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21.
S. Yu J. Mulley D. Loesch G. Turner A. Donnelly A. Gedeon D. Hillen E. Kremer M. Lynch M. Pritchard G. R. Sutherland R. I. Richards 《American journal of human genetics》1992,50(5):968-980
The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due to increased instability. The instability of the p(CCG)n repeat, when transmitted through affected pedigrees, explains the unusual segregation patterns of fragile-X phenotype, referred to as the Sherman paradox. All individuals of fragile-X genotype were found (where testing was possible) to have a parent with amplified p(CCG)n repeat, indicating that few, if any, cases of fragile-X syndrome are not familial. 相似文献
22.
Roberto Bacilieri Alexis Ducousso Rmy J. Petit Antoine Kremer 《Evolution; international journal of organic evolution》1996,50(2):900-908
The sessile (Quercus petraea [Matt.] Liebl.) and pedunculate (Quercus robur L.) oaks are two closely related species having a wide sympatric distribution over Europe. Under natural conditions, they frequently form mixed forests, where hybridization is suspected to occur. In this paper, two different approaches have been applied to the study of the mating system and the interspecific gene flow in a mixed stand formed by the two species. The mating systems of both species have been studied separately by means of the mixed-mating model. The relative contribution of the parental species to the progenies have been estimated with two different methods. The first uses the admixture model. The second is an extension of the mixed-mating model and subdivides the outcrossing rate into intra- and interspecific components. The two species were almost completely outcrossing. This high level of outcrossing and interspecific gene flow could play an important role in the maintenance of the genetic diversity in these long-lived forest tree species. The contribution of the sessile oak to the pedunculate oak progenies varied from 17% to 48%. In contrast, ovules of sessile oak trees appear to be preferentially fertilized by other extreme sessile genotypes. We suggest that interspecific and directional gene flow was responsible for such patterns. Pedunculate oak is considered as a pioneer species and is progressively replaced by sessile oak. Our present findings add a further genetic component to this succession scheme, suggesting that unidirectional gene flow reinforces succession between the two species. 相似文献
23.
Age-specific life tables of two important pests of cowpea, Vigna unguiculata (L.) Walp., the pod sucking bugs Clavigralla tomentosicollis Stål and C. shadabi Dolling (Heteroptera: Coreidae), were obtained from observations carried out at different temperatures. A biophysical model was found satisfactory to describe the temperature-response of developmental and mortality rates of egg and nymphal stages, with a peak developmental rate around 34°C in both species. The variability in development times was small and the experimental data did not permit any conclusion with regard to the Erlang probability density function. Survival of eggs and nymphs remained high between 20° and 30°C for both species. At temperatures above 34°C, C. tomentosicollis survivorship and fecundity was higher than that of C. shadabi, which in turn laid more eggs at temperatures between 20° and 30°C. Maximum fecundity is estimated to be at 29°C for C. tomentosicollis (99 eggs/female) and 26°C for C. shadabi (261 eggs/female). At 30°C, the intrinsic rate of increase reached a maximum in both species, 0.152 per day for C. tomentosicollis and 0.145 per day for C. shadabi, and remained high for C. tomentosicollis until 36°C. C. tomentosicollis performed significantly better on pigeonpea, Cajanus cajan Millsp., than on cowpea at higher temperatures. 相似文献
24.
Paracrine functions of the coronary vascular endothelium 总被引:5,自引:0,他引:5
Ingrid Fleming Johann Bauersachs Rudi Busse 《Molecular and cellular biochemistry》1996,157(1-2):137-145
25.
Metabolism of Pyrene by the Basidiomycete Crinipellis stipitaria and Identification of Pyrenequinones and Their Hydroxylated Precursors in Strain JK375 总被引:2,自引:2,他引:0
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The metabolism of pyrene, a polycyclic aromatic hydrocarbon, by submerged cultures of the basidiomycete Crinipellis stipitaria was studied. After incubation for 68 h at 25°C in a 20-liter fermentor with complex medium and 20 mg of pyrene per liter, five metabolites were detected. The compounds were isolated by preparative high-performance liquid chromatography on RP18 and DIOL gels. By UV, infrared, and 1H nuclear magnetic resonance spectroscopy and mass spectrometry, 1-hydroxypyrene, 1,6-dihydroxypyrene, 1,8-dihydroxypyrene, 1,6-pyrenequinone, and 1,8-pyrenequinone were identified. 1,6- and 1,8-dihydroxypyrene were obtained from fungal cultures for the first time. The formation of these metabolites was confirmed by investigations with [4,5,9,10-14C]pyrene. 相似文献
26.
27.
Frida E. Kleiman Raquel Dodelson de Kremer Ana Oller de Ramirez Roy A. Gravel Carlos E. Argaraña 《Human genetics》1994,94(3):279-282
The level of -hexosaminidase activity in plasma and leukocytes and the frequency of three known HEXB mutations were studied in an Argentinean deme with high incidence of infantile Sandhoff disease. Two mutations were previously identified in one of two Sandhoff patients from the region, a splice mutation, IVS-2+1 GA, and a 4-bp deletion, CTTT782–785. These mutations, and a 16kb deletion from the 5' end of the HEXB gene common in non-Argentineans, were screened in 9 Sandhoff patients (all unrelated), 24 obligate heterozygotes, 33 additional individuals belonging to families with affected members, and 64 randomly ascertained individuals from the high risk region. Of 31 independent alleles examined, including those of the two patients previously reported, 30 had the IVS-2 splice mutation and only the originally reported patient had the CTTT deletion. The 16-kb deletion was not observed. Further, among the 57 unaffected members of families with a previous history of Sandhoff disease, and absolute correlation was found between carrier diagnosis by enzyme assay of leukocytes and the DNA-based tests for mutation. One of the 64 controls was classified as a carrier by enzyme assay but did not have one of the three mutations screened. We conclude that a single mutation predominates in this Argentinean population and that the DNA-based test can be an effective supplement or alternative to enzyme-based testing. 相似文献
28.
Jan Hendrickx Paul Coucke Marie-Claude Hors-Cayla G. Peter A. Smit Yoon S. Shin Johann Deutsch Jan Smeitink Ruud Berger Philip Lee John Fernandes Patrick J. Willems 《Genomics》1994,21(3)
We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However, in contrast to patients with XLG, the patients described here have no reduced phosphorylase kinase activity in erythrocytes and leukocytes, and no enzyme deficiency could be found. Linkage analysis of four families with this X-linked type of liver glycogenosis assigned the disease gene to Xp22. Lod scores obtained with the markers DXS987, DXS207, and DXS999 were 3.97, 2.71, and 2.40, respectively, all at 0% recombination. Multipoint linkage analysis localized the disease gene between DXS143 and DXS989 with a maximum lod score of 4.70 at θ = 0, relative to DXS987. As both the classical XLG gene and the liver α-subunit of PHK (PHKA2) are also located in Xp22, this variant type of XLG may be allelic to classical XLG, and both diseases may be caused by mutations in PHKA2. Therefore, we propose to classify XLG as XLG type I (the classical type of XLG) and XLG type II (the variant type of XLG). 相似文献
29.
Isolation of two novel corrinoid proteins from acetate-grown Methanosarcina barkeri. 总被引:3,自引:3,他引:0
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Two corrinoid proteins with molecular sizes of 480 and 29 kDa are stably methylated by [2-14C]acetate-derived intermediates in cell extracts of aceticlastic Methanosarcina barkeri when methylreductase is inhibited by the addition of bromoethanesulfonic acid. Both 14CH3-proteins have been isolated to near homogeneity and found to be abundant soluble proteins. The larger protein possesses two subunits, of 41.4 and 30.4 kDa, in an equimolar ratio, suggesting an alpha 6 beta 6 conformation with six bound methylated corrinoids per 480-kDa molecule. The 29-kDa protein is a monomer in solution and possesses only one methylated corrinoid. All methyl groups on both proteins are photolabile, but the methylated corrinoid bound to the 29-kDa protein undergoes photolysis at a higher rate than that bound to the 480-kDa protein. The two proteins possess discrete N termini and do not appear to be forms of the same protein in equilibrium. Neither protein has an Fe4S4 cluster, and both have UV-visible spectra most similar to that of a base-on methylated corrinoid. A previously identified methylated protein, designated the unknown A 14CH3-protein, copurifies with the 480-kDa protein and has the same subunit composition. The methyl groups of both isolated 14CH3-proteins are converted to methane in cell extracts. The methylated proteins that accumulate in extracts in the presence of bromoethanesulfonic acid are demethylated by the addition of coenzyme M. Both isolated proteins are abundant novel corrinoid proteins that can methylate and be methylated by intermediates of the methanogenic pathway. 相似文献
30.
Definition of a domain of GLVR1 which is necessary for infection by gibbon ape leukemia virus and which is highly polymorphic between species. 总被引:19,自引:16,他引:3
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Expression of human GLVR1 in mouse cells confers susceptibility to infection by gibbon ape leukemia virus (GALV), while the normally expressed mouse Glvr-1 does not. Since human and murine GLVR1 proteins differ at 64 positions in their sequences, some of the residues differing between the two proteins are critical for infection. To identify these, a series of hybrids and in vitro-constructed mutants were tested for the ability to confer susceptibility to infection. The results indicated that human GLVR1 residues 550 to 551, located in a cluster of seven of the sites that differ between the human and mouse proteins, are the only residues differing between the two which must be in the human protein form to allow infection. Sequencing of a portion of GLVR1 from the rat (which is infectible) confirmed the importance of this cluster in that it contained the only notable differences between the rat and mouse proteins. This region, which also differs substantially between the rat and the human proteins, therefore exhibits a pronounced tendency for polymorphism. 相似文献