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11.
Rosenberg MJ Agarwala R Bouffard G Davis J Fiermonte G Hilliard MS Koch T Kalikin LM Makalowska I Morton DH Petty EM Weber JL Palmieri F Kelley RI Schäffer AA Biesecker LG 《Nature genetics》2002,32(1):175-179
The disorder Amish microcephaly (MCPHA) is characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine and premature death. The disorder is inherited in an autosomal recessive pattern and has been observed only in Old Order Amish families whose ancestors lived in Lancaster County, Pennsylvania. Here we show, by using a genealogy database and automated pedigree software, that 23 nuclear families affected with MCPHA are connected to a single ancestral couple. Through a whole-genome scan, fine mapping and haplotype analysis, we localized the gene affected in MCPHA to a region of 3 cM, or 2 Mb, on chromosome 17q25. We constructed a map of contiguous genomic clones spanning this region. One of the genes in this region, SLC25A19, which encodes a nuclear mitochondrial deoxynucleotide carrier (DNC), contains a substitution that segregates with the disease in affected individuals and alters an amino acid that is highly conserved in similar proteins. Functional analysis shows that the mutant DNC protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes MCPHA. Our data indicate that mitochondrial deoxynucleotide transport may be essential for prenatal brain growth. 相似文献
12.
Herbicides including Agent Orange were sprayed by United States forces for military purposes during the Vietnam War (1961-1971) at a rate more than an order of magnitude greater than for similar domestic weed control. In 1974, the US National Academy of Sciences published estimates of the extent and distribution of herbicides sprayed. Here we present revised estimates, developed using more-complete data. The spray inventory is expanded by more than seven million litres, in particular with heavily dioxin-contaminated herbicides. Estimates for the amount of dioxin sprayed are almost doubled. Hamlet census data reveal that millions of Vietnamese were likely to have been sprayed upon directly. Our identification of specific military herbicide targets has led to a more coherent understanding of spraying. Common errors in earlier interpretations of the spray data are also discussed. 相似文献
13.
Functional architecture of an intracellular membrane t-SNARE 总被引:6,自引:0,他引:6
Fukuda R McNew JA Weber T Parlati F Engel T Nickel W Rothman JE Söllner TH 《Nature》2000,407(6801):198-202
Lipid bilayer fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, of which one is supplied by the v-SNARE and the other three by the t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and a SNAP-25 protein contributes the other two. Although there are numerous homologues of syntaxin on intracellular membranes, there are only two SNAP-25-related proteins in yeast, Sec9 and Spo20, both of which are localized to the plasma membrane and function in secretion and sporulation, respectively. What replaces SNAP-25 in t-SNAREs of intracellular membranes? Here we show that an intracellular t-SNARE is built from a 'heavy chain' homologous to syntaxin and two separate non-syntaxin 'light chains'. SNAP-25 may thus be the exception rather than the rule, having been derived from genes that encoded separate light chains that fused during evolution to produce a single gene encoding one protein with two helices. 相似文献
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16.
F. Weber 《Cellular and molecular life sciences : CMLS》1985,41(3):398-400
Summary Pieces of the hind legs of freshly moltedBlaberus craniifer adults were cultivated in vitro. The deposition of multilamellate and circadian-like layered endocuticle was observed. In multilamellate cuticle, the number of double lamellae was frequently much greater than the number of days in culture. In circadian-like layered cuticle, the number of double layers corresponded to the numbers of days in culture, or it was smaller.I am indebted to Mrs Hassenrück, for excellent assistance. — Supported by the Deutsche Forschungsgemeinschaft (We 389/12-2). 相似文献
17.
Seeds of two halophytes, Atriplex triangularis, which grows in a mesic saline marsh environment, and Atriplex confertifolia, which grows in a xeric desert environment, were analyzed by energy-dispersive X-ray microanalysis for the distribution of elements. The highest concentration of sodium, chlorine, potassium, and calcium was present in seed coats of A. triangularis. All of the elements detected were at low concentrations in the endosperm. Embryos contained the highest amount of phosphorus that is probably associated with organophosphate compounds. Potassium was also high in embryos. The total amount of elements in all regions of A. confertifolia was low as compared to A. triangularis. In a similar pattern sodium, chlorine, potassium, and calcium were the highest in seed coats of A. confertifolia. Elemental concentration was also low in the endosperm. Likewise, the phosphorus level was the highest in the embryo. The results support the concept of elemental compartmentalization in seeds of these halophytes. 相似文献
18.
Thirty-eight accessions of 20 taxa (species and subspecies) of Chrysothamnus from a range of environments were grown in a uniform garden. During mid-June, terminal and lateral leaves were removed, fixed, and processed for light-microscopy studies. Area and perimeter measurements of ink tracings of midleaf vein cross sections were measured using computer-scan techniques. Leaf area and perimeter were compared with vein perimeter and area measurements. Area and perimeter of these Chrysothamnus leaves varied in response to the environment at the collection location. Plants native to hot, dry conditions had small, thick leaves, whereas plants native to cooler, more mesic conditions had relatively large, thin leaves. Similarly, leaves with round veins were adapted to hot, dry environments and leaves with elliptical veins were adapted to cooler, more mesic environments. Both terminal (young) and lateral (older) leaves were sampled. Terminal leaves showed significant (p < .05) correlational responses to environmental parameters, whereas the lateral leaves, while fronding in the predicted morphological directions, did not generally show significant responses. The different responses of terminal and lateral leaves may have been due to canopy position and uniform environmental conditions of the garden. Leaves with large cross sections characteristically had large veins, and leaves with small cross sections characteristically had small veins. Large leaf cross sections were normally flat. Small leaf cross sections were normally round. Decreasing leaf size and increasing leaf thickness were correlated with aridity. 相似文献
19.
在软件工程中,企业系统最为吸引人也是最为需求的。本书对企业系统建模作概念性的介绍和全面地综述。提出了分析与设计基于表单的企业系统的一种特殊目的建模技术。对特殊领域建模语言一直存在着强烈的需求。本书的作者来自科学家和对此类商业应用程序有兴趣的专业人员,他们以一种创新的方法修改了已被广泛接受的基本建模技术,实现对所需应用程序领域建模框架的优化。 相似文献
20.
L. W. D. Weber 《Cellular and molecular life sciences : CMLS》1987,43(2):176-178
Summary A known ornithine decarboxylase assay working with ion exchang separation of [3H]ornithine and [3H]putrescine has been revised. The assay can be performed in disposable 1.5 ml vessels with a total of four pipetting steps. The separation of enzyme substrate and product, respectively, requires 3 h per 50 samples. The detection limit is about 50 pmoles [3H]putrescine formed. 相似文献