A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

We describe a pathogenetic mechanism underlying a variant form of the inherited blood disorder alpha thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the alpha-globin gene cluster, but no molecular defects were detected by conventional approaches. After resequencing and using a combination of chromatin immunoprecipitation and expression analysis on a tiled oligonucleotide array, we identified a gain-of-function regulatory single-nucleotide polymorphism (rSNP) in a nongenic region between the alpha-globin genes and their upstream regulatory elements. The rSNP creates a new promoterlike element that interferes with normal activation of all downstream alpha-like globin genes. Thus, our work illustrates a strategy for distinguishing between neutral and functionally important rSNPs, and it also identifies a pathogenetic mechanism that could potentially underlie other genetic diseases.     

A liver-specific enhancer in the core promoter region of human hepatitis B virus

An 88-base pair fragment in the core promoter of the human hepatitis B virus (HBV) contains a functional promoter and a strong liver-specific enhancer. This enhancer functions in human hepatoma cells, where it is much more active than the previously described HBV enhancer in stimulating expression of the linked bacterial chloramphenicol acetyltransferase gene expressed from heterologous promoters. Studies of the role of this enhancer-promoter in HBV may help to clarify mechanisms of gene expression in cells infected with HBV and the role of the virus in the pathogenesis of hepatitis and hepatocellular carcinoma.     

A single genetic unit specifies two transposition functions in the maize element activator

The self-mobile maize transposable element Ac (Activator) displays two trans-acting genetic functions: it induces transposition of the element Ds (Dissociation) but, as its dosage is increased, it also inhibits transposition. Previous work has shown that the 4563 base pair (bp)-long Ac element contains three open reading frames (ORF's) and that a deletion in ORF 1 in wx-m9(Ds), a Ds derivative from Ac isolated at the wx (waxy) locus, results in loss of transposition. The Ds element in the bronze allele bz-m2(DI) is shown to have arisen from Ac by a 1312-bp deletion that is located almost entirely within ORF 2 and does not affect ORF 1. The Ds elements in wx-m9(Ds) and bzm2(DI), defective in ORF 1 and ORF 2, respectively, do not complement genetically to restore the transposition function of Ac; therefore, this function must be specified jointly by ORF's 1 and 2. Furthermore, since bz-m2(DI) does not contribute to Ac's inhibitory dosage effect, both Ac properties result from the expression of the same genetic functional unit.     

一个水稻茎叶优势表达锌指基因启动子的克隆及功能分析

通过RT-PCR分析,鉴定了一个在水稻茎、叶中特异表达的锌指基因OsZF153.利用PCR扩增了OsZF153基因上游约2 kb启动子区,构建了启动子与GUS的融合表达载体pCZF153P-GUS.pCZF153P-GUS转基因T0植株GUS活性分析显示:转基因植株的根、茎、叶、颖壳中检测到GUS活性,其中茎和叶GUS表达活性较强,而根和颖壳表达较弱,在雄蕊和雌蕊及种子不同发育阶段中没有检测到GUS活性,表明OsZF153启动子是一个水稻非生殖器官表达,且在茎、叶中优势表达的启动子.     

特殊的多功能喷头设计研究

借用稳定流动液体连续性方程等流体力学理论,导出特殊的多功能喷头阀芯移动量S与节流面积f的关系.通过正交试验,选出喷头最佳的喷孔直径和长度,研制出了适用于不同水压及相配套的设备中特殊的多功能喷头.在自来水水压(0.15 MPa)下,其喷射距离为8.3 m; 在高压清洗机的水压(7.84 MPa)下,其喷射距离为10 m.并且还提供了研制喷头的方法.     

樟树叶片示踪高速路附近大气氮沉降

[目的]研究维管束植物组织监测大气氮沉降的可行性。[方法]在距高速路不同距离的地点采集不同树冠位置的樟树叶片及其下方的根际土壤,按照叶片面积大小对叶片进行分类,用元素分析仪分析叶片和土样所含氮量,统计分析叶片年龄、污染源和树冠对樟树叶片的影响。[结果]大叶片氮含量显著低于中叶片和小叶片;叶片氮含量随着离高速路距离的增大逐渐降低,而且差异显著,其与土壤氮含量变化无一致趋势;树冠不同位置氮含量也有差异：树顶叶片氮含量显著高于树底和树沿。这说明在土壤条件不同的情况下,樟树叶片也可以很好地指示大气氮沉降。[结论]维管柬植物监测大气环境具有可行性。