cell material during photoheterotrophic growth. The R. palustris genome predicts a membrane-bound nickel-iron uptake hydrogenase and several regulatory proteins to control hydrogenase synthesis. There is also a novel sensor kinase gene (RPA0981) directly adjacent to the hydrogenase gene cluster. Here we show that the R. palustris regulatory sensor hydrogenase HupUV acts in conjunction with the sensor kinase-response regulator protein pair HoxJ-HoxA to activate hydrogenase expression in response to hydrogen gas. Transcriptome analysis indicated that the HupUV-HoxJA regulatory system also controls the expression of genes encoding a predicted dicarboxylic acid transport system, a putative formate transporter, and a glutamine synthetase. RPA0981 had a small effect in repressing hydrogenase synthesis. We also determined that the two-component system RegS-RegR repressed expression of the uptake hydrogenase, probably in response to changes in intracellular redox status. Transcriptome analysis indicated that about 30 genes were differentially expressed in R. palustris cells that utilized hydrogen when growing photoheterotrophically on malate under nitrogen-fixing conditions compared to a mutant strain that lacked uptake hydrogenase. From this it appears that the recycling of reductant in the form of hydrogen does not have extensive nonspecific effects on gene expression in R. palustris.

背景与目标： ：Rhodopseudomonas palustris是一种紫色的兼性光养细菌，它利用氢气作为电子供体，在光养植物生长过程中固定二氧化碳，或在固氮过程中合成氨气。它还使用氢作为电子补充剂，以在光异养生长期间将氧化的碳化合物（例如苹果酸）完全同化到细胞材料中。 R. palustris基因组预测膜结合的镍铁摄取氢化酶和几种调节蛋白来控制氢化酶的合成。与氢化酶基因簇直接相邻的还有一个新的传感器激酶基因（RPA0981）。在这里，我们显示帕氏疟原虫调节传感器氢化酶HupUV与传感器激酶响应调节蛋白对HoxJ-HoxA共同作用，以响应氢气激活氢化酶表达。转录组分析表明，HupUV-HoxJA调节系统还控制编码预测的二羧酸转运系统，推定的甲酸盐转运蛋白和谷氨酰胺合成酶的基因的表达。 RPA0981在抑制氢化酶合成方面作用很小。我们还确定了两组分系统RegS-RegR抑制摄取氢化酶的表达，可能是响应细胞内氧化还原状态的变化。转录组分析表明，与缺乏摄取氢酶的突变菌株相比，当在固氮条件下在苹果酸上光异养生长时，利用氢的pal.ris细胞中约有30个基因差异表达。由此看来，还原剂以氢的形式的循环利用对R. palustris的基因表达没有广泛的非特异性影响。

BACKGROUND & AIMS: BACKGROUND:We examined loss of heterozygosity (LOH) of the P53 gene in bladder cancer, and investigated the role of the P53 gene on malignant progression of papillary tumors. In addition, the clonality of recurrent bladder cancer was examined. METHODS:LOH of the P53 gene was analyzed in 67 bladder cancers from 47 patients. DNA was extracted from formalin-fixed, paraffin-embedded tissues, amplified by the polymerase chain reaction (PCR) at 3 polymorphic loci in the P53 gene, and analyzed with nonradioisotopic single-strand conformation polymorphism (Non-RI SSCP) analysis. RESULTS:Out of 40 informative samples, LOH was detected in 13 samples, containing 4 of 7 in grade 3 (57%), 9 of 23 in grade 2 (39%), and none of 10 in grade 1 (10%). Statistical significance was observed between the LOH in grades 1 and 2, and in grades 1 and 3. An analysis of 5 cases showing malignant progression revealed that 3 (60%) showed an LOH in the primary tumor, and 2 showed LOH in recurrent tumors, in contrast to LOH found in 3 cases of 19 (16%) not showing malignant progression. Four cases with metachronous recurrence exhibited LOH; 2 at recurrent tumors, 1 only at the initial tumor, and 1 at both tumors. CONCLUSIONS:The alterations of the P53 gene were considered to correlate with tumor grade, and contribute to the malignant progression of bladder cancer. LOH in the P53 gene may serve as a clinical indicator for prognosis in superficial bladder cancer.

背景与目标： 背景：我们检查了膀胱癌中P53基因的杂合性（LOH）缺失，并研究了P53基因在乳头状瘤恶性进展中的作用。另外，检查了复发性膀胱癌的克隆性。
方法：分析了47例患者的67例膀胱癌中P53基因的LOH。从福尔马林固定，石蜡包埋的组织中提取DNA，在P53基因的3个多态性位点处通过聚合酶链反应（PCR）进行扩增，并通过非放射性同位素单链构象多态性（Non-RI SSCP）分析。
结果：在40个信息量样本中，在13个样本中检测到LOH，其中3个7级中有4个（57％），2个23级中有9个（39％），1个10级中没有10个（10％）。在1级和2级以及1级和3级的LOH之间观察到统计学意义。对5例恶性进展的分析表明，3例（60％）在原发性肿瘤中显示LOH，2例在复发性肿瘤中显示LOH。 ，与LOH在19例（16％）的3例中未显示出恶性进展的情况相反。 4例异时复发表现为LOH。在复发性肿瘤中2个，仅在初始肿瘤中1个，在两个肿​​瘤中1个。
结论：P53基因的改变被认为与肿瘤的分级有关，并有助于膀胱癌的恶性进展。 P53基因中的LOH可作为浅表性膀胱癌预后的临床指标。

BACKGROUND & AIMS: :In a previous large scale screen for differentially expressed genes in pancreatic cancer, we identified a gene highly overexpressed in cancer encoding a novel protein with four K-homologous (KH) domains. KH-domains are found in a subset of RNA-binding proteins, including pre-mRNA-binding (hnRNP) K protein and the fragile X mental retardation gene product (FMR1). By fluorescence in situ hybridization (FISH) the identified gene named koc (KH domain containing protein overexpressed in cancer) was assigned to chromosome 7p11.5. Two pseudogenes were localised on chromosome 6 and 11. The cloned koc cDNA has a 250 bp 5'-UTR, a 1740 bp ORF and a 2168 bp 3'-UTR. The AU-rich 3'-untranslated region of koc contains eight AUUUA and four AUUUUUA reiterated motifs. The deduced koc protein with 580 amino-acids has a relative molecular mass (Mr) of approximately 65,000 (65 K). The koc transcript is highly overexpressed in pancreatic cancer cell lines and in pancreatic cancer tissue as compared to both, normal pancreas and chronic pancreatitis tissue. High levels of expression were as well found in tissue samples of other human tumours. As the KH domain has been shown to be involved in the regulation of RNA synthesis and metabolism, we speculate that koc may assume a role in the regulation of tumour cell proliferation by interfering with transcriptional and or posttranscriptional processes. However, the precise role of koc in human tumour cells is unknown and remains to be elucidated.

背景与目标： ：在先前针对胰腺癌中差异表达基因的大规模筛选中，我们鉴定了在癌症中高度过表达的基因，该基因编码具有四个K同源（KH）域的新型蛋白质。 KH结构域存在于RNA结合蛋白的子集中，包括前mRNA结合（hnRNP）K蛋白和脆弱的X智力低下基因产物（FMR1）。通过荧光原位杂交（FISH），将鉴定出的名为koc（在癌症中过表达的KH域蛋白）的基因分配给7p11.5染色体。两个假基因位于6号和11号染色体上。克隆的koc cDNA具有250 bp的5'-UTR，1740 bp的ORF和2168 bp的3'-UTR。富含AU的3'非翻译区域的koc包含八个AUUUA和四个AUUUUUA重复的基序。推导的具有580个氨基酸的koc蛋白的相对分子质量（Mr）约为65,000（65 K）。与正常胰腺和慢性胰腺炎组织相比，koc转录本在胰腺癌细胞系和胰腺癌组织中高度过表达。在其他人类肿瘤的组织样本中也发现了高水平的表达。由于已经显示出KH结构域参与RNA合成和代谢的调节，我们推测koc可能通过干扰转录和/或转录后过程而在调节肿瘤细胞增殖中发挥作用。但是，koc在人肿瘤细胞中的确切作用尚不清楚，尚待阐明。