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141.
Isolation of a candidate gene for Norrie disease by positional cloning. 总被引:17,自引:0,他引:17
W Berger A Meindl T J van de Pol F P Cremers H H Ropers C D?erner A Monaco A A Bergen R Lebo M Warburg 《Nature genetics》1992,1(3):199-203
The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the DXS7-MAOB interval we have generated a cosmid contig which extends 250 kb beyond the MAOB gene. With one of these cosmids, microdeletions were detected in several patients with Norrie disease. Screening of cDNA libraries has enabled us to isolate and sequence a likely candidate gene for Norrie disease which is expressed in retina, choroid and fetal brain. No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein. 相似文献
142.
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. 总被引:22,自引:0,他引:22
T Oz?elik S Leff W Robinson T Donlon M Lalande E Sanjines A Schinzel U Francke 《Nature genetics》1992,2(4):265-269
Prader-Willi syndrome (PWS) is associated with paternally derived chromosomal deletions in region 15q11-13 or with maternal disomy for chromosome 15. Therefore, loss of the expressed paternal alleles of maternally imprinted genes must be responsible for the PWS phenotype. We have mapped the gene encoding the small nuclear RNA associated polypeptide SmN (SNRPN) to human chromosome 15q12 and a processed pseudogene SNRPNP1 to chromosome region 6pter-p21. Furthermore, SNRPN was mapped to the minimal deletion interval that is critical for PWS. The fact that the mouse Snrpn gene is maternally imprinted in brain suggests that loss of the paternally derived SNRPN allele may be involved in the PWS phenotype. 相似文献
143.
Ornithine decarboxylase activity is critical for cell transformation. 总被引:50,自引:0,他引:50
The enzyme ornithine decarboxylase is the key regulator of the synthesis of polyamines which are essential for cell proliferation. Expression of this enzyme is transiently increased upon stimulation by growth factors, but becomes constitutively activated during cell transformation induced by carcinogens, viruses or oncogenes. To test whether ornithine decarboxylase could be a common mediator of transformation and oncogenic itself, we transfected NIH3T3 cells with expression vectors carrying the complementary DNA encoding human ornithine decarboxylase in sense and antisense orientations. The increased expression of the enzyme (50-100-times endogenous levels) induced not only cell transformation, but also anchorage-independent growth in soft agar and increased tyrosine phosphorylation of a protein of M(r) 130K. Expression of ornithine decarboxylase antisense RNA was associated with an epithelioid morphology and reduced cell proliferation. Moreover, blocking the endogenous enzyme using specific inhibitor or synthesizing antisense RNA prevented transformation of rat fibroblasts by temperature-sensitive v-src oncogene. Our results imply that the gene encoding ornithine decarboxylase is a proto-oncogene central for regulation of cell growth and transformation. 相似文献
144.
Shuttling of pre-mRNA binding proteins between nucleus and cytoplasm. 总被引:118,自引:0,他引:118
145.
Mitochondria contain a complex machinery for the import of nuclear-encoded proteins. Receptor proteins exposed on the outer membrane surface are required for the specific binding of precursor proteins to mitochondria, either by binding of cytosolic signal recognition factors or by direct recognition of the precursor polypeptides. Subsequently, the precursors are inserted into the outer membrane at the general insertion site GIP (general insertion protein). Here we report the analysis of receptors and GIP by crosslinking of translocation intermediates and by coimmunoprecipitation. Surface-accumulated precursors were crosslinked to the receptors MOM19 and MOM72, suggesting a direct interaction of preproteins with surface receptors. We identified three novel mitochondrial outer membrane proteins, MOM7, MOM8, and MOM30 that, together with the previously identified MOM38, seem to form the GIP site and are present in the mitochondrial receptor complex. 相似文献
146.
提出了生成“铅树”反应成功的关键是硅酸凝胶的坚固性,找到了较好的硅酸凝胶的制备条件,使该氧化还原平衡移动的反应成功率提高了90 % 以上. 相似文献
147.
Viable metacyclic forms of T. cruzi, Y strain, treated with an adequate dose of actinomycin D (50 micrograms Act-D/ml/10(7) parasites/ml for 72 h at 28 degrees C) showed the following properties: 1) they lost their ability to replicate in culture medium, in blood and in tissues of normal mice and were no longer able to incorporate tritiated thymidine; 2) they could not penetrate into Vero cells and could not replicate inside normal macrophages; 3) they retained their immunogenicity and the ability to protect mice against a virulent infection; 4) they did not induce histological lesions as described in chronic experimental Chagas' disease. 相似文献
148.
Long-range colour-generating interactions across the retina 总被引:1,自引:0,他引:1
The existence of colour-generating interactions across the corpus callosum has recently been suggested from observations with a 'split-brain' patient, thus indicating long-range colour computations at the cortical level. Observations on induced colours described here suggest long-range colour computations at the retinal level. If a white surface surrounded by a particular colour is fixated for some time, the resulting after-image has two colours: the surround appears in complementary colour, whereas the white centre takes on the colour of the surround. The question of whether such colour induction is located in the retina or more centrally was tested in a brain-injured patient with hemianopia. It could be demonstrated that areas of the visual field that are no longer represented in the geniculo-striatal pathway still contribute to colour induction, suggesting that colour induction is a retinal phenomenon. 相似文献
149.
150.
Properties of granules that contain kallikrein and renin 总被引:1,自引:0,他引:1