MODY 2: Mutation identification and molecular ancestry in a Brazilian family

Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2–5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil.     

Strategies for signal amplification in nucleic acid detection

Many aspects of molecular genetics necessitate the detection of nucleic acid sequences. Current approaches involving target amplification (in situ PCR, Primed in situ Labeling, Self-Sustained Sequence Replication, Strand Displacement Amplification), probe amplification (Ligase Chain Reaction, Padlock Probes, Rolling Circle Amplification) and signal amplification (Tyramide Signal Amplification, Branched DNA Amplification) are summarized in the present review, together with their advantages and limitations.     

Dual Binding Mode of the Nascent Polypeptide-associated Complex Reveals a Novel Universal Adapter Site on the Ribosome

Nascent polypeptide-associated complex (NAC) was identified in eukaryotes as the first cytosolic factor that contacts the nascent polypeptide chain emerging from the ribosome. NAC is present as a homodimer in archaea and as a highly conserved heterodimer in eukaryotes. Mutations in NAC cause severe embryonically lethal phenotypes in mice, Drosophila melanogaster, and Caenorhabditis elegans. In the yeast Saccharomyces cerevisiae NAC is quantitatively associated with ribosomes. Here we show that NAC contacts several ribosomal proteins. The N terminus of βNAC, however, specifically contacts near the tunnel exit ribosomal protein Rpl31, which is unique to eukaryotes and archaea. Moreover, the first 23 amino acids of βNAC are sufficient to direct an otherwise non-associated protein to the ribosome. In contrast, αNAC (Egd2p) contacts Rpl17, the direct neighbor of Rpl31 at the ribosomal tunnel exit site. Rpl31 was also recently identified as a contact site for the SRP receptor and the ribosome-associated complex. Furthermore, in Escherichia coli peptide deformylase (PDF) interacts with the corresponding surface area on the eubacterial ribosome. In addition to the previously identified universal adapter site represented by Rpl25/Rpl35, we therefore refer to Rpl31/Rpl17 as a novel universal docking site for ribosome-associated factors on the eukaryotic ribosome.     

控制常绿针叶树叶量对树干生长的促进作用

一、前言近几年,在研究不同树种的修枝过程中,偶然发现,一些常绿针叶树的人工去叶能加快树干材积的生长,这引起了人们新的研究兴趣:控制常绿针叶树的叶量是否能促进树木生长?这一措施有多少可能的前途或弊端?多年来,人类为寻求促进林木生长的有效经营措施,利用各种手段进行了大量实验研究工作,获得了很有意义的成果,抚育间伐是其中的一项重要途径。由于世界各国的日益重视,60年代以来,很多学     

膜融合的分子机制:线粒体呼吸链不同偶联部位质子泵活性与膜融合程度之间的定量相关性(英文)

我们测定了鼠肝线粒体呼吸链不同偶联部位的质子系活性并通过荧光能量共振转移 法分析了鼠肝线粒体膜与脂质体（二油酰磷脂乙醇胺／心磷脂＝８／２）的膜融合程度。根据测量呼吸链第一段及第二段偶联部位的Ｈ＋／偶联部位的化学计量比值,观察到线粒体呼吸链质子泵的质子（Ｈ＋）泵活性及 Ｈ＋泵出量与膜融合程度呈现线性的定量相关性。这些实验结果进一步支持了我们提出的质子泵诱导膜融合的理论模型（刘树森等,１９８７、１９８９）。     

Early needle senescence and thinning of the crown structure of Picea abies as induced by chronic SO2 pollution. II. Field data basis, model results and tolerance limits

Field data on the sulphur and cation budget of growing Norway spruce canopies (Picea abies [L.] Karst.) are summarized. They are used to test a spruce decline model capable of quantifying effects of chronic SO₂ pollution on spruce forests. At ambient SO₂ concentrations, acute SO₂ damage is rare, but exposure to polluted air produces reversible thinning of the canopy structure with a half-time of a few years. Canopy thinning in the spruce decline model is highest (i) at elevated SO₂ pollution, (ii) in the mountains, (iii) at unfertilized sites with poor K⁺, Mg²⁺ or Zn²⁺ supply, (iv) at low spruce litter decomposition rates, and (v) acidic, shallow soils at high annual precipitation rates in the field and vice versa. Model application using field data from Würzburg (moderate SO₂ pollution, alkaline soils, no spruce decline) and from the Erzgebirge (extreme SO₂ pollution, acidic soils in the mountains, massive spruce decline) predicts canopy thinning by 2–11% in Würzburg and by 45–70% in the Erzgebirge. The model also predicts different SO₂-tolerance limits for Norway spruce depending on the site elevation and on the nutritional status of the needles. If needle loss of more than 25% (damage class 2) is taken to indicate ‘real damage’ exceeding natural variances, then for optimum soil conditions SO₂ tolerance limits range from (27.3 ± 7.4) μg m^?3 to (62.6 ± 16.5) μg m^?3. For shallow and acidic soils, SO₂ tolerance limits range from (22.0 ± 5.5) μg m^?3 to (37.4 ± 7.5) μ m^?3. These tolerance limits, which are calculated on an ecophysiological data basis for Norway spruce are close to epidemiological SO₂-toIerance limits as recommended by the IUFRO, UN-ECE and WHO. The observed statistical regression slope of the plot (damaged spruce trees vs. SO₂-pollution) in west Germany is confirmed by modelling (6% error). Model application to other forest trees allows deduction of the observed sequence of SO₂-sensitivity: Abies > Picea > Pinus > Fagus > Quercus. Thus, acute phytotoxicity of SO₂ seems not to be involved in ‘forest decline’. Chronic SO₂-pollution induces massive canopy thinning of Abies alba and Picea abies only at unfavourable sites, where natural stress factors and secondary effects of SO₂pollution act together to produce tree decline.     

浙江省松阳县黄山松种群的密度与生物量动态

 本文研究了浙江省松阳县关山源地区黄山松种群的密度与生物量动态以及它们之间的相互关系。黄山松是该地区森林演替中的先锋种群之一。在演替过程中,黄山松种群的动态可分成三个阶段。大约在黄山松种群入侵次生裸地的最初10年期间,种群的密度和生物量迅速增长(阶段Ⅰ)。此后,种群密度达到饱和,由于自疏作用出现以及其他阔叶树种的入侵,种群密度开始急剧下降,个体平均重量和种群生物量迅速增长(阶段Ⅱ),–3/2自疏定律适用于种群动态的此阶段。随着阔叶树种进入林冠层,虽然个体平均重量仍缓慢增长,黄山松种群的密度和种群生物量逐渐下降直至退出群落(阶段Ⅲ)。但在一些特殊生境中(如裸岩陡坡或山脊),黄山松种群可形成稳定的地形顶极群落,其种群密度、个体平均重量和种群生物量可长期维持相对稳定的状态。     

Use of hydrogen cyanamide for apple and plum thinning

Effects of various concentrations of Dormex (a.i. 49% hydrogen cyanamide) on fruit thinning of Rome Beauty apple (Malus domestica Borkh.), Friar and Simka plums (Prunus salicina Lindley) were studied. A full bloom application of Dormex at all tested concentrations decreased Rome Beauty apple fruit set and yield, and increased fruit weight. Dormex at 0.25% (v/v) resulted in adequate apple thinning, indicated by production of an optimum fruit weight (320 g). Prebloom and full bloom applications of Dormex at greater than 0.75% reduced plum fruit set and yield in Friar. Full bloom application of Dormex at 0.50% showed a satisfactory fruit set, yield, and fruit weight in Friar plum. Prebloom Dormex application had no significant effect on `Simka' plum fruit set or yield, but full bloom application decreased fruit set and yield.     

Depolarized light-scattering studies of bilayer structures in phospholipid vesicles

Depolarized light scattering has been used to investigate the hydrocarbon chain packing of phospholipids in vesicles below the phase transition and ordering of their chains above the phase transition. The chain packing and ordering have been demonstrated for vesicles of l-α-dipalmitoylphosphatidylethanolamine and some phosphatidylcholines of different hydrocarbon chain lenghts. Anisotropy ratios for phospholipid vesicles could be determined by measuring depolarization ratios for several vesicle sizes at low concentrations of the lipids. The following results were obtained. Hydrocarbon chains of l-α-dimyristoyl and distearoylphosphatidylcholines below their phase transitions pack at tilting angles in good agreement with X-ray diffraction data. On the other hand, hydrocarbon chains of dipalmitoylphosphatidylethanolamine pack perpendicular to the bilayer surface. Values of the averaged order parameter for dimyristoyl, dipalmitoyl and distearoylphosphatidylcholines at 2.5°C above their phase transition are all the same and the value for dipalmitoylphosphatidylcholine is in agreement with results from ²H-NMR experiments. The value of the order parameter for dipalmitoylphosphatidylethanolamine is slightly larger than that for dipalmitoylphosphatidylcholine.