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41.
Evidence for Linkage of Bipolar Disorder to Chromosome 18 with a Parent-of-Origin Effect 总被引:16,自引:8,他引:8 下载免费PDF全文
O. Colin Stine Jianfeng Xu Rebecca Koskela Francis J. McMahon Michele Gschwend Carl Friddle Chris D. Clark Melvin G. McInnis Sylvia G. Simpson Theresa S. Breschel Eva Vishio Kelly Riskin Harriet Feilotter Eugene Chen Susan Shen Susan Folstein Deborah A. Meyers David Botstein Thomas G. Marr J. Raymond DePaulo 《American journal of human genetics》1995,57(6):1384-1394
A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder (BPAD). We have studied 28 nuclear families selected for apparent unilineal transmission of the BPAD phenotype, by using 31 polymorphic markers spanning chromosome 18. Evidence for linkage was tested with affected-sib-pair and LOD score methods under two definitions of the affected phenotype. The affected-sib-pair analyses indicated excess allele sharing for markers on 18p within the region reported previously. The greatest sharing was at D18S37: 64% in bipolar and recurrent unipolar (RUP) sib pairs (P = .0006). In addition, excess sharing of the paternally, but not maternally, transmitted alleles was observed at three markers on 18q: at D18S41, 51 bipolar and RUP sib pairs were concordant for paternally transmitted alleles, and 21 pairs were discordant (P = .0004). The evidence for linkage to loci on both 18p and 18q was strongest in the 11 paternal pedigrees, i.e., those in which the father or one of the father's sibs is affected. In these pedigrees, the greatest allele sharing (81%; P = .00002) and the highest LOD score (3.51; θ = 0.0) were observed at D18S41. Our results provide further support for linkage of BPAD to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder. The number of loci involved, and their precise location, require further study. 相似文献
42.
A series of mutations in mice was tested for splenic NK-cell activity against YAC-1 target cells. Mutations at six loci that reduce NK-cell activity in the homozygous state were identified, including beige (bg), hairless (hr), motheaten (me), obese (ob), steel (Sl) and, to a lesser extent, dominant spotting (W). Motheaten mice displayed the most profound NK-cell deficiency, with NK-cell activity virtually absent. Two mutations, nude (nu) and lymphoproliferation (Ipr), produced elevated NK-cell-mediated lysis. The double homozygous recessivenu/nu bg/bg nude-beige mouse was viable and NK-cell-deficient, with activity slightly higher than that of +/?bg/bg beige littermate controls. Pigmentation mutants related to beige, including pale ears (ep), pearl (pe), and ruby eyes (ru 2J ) did not dramatically influence NK-cell levels. Unlike the obese gene, other mutations leading to obesity, diabetes (db) and yellow (Asuy), did not impair NK-cell function. The possible site of gene action of these mutants in the NK-cell pathway is discussed. 相似文献
43.
G G Choudhury V L Sylvia A Y Sakaguchi 《The Journal of biological chemistry》1991,266(34):23147-23151
Receptor tyrosine kinases couple to multiple intracellular effector molecules that are crucial for normal cell growth and transformation. Stimulation of membrane phospholipid hydrolysis by receptor tyrosine kinases is one such pathway for generating intracellular second messengers that may be important for mitogenesis. Certain receptor tyrosine kinases tyrosine phosphorylate a phosphoinositide-specific phospholipase C that hydrolyses the membrane phospholipid phosphatidylinositol 4,5-bisphosphate. In contrast, the glycoprotein receptor for colony stimulating factor 1, a transmembrane tyrosine kinase, does not utilize this pathway, but rather stimulates the hydrolysis of phosphatidylcholine. Here we show that eluates of antiphosphotyrosine affinity purified lysates of colony-stimulating factor 1-stimulated cells contain elevated levels of phosphatidylcholine-specific phospholipase C activity. The affinity-purified activity is sensitive to tyrosine-specific T-cell phosphatase, and is detected in the membrane fraction of stimulated cells. Recovery of phospholipase C activity in the antiphosphotyrosine protein fraction is reduced by pertussis toxin pretreatment of cells. The phosphatidylcholine phospholipase C activity in isolated membranes of colony-stimulating factor 1-treated cells was also reduced by pertussis toxin treatment and stimulated by guanosine 5'-3-O-(thio)triphosphate. These results indicate that colony stimulating factor 1 receptor-mediated stimulation of phosphatidylcholine-specific phospholipase C requires tyrosine phosphorylation, and might be affected by a G-protein coupled pathway. 相似文献
44.
Strictly anaerobic bacteria were enriched and isolated from freshwater sediment sources in the presence and absence of sulfate with sorbic acid as sole source of carbon and energy. Strain WoSo1, a Gram-negative vibrioid sulfate-reducing bacterium which was assigned to the species Desulfoarculus (formerly Desulfovibrio) baarsii oxidized sorbic acid completely to CO2 with concomitant stoichiometric reduction of sulfate to sulfide. This strain also oxidized a wide variety of fatty acids and other organic compounds. A Gram-negative rod-shaped fermenting bacterium, strain AmSo1, fermented sorbic acid stoichiometrically to about equal amounts of acetate and butyrate. At concentrations higher than 10 mM, sorbic acid fermentation led to the production of pentanone-2 and isopentanone-2 (3-methyl-2-butanone) as byproducts. Strain AmSo1 fermented also crotonate and 3-hydroxybutyrate to acetate and butyrate, and hexoses to acetate, ethanol, hydrogen, and formate. The guanine-plus-cytosine content of the DNA was 41.8±1.0 mol%. Sorbic acid at concentrations higher than 5 mM inhibited growth of this strain while strain WoSo1 tolerated sorbic acid up to 10 mM concentration. 相似文献
45.
James M. Phang Sylvia J. Downing Grace Chao Yeh 《Biochemical and biophysical research communications》1980,93(2):462-470
The reactions catalyzed by proline oxidase and pyrroline-5-carboxylate reductase form a catalytic cycle linking the hexose-monophosphate pentose (HMP) pathway to mitochondrial ATP generation. The cycling of proline and pyrroline-5-carboxylate couples glucose oxidation to ATP generation by a mechanism independent of the Embden-Meyerhof pathway and the tricarboxylic acid cycle. 相似文献
46.
47.
The ultrastructure of the small granular, proteinaceous cells of 11 species of lumbricid earthworm is described and no species differences were recorded. The cells are characterized by the presence of membrane-bound, electron dense granules (0.6–0.7 urn in diameter) arising from polarized Golgi systems in close topographical relationship to the granular endoplasmic reticulum. Variations in electron density of the granules appear to be associated with maturation of the granules. The granules show a finely reticular substructure at high magnification. A less than fully mature stage of this cell type is described.
The occurrence of the small granular cell type in the annelids is discussed, as is the possible function of its secretion.
The confusions in the lumbricid literature concerning this cell type are discussed, and the much referred to figure of the 'albumen' cell type in English texts is shown not to be equivalent to the small granular, proteinaceous type referred to in this and a previous histochemical study. 相似文献
The occurrence of the small granular cell type in the annelids is discussed, as is the possible function of its secretion.
The confusions in the lumbricid literature concerning this cell type are discussed, and the much referred to figure of the 'albumen' cell type in English texts is shown not to be equivalent to the small granular, proteinaceous type referred to in this and a previous histochemical study. 相似文献
48.
Selig Hecht Charles D. Hendley Sylvia R. Frank Charles Haig 《The Journal of general physiology》1946,29(5):335-351
1. Brightness discrimination has been studied with individuals breathing oxygen concentrations corresponding to 7 altitudes between sea level and 17,000 feet. The brightnesses were 0.1, 0.01, and 0.001 millilambert involving only daylight (cone) vision. 2. At these light intensities, brightness discrimination begins to deteriorate at fairly low altitudes. The deterioration is obvious at 8,000 feet, and becomes marked at 15,000 feet, where at low brightness, the contrast must be increased 100 per cent over the sea level value before it can be recognized. 3. The impairment of brightness discrimination with increase in altitude is greater at higher altitudes than at lower. The impairment starts slowly and becomes increasingly rapid the higher the altitude. 4. Impairment of brightness discrimination varies inversely with the light intensity. It is most evident under the lowest light intensities studied, but shows in all of them. However, it decreases in such a way that the deterioration is negligible in full daylight and sunlight. 5. The thresholds of night (rod) vision and day (cone) vision are equally affected by anoxia. 6. The quantitative form of the relation between brightness discrimination ΔI/I and the prevailing brightness I remains the same at all oxygen concentrations. The curve merely shifts along the log I axis, and the extent of the shift indicates the visual deterioration. 7. The data are described in terms of retinal chemistry. Since anoxia causes only a shift in log I it is shown that the photochemical receptor system cannot be affected. Instead the conversion of photochemical change into visual function is impaired in such a way that the conversion factor varies as the fourth power of the arterial oxygen saturation. 相似文献
49.
50.
de Sousa Sylvia Morais de Oliveira Christiane Abreu Andrade Daniele Luiz de Carvalho Chainheny Gomes Ribeiro Vitória Palhares Pastina Maria Marta Marriel Ivanildo Evódio de Paula Lana Ubiraci Gomes Gomes Eliane Aparecida 《Journal of Plant Growth Regulation》2021,40(2):867-877
Journal of Plant Growth Regulation - The rising demand for agricultural commodities in developing countries has put increasing pressure on land resources for higher yields, with associated growth... 相似文献