81 resultados para Y chromosome

em Indian Institute of Science - Bangalore - Índia


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A model is suggested for mammalian male determination based on interactions postulated to occur among an autosomal repressor gene, an X-linked male-determining gene termed Tdx, and multiple copies of certain DNA sequences on the Y chromosome that do not code for any protein. The repressor, synthesised in limited amounts, has higher affinity for the Y-linked sequences than for Tdx and its affinity for Tdx is greater than that of RNA polymerase. In XY cells the Y effectively binds all available repressor, permitting transcription of Tdx to occur. In XX cells, since competition from the Y-linked high-affinity sequences is absent, the repressor binds to Tdx and prevents transcription. As a result of this competition between Tdx and the Y-linked high-affinity sites for limiting concentrations of the autosomal repressor, the product of the Tdx gene (TDX) is synthesized in the male but not in the female. It is suggested that in determination of the male sex, the role of the Y chromosome is to serve as a sink for the Tdx repressor. The proposed interactions provide a plausible explanation for the genetic properties of several anomalies of sexual development in mouse, man, and other mammals. The model suggests that the postulated multiple, highaffinity sequences on the Y chromosome of the mouse are included among the DNA sequences referred to as the Sxr-Bkm sequences.

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The evolutionary function of X chromosome inactivation is thought to be dosage compensation. However, there is, at present, little evidence to suggest that most X chromosome-linked genes require such compensation. Another view--that X chromosome inactivation may be related to sex determination--is examined here. Consider a hypothetical DNA sequence regulating a major structural gene concerned with the determination of maleness. If this regulatory sequence occurs in both X and Y chromosomes and if its copy number in the Y chromosome is significantly greater than in the X chromosome, then the male-determining properties of the Y chromosome could be attributed to this higher copy number. On the other hand, if the Y chromosome has the same copy number of this sequence as the X chromosome, it is difficult to see how determination of two sexes would occur under such circumstances because XX and XY genomes would then be indistinguishable in this regard. Such a situation seems to occur in the human species with respect to the banded krait minor satellite, a repetitious DNA sequence associated with sex determination. This apparent difficulty may be resolved if X chromosome inactivation renders regulatory as well as structural genes nonfunctional and thereby brings about a significant reduction in the effective copy number of X chromosome-linked DNA sequences concerned with sex determination. It is suggested that X chromosome inactivation brings about, in this manner, a critical inequality between XX and XY embryos and that sex determination in humans is a consequence of this inequality. An analogous situation appears to exist in certain insects in which inactivation of a haploid set of chromosomes (and presumably, therefore, a 50% reduction in the effective copy number of most genes) is associated with maleness. If this line of reasoning is correct, it would suggest that sex determination may be the primary function of X chromosome inactivation.

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High temperature reaction calorimetry using molten lead berate as solvent has been used to study the thermochemistry of NdMnO3, YMnO3, La1-xSrxMnO3 (with 0 < x < 0.5), and Ln(0.5)Ca(0.5)MnO(3) (with Ln = La, Nd, Y), The enthalpies of formation of these multicomponent oxides from their binary constituents have been calculated from the measured enthalpy of drop solution, The energetic stability of the perovskite depends on the size of the A cation, The enthalpy of formation of YMnO3 (smallest A cation) is more endothermic than those of NdMnO3 and LaMnO3. The energetics of the perovskite also depends on the oxidation state of the B site's ions. In the La1-xSrxMnO3 system, the energetic stability of the structure increases with the Mn4+/Mn3+ ratio, The new values of the enthalpies of oxidations, with reliable standard entropies, were used to plot the phase stability diagram of the lanthanum-manganese-oxygen system in the temperature range 300-1100 K, The LaMnO3/MnO phase boundary evaluated in this study agrees with the one published by Atsumi et nl. calculated from thermogravimetric and conductivity measurements.

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Several biphasic compositions of the type Y3-xBa3+xCu6O14 show an onset of superconductivity in the 90-115K range, attaining zero resistance in the 70-85K range. The phase responsible for superconductivity in these compositions is a perovskite oxide of composition YBa2Cu3 O7. This oxide annealed in oxygen shows the onset of superconductivity at 120K and zero resistance at 87K. YBa2,Cu3O7 shows the highest Meissner effect of all oxide superconductors. The superconducting behaviour of the two perovskite oxides, Y0.95Ba1.95,Cu3O7 and Y1.05Ba1.95Cu3O7 show interesting features; a marked decrease in resistivity is observed from room temperature itself in the former oxide with zero resistance at 89K. Electron microscopy and infrared spectra of these oxides are briefly discussed.

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We have investigated the structure, magnetic and dielectric properties of the double perovskite oxides, R2NiMnO6 (R = Pr, Nd, Sm, Gd, Tb, Dy, Ho and Y). We could refine powder X-ray diffraction patterns of all the phases on the basis of monoclinic (P2(1)/n) double perovskite structure where Ni and Mn atoms are ordered at 2c and 2d sites, respectively. All the phases are ferromagnetic insulators exhibiting relatively low dielectric loss and dielectric constants in the range 15-25. The ferromagnetic ordering temperature of the R2NiMnO6 series seems to correlate better with the radius of R3+ atoms than with the average Ni-O-Mn angle (phi) in the double perovskite structure. These results are consistent with all samples having Mn4+ and Ni2+ With minimal antisite disorder.

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Oxides of the Y-Ba-Cu-O system are found to show onset of superconductivity in the 100–120 K region.

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Effect of sonochemical irradiation on the conversion of 2-alkoxytetrahydrofurans to γ-butyro-1actores by Jones reagent, and its extension to the highly stereoselective synthesis of quercus lactone a, is reported.

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Molecular dynamics simulations are reported on the structure and dynamics of n-decane and 3-methylpentane in zeolite NaY. We have calculated several properties such as the center of mass-center of mass rdf, the end-end distance distribution, bond angle distribution and dihedral angle distribution. We have also analysed trajectory to obtain diffusivity and velocity autocorrelation function (VACF). Surprisingly, the diffusivity of 3-methylpentane which is having larger cross-section perpendicular to the long molecular axis is higher than n-decane at 300 K. Activation energies have been obtained from simulations performed at 200 K, 300 K, 350 K, 400 K and 450 K in the NVE ensemble. These results can be understood in terms of the previously known levitation effect. Arrhenious plot has higher value of slope for n-decane (5 center dot 9 kJ/mol) than 3-methylpentane (3 center dot 7 kJ/mol) in agreement with the prediction of levitation effect.

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We report formation of new noncentrosymmetric oxides of the formula, R3Mn1.5CuV0.5O9 for R = Y, Ho, Er, Tm, Yb and Lu, possessing the hexagonal RMnO3 (space group P6(3)cm) structure. These oxides could be regarded as the x = 0.5 members of a general series R3Mn3-3xCu2xVxO9. Investigation of the Lu-Mn-Cu-V-O system reveals the existence of isostructural solid solution series, Lu3Mn3-3xCu2xVxO9 for 0 < x <= 0.75. Magnetic and dielectric properties of the oxides are consistent with a random distribution of Mn3+, Cu2+ and V5+ atoms that preserve the noncentrosymmetric RMnO3 structure. (c) 2006 Elsevier Ltd. All rights reserved.

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PURPOSE: To report the linkage analysis of retinitis pigmentosa (RP) in an Indian family. METHODS: Individuals were examined for symptoms of retinitis pigmentosa and their blood samples were withdrawn for genetic analysis. The disorder was tested for linkage to known 14 adRP and 22 arRP loci using microsatellite markers. RESULTS: Seventeen individuals including seven affecteds participated in the study. All affected individuals had typical RP. The age of onset of the disease ranged from 8-18 years. The disorder in this family segregated either as an autosomal recessive trait with pseudodominance or an autosomal dominant trait. Linkage to an autosomal recessive locus RP28 on chromosome 2p14-p15 was positive with a maximum two-point lod score of 3.96 at theta=0 for D2S380. All affected individuals were homozygous for alleles at D2S2320, D2S2397, D2S380, and D2S136. Recombination events placed the minimum critical region (MCR) for the RP28 gene in a 1.06 cM region between D2S2225 and D2S296. CONCLUSIONS : The present data confirmed linkage of arRP to the RP28 locus in a second Indian family. The RP28 locus was previously mapped to a 16 cM region between D2S1337 and D2S286 in a single Indian family. Haplotype analysis in this family has further narrowed the MCR for the RP28 locus to a 1.06 cM region between D2S2225 and D2S296. Of 15 genes reported in the MCR, 14 genes (KIAA0903, OTX1, MDH1, UGP2, VPS54, PELI1, HSPC159, FLJ20080, TRIP-Br2, SLC1A4, KIAA0582, RAB1A, ACTR2, and SPRED2) are either expressed in the eye or retina. Further study needs to be done to test which of these genes is mutated in patients with RP linked to the RP28 locus.

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Al-4.4 a/oZn and Al-4.4 a/oZn with Ag, Ce, Dy, Li, Nb, Pt, Y, or Yb, alloys have been investigated by resistometry with a view to study the solute-vacancy interactions and clustering kinetics in these alloys. Solute-vacancy binding energies have been evaluated for all these elements by making use of appropriate methods of evaluation. Ag and Dy additions yield some interesting results and these have been discussed in the thesis. Solute-vacancy binding energy values obtained here have been compared with other available values and discussed. A study of the type of interaction between vacancies and solute atoms indicates that the valency effect is more predominant than the elastic effect.

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In the (Bi,Pb)-Sr-Cu-O system we have examined many compositions which are either metallic or semiconducting. In the Bi2-xPbx(Ca, Sr)n+1 Cun O2n+4+δ system, we have established the superconducting properties of the n = 1 to 4 members. The Tc increases from n = 1 to 3 and does not increase further when n = 4. In Bi2Ca1-x,YxSr2Cu2Oy, the Tc decreases with increase in x.

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Reaction of sodium 2-formylbenzenesulphonate (1) with thionyl chloride or phosphorous pentachloride gives a mixture of pseudo (2) and normal (3) sulphonyl chlorides. Whereas ammonium 2-carboxybenzenesulphonate (6) gives only the normal sulphonyl chloride (7) on reaction with thionyl chloride, a mixture of normal (7) and pseudo (8) isomers are formed on reaction with phosphorous pentachloride. Sodium 2-benzoylbenzenesulphonate (15), on the other hand, gives the corresponding normal sulphonyl chloride (16) on reaction with both of the reagents mentioned above. Based on these observations it is concluded that γ-keto sulphonic acids are amenable to the influence of γ-carbonyl group as in the case of γ-keto carboxylic acids but to a lesser extent. © 1989 Indian Academy of Sciences.

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Rare earth exchanged H–Y zeolites were prepared by simple ion exchange methods at 353 K and have been characterized using different physicochemical techniques. A strong peak around 58 ppm in the 27Al{1H} MAS NMR spectra of these zeolites suggests a tetrahedral coordination for the framework aluminium. Small peak at or near 0 ppm is due to hexa-coordinated extra-framework aluminium and a shoulder peak near 30 ppm is a penta-coordinated aluminium species; [Al(OH)4]−. The vapor-phase benzene alkylation with 1-decene and 1-dodecene was investigated with these catalytic systems. Under the reaction conditions of 448 K, benzene/olefin molar ratio of 20 and time on stream 3 h, the most efficient catalyst was CeH–Y which showed more than 70% of olefin conversion with 48.5% 2-phenyldecane and 46.8%, 2-phenyldodecane selectivities with 1-decene and 1-dodecene respectively.