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At least 811 records · Page 45Linked to original sources
PubMed2001

Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei.

Meiotic segregation of a t(4;8)(q28;p23) translocation carrier was determined by two different methods to compare the final results. A total of 352 sperm chromosome complements, obtained after human-hamster in vitro fertilisation, were analysed by whole chromosome painting, and 6590 sperm heads were studied by fluorescence in situ hybridisation (FISH). Frequencies of alternate, adjacent I, adjacent II and 3 : 1 segregations were, for sperm chromosomes, 35.5, 33.2, 19.9 and 11.3% respectively. For sperm head analysis, results were 30.5, 28.5, 20.5 and 19.5% respectively. There were no statistically significant differences between the two methods with respect to the observed frequencies of sperm with balanced and unbalanced chromosome constitutions. Among unbalanced gametes, the methods differed only in the frequency of 3 : 1 segregation (chi(2), P<0.0001). Different factors that could explain this result are discussed. To determine possible interchromosomal effects, multicolour FISH was used on sperm heads. Disomy rates of sex and 18 chromosomes were higher in the translocation carrier than in the control. The differences observed were statistically significant (P<0.0001 for chromosomes X and 18, and P=0.0091 for chromosome Y).

Adult↗
PubMed2002

Combined segregation and linkage analysis of HLA markers in familial psoriasis.

Marker-based segregation analysis (MBSA) is a modification of a published method of combined linkage and segregation analysis (Am J Hum Genet 51: 1111-1126, 1992), to determine whether a candidate gene known to be associated with the disease of interest is truly segregating with the disease in families. Here we outline the conceptual basis of MBSA and present a Monte Carlo method for significance testing. The method is applied to PSORS1, a locus within the major histocompatibility complex (MHC) for which linkage and linkage disequilibrium with psoriasis has already been demonstrated. The results are very consistent with our current knowledge of PSORS1, and suggest that MBSA can provide useful information on genotype-phenotype relationships such as penetrance and allelic heterogeneity.

Chromosome Mapping↗
PubMed1999

Transgressive segregation, adaptation and speciation.

The production of extreme or 'transgressive' phenotypes in segregating hybrid populations has been speculated to contribute to niche divergence of hybrid lineages. Here, we assess the frequency of transgressive segregation in hybrid populations, describe its genetic basis and discuss the factors that best predict its occurrence. From a survey of 171 studies that report phenotypic variation in segregating hybrid populations, we show that transgression is the rule rather than the exception. In fact, 155 of the 171 studies (91%) report at least one transgressive trait, and 44% of 1229 traits examined were transgressive. Transgression occurred most frequently in intraspecific crosses involving inbred, domesticated plant populations, and least frequently in interspecific crosses between outbred, wild animal species. Quantitative genetic studies of plant hybrids consistently point to the action of complementary genes as the primary cause of transgression, although overdominance and epistasis also contribute. Complementary genes appear to be common for most traits, with the possible exception of those with a history of disruptive selection. These results lend credence to the view that hybridization may provide the raw material for rapid adaptation and provide a simple explanation for niche divergence and phenotypic novelty often associated with hybrid lineages.

Adaptation, Biological↗
PubMed2005

Monte Carlo simulation of segregation in ceramic thin films.

A Monte Carlo exchange technique is used to study segregation in thin ceramic films with application to MgO/MnO. The approach is not restricted to the dilute limit. Surface concentrations as a function of temperature and film composition are determined directly from the simulations. For all compositions studied (Mn(chi)Mg(1-chi)O, 0 < or = chi < or = 1) the (001) surface is Mn(2+) rich; the occupancy of sites by Mn(2+) decreases rapidly with depth. The ratio of the number of Mn(2+) to Mg(2+) ions at the surface decreases as a function of temperature. The calculated enthalpies of segregation of Mn(2+) for the thin film are strongly dependent on the total Mn(2+) concentration at small Mn(2+) concentrations, with the enthalpy of segregation varying by a factor of two with surface coverage.

Ceramics↗
PubMed2001

Purely temporal figure-ground segregation.

Visual figure-ground segregation is achieved by exploiting differences in features such as luminance, colour, motion or presentation time between a figure and its surround. Here we determine the shortest delay times required for figure-ground segregation based on purely temporal features. Previous studies usually employed stimulus onset asynchronies between figure- and ground-containing possible artefacts based on apparent motion cues or on luminance differences. Our stimuli systematically avoid these artefacts by constantly showing 20 x 20 'colons' that flip by 90 degrees around their midpoints at constant time intervals. Colons constituting the background flip in-phase whereas those constituting the target flip with a phase delay. We tested the impact of frequency modulation and phase reduction on target detection. Younger subjects performed well above chance even at temporal delays as short as 13 ms, whilst older subjects required up to three times longer delays in some conditions. Figure-ground segregation can rely on purely temporal delays down to around 10 ms even in the absence of luminance and motion artefacts, indicating a temporal precision of cortical information processing almost an order of magnitude lower than the one required for some models of feature binding in the visual cortex [e.g. Singer, W. (1999), Curr. Opin. Neurobiol., 9, 189-194]. Hence, in our experiment, observers are unable to use temporal stimulus features with the precision required for these models.

Adolescent↗
PubMed2000

Wolbachia segregation rate in Drosophila simulans naturally bi-infected cytoplasmic lineages.

Wolbachia are maternally transmitted endocellular bacteria infecting several arthropod species. In order to study Wolbachia segregation rate, Drosophila simulans females from an Indo-Pacific population (Seychelles) bi-infected by the two Wolbachia variants wHa and wNo were backcrossed to uninfected males in two conditions. In the first case, Seychelles males from a stock cured from its Wolbachia by tetracycline treatment were used. In the second case, the males came from a naturally uninfected Tunisian population. It was found that (i) the two Wolbachia variants can segregate, so that bi-infected females can produce a few offspring infected only by wHa or wNo. This occurs in both backcross conditions. (ii) Segregation leads more frequently to wHa than to wNo mono-infection. (iii) Wolbachia transmission is lower when the Seychelles genome is introgressed by the Tunisian genome, suggesting that host genomic factors might influence infection fate.

Animals↗
PubMed1998

Segregation of HLA genes in multicase narcolepsy families.

In the past 15 years, 411 sporadic narcolepsy patients have been diagnosed in the Hephata Klinik, Schwalmstadt, Germany. They were explored for presence or absence of excessive daytime sleepiness and narcolepsy in their relatives. A subset of 39 patients were explored for presence or absence of parasomnias. Six patients had more than one relative affected by narcolepsy-cataplexy. Forty-seven family members were investigated with the Stanford Center for Narcolepsy Sleep Inventory and a standardized parasomnia questionnaire. Twenty-four relatives had nocturnal polysomnographies and Multiple Sleep Latency Tests. HLA class I typing was performed in all sporadic and familial cases, class II and microsatellite typing was performed in all members of multicase families. Based on the Finnish prevalence study by Hublin et al., 1994, the relative risk for first degree relatives to develop narcolepsy-cataplexy was in our sample 16.5, 34.2 for excessive daytime sleepiness and 426.9 for parasomnias. Cataplexy, excessive daytime sleepiness and single narcoleptic symptoms in the multicase families segregate with the DRBI*1501, CARII:200, CARI: 103, DQBI*0602 haplotype. In two families, members with narcolepsy and isolated symptoms have inherited the DRBI*1501/DQBI*0602 haplotype from the nonaffected parent. The observed segregations in these two families may support the view that narcoleptic symptoms are expressed by DRBI*1501/DQBI*0602 carriers, independent of haplotype origin. Parasomnias do not segregate with a specific haplotype. The frequency of parasomnias in narcolepsy is much higher than in the general population. The empirical risk for first degree family members of narcolepsy patients to develop cataplexy seems to be low, whereas it is higher for EDS and highest for parasomnias.

Adult↗
PubMed2003

Signaling pathway from [Ca2+]i transients to ooplasmic segregation involves small GTPase rho in the ascidian egg.

Intracellular Ca2+ transients occur at fertilization in the eggs of all animal species and are thought to be critical for the initiation of several events in egg activation. The rho family of small GTPases are known to organize and maintain the actin filament-dependent cytoskeleton, and rho is involved in the control mechanism of cytokinesis. In the ascidian Ciona savignyi, the first step of ooplasmic segregation observed just after fertilization is cortical contraction with egg deformation, mediated by the cortical actin filaments. C3 exoenzyme, a rho-specific inhibitor, did not affect the pattern of [Ca2+]i transients in the ascidian egg, but inhibited ooplasmic segregation and cytokinesis at the first cleavage. Injection of inositol 1,4,5-trisphosphate or treatment of Ca2+ ionophore induced deformation of the egg and extrusion of the first polar body, but these phenomena did not occur in the C3 exoenzyme-injected egg. These results suggest that rho proteins are involved in egg deformation, ooplasmic segregation and cytokinesis downstream of the [Ca2+]i transients.

Actins↗
PubMed1999

Mixing and segregation of granular materials in chute flows.

Mixing of granular solids is invariably accompanied by segregation, however, the fundamentals of the process are not well understood. We analyze density and size segregation in a chute flow of cohesionless spherical particles by means of computations and theory based on the transport equations for a mixture of nearly elastic particles. Computations for elastic particles (Monte Carlo simulations), nearly elastic particles, and inelastic, frictional particles (particle dynamics simulations) are carried out. General expressions for the segregation fluxes due to pressure gradients and temperature gradients are derived. Simplified equations are obtained for the limiting cases of low volume fractions (ideal gas limit) and equal sized particles. Theoretical predictions of equilibrium number density profiles are in good agreement with computations for mixtures of equal sized particles with different density for all solids volume fractions, and for mixtures of different sized particles at low volume fractions (nu<0.2), when the particles are elastic or nearly elastic. In the case of inelastic, frictional particles the theory gives reasonable predictions if an appropriate effective granular temperature is assumed. The relative importance of pressure diffusion and temperature diffusion for the cases considered is discussed. (c) 1999 American Institute of Physics.

Journal Article↗
PubMed2005

Monte Carlo simulations of segregation in Pt-Ni catalyst nanoparticles.

We have investigated the segregation of Pt atoms in the surfaces of Pt-Ni nanoparticles, using modified embedded atom method potentials and the Monte Carlo method. The nanoparticles are constructed with disordered fcc configurations at two fixed overall concentrations (50 at. % Pt and 75 at. % Pt). We use octahedral and cubo-octahedral nanoparticles terminated by {111} and {100} facets to examine the extent of the Pt segregation to the nanoparticle surfaces at T=600 K. The model particles contain between 586 and 4033 atoms (particle size ranging from 2.5 to 5 nm). Our results imply that a complete {100}-facet reconstruction could make the cubo-octahendral Pt-Ni nanoparticles most energetically favorable. We predict that at 600 K due to segregation the equilibrium cubo-octahedral Pt50Ni50 nanoparticles with fewer than 1289 atoms and Pt75Ni25 nanoparticles with fewer than 4033 atoms would achieve a surface-sandwich structure, in which the Pt atoms are enriched in the outermost and third atomic shells while the Ni atoms are enriched in the second atomic shell. We also find that, due to an order-disorder transition, the Pt50Ni50 cubo-octahedral nanoparticles containing more than 2406 atoms would form a core-shell structure with a Pt-enriched surface and a Pt-deficient homogenous core.

Journal Article↗
PubMed2005

A computer simulation study of the segregation of amphiphiles in binary immiscible matrices: short asymmetric copolymers in short homopolymers.

The bulk and interfacial properties of ternary mixtures with asymmetric amphiphiles (A2B8) in A2 and B2 matrices and in A2 and B10 matrices are investigated by the dissipative particle dynamics type of molecular-dynamics simulations. The monomer concentrations of A2B8(phiA2B8) studied are below the critical micelle concentration (phiA2B8(cmc)) for the formation of micelles in the presence of an adsorbed amphiphilic monolayer at the interface. Macrophase separation from the mixed phase to the segregated state with A-rich and B-rich coexisting phases and the segregation of A2B8 at the interface are thermodynamically gradual but are accompanied by a pronounced stretching and orientation of the constituent chains. The segregation of A2B8 at the interface broadens the interfacial region and reduces the interfacial tension. The chain conformation of the asymmetric amphiphilic molecules and the interfacial properties are dominated by the majority block in the amphiphilic chain and dependent on the composition of the matrix in contact with the majority block. In the A2 and B2 matrices, the B8 blocks in A2B8 chains at the interface resemble a wet brush swollen by short B2 chains. Swelling is responsible for the pronounced stretching and orienting of the amphiphilic chains and the reduced interfacial amphiphile enrichment. At the same interfacial amphiphile excess, however, swollen amphiphiles are more efficient in reducing the interfacial tension than nonswollen amphiphiles.

Journal Article↗
PubMed2004

Shape control through molecular segregation in giant surfactant aggregates.

Mixtures of cationic and anionic surfactants crystallized at various ratios in the absence of added salt form micrometer-sized colloids. Here, we propose and test a general mechanism explaining how this ratio controls the shape of the resulting colloidal structure, which can vary from nanodiscs to punctured planes; during cocrystallization, excess (nonstoichiometric) surfactant accumulates on edges or pores rather than being incorporated into crystalline bilayers. Molecular segregation then produces a sequence of shapes controlled by the initial mole ratio only. Using freeze-fracture electron microscopy, we identified three of these states and their corresponding coexistence regimes. Fluorescence confocal microscopy directly showed the segregation of anionic and cationic components within the aggregate. The observed shapes are consistently reproduced upon thermal cycling, demonstrating that the icosahedral shape corresponds to the existence of a local minimum of bending energy for facetted icosahedra when the optimal amount of excess segregated material is present.

Journal Article↗
PubMed2005

Barrier-to-autointegration factor is required to segregate and enclose chromosomes within the nuclear envelope and assemble the nuclear lamina.

Barrier-to-autointegration factor (BAF) binds dsDNA, LEM-domain proteins, and lamins. Caenorhabditis elegans BAF requires Ce-lamin and two LEM-domain proteins (Ce-emerin and Ce-MAN1) to localize during nuclear assembly. It was unknown whether Ce-lamin and LEM proteins, in turn, depend on Ce-BAF (mutually dependent structural roles). RNA interference-mediated down-regulation of Ce-BAF caused gross defects in chromosome segregation, chromatin decondensation, and mitotic progression as early as the two-cell stage, and embryos died at the approximately 100-cell stage. Nuclear pores reassembled, whereas Ce-lamin, Ce-emerin, and Ce-MAN1 bound chromatin but remained patchy and disorganized. The nuclear membranes formed but failed to enclose anaphase-bridged chromatin. Time-lapse imaging showed two phenotypes: anaphase-bridged chromatin that eventually resolved, and segregated chromatin that returned to the midzone. Thus, the assembly of BAF, lamins, and LEM-domain proteins is mutually dependent, and is required to capture segregated chromosomes within the nascent nuclear envelope. Embryos that escaped lethality by down-regulation of Ce-BAF grew into sterile adults with misplaced distal tip cells and gonads, further suggesting that mild postembryonic reductions in BAF disrupt tissue-specific functions.

Amino Acid Sequence↗
PubMed1969

Dysfunctional sperm production in Drosophila melanogaster males homozygous for the segregation distorter elements.

Drosophila males heterozygous for the segregation distorter chromosome show a reduction in fecundity which is correlated with the degree of distortion of their segregation ratio. When males are made homozygous for the segregation distorter elements, their fecundity is lowered to just that extent expected if each SD were independently causing the sperms carrying the other to dysfunction. In three cases tested, Sd Ac/Ac, Sd Ac/Sd Ac, and Sd Ac St/Sd Ac St, the fecundity of the males is consistent with the dysfunction model, whereas the females are normal. The Sd Ac St/Sd Ac St males are almost completely sterile. They do produce sperms, however, which are motile and which look morphologically normal in the phase contrast microscope. They are transferred to the female during copulation and are stored in apparently normal numbers in the seminal receptacle and spermathecae.

Animals↗
PubMed1979

Conservative segregation of parental histones during replication in the presence of cycloheximide.

Long stretches of protein-free, nonbeaded DNA were observed electron microscopically in nuclear spreads prepared from cells that had replicated their DNA in the absence of protein synthesis. The amount of this DNA increased with increasing time of replication in the presence of cycloheximide and was greatly decreased when replication was inhibited with 1-beta-D-arabinofuranosylcytosine (cytosine arabinoside). This DNA is considered to be "free" DNA because it has the same diameter as marker PM2 DNA and it is preferentially sensitive to DNase I digestion. Reversal of the cycloheximide block resulted in a burst of histone synthesis and repair of the depleted chromatin within 5 min. In addition, 26 presumptive replication forks were observed with beaded chromatin on two arms and free DNA on the third. These results suggest that new histones are usually deposited onto new DNA, that the cellular histone pool is very small, that histone migration is minimal in vivo for at least 18 hr, that for most fibers nuclesome assembly and segregation is conservative for stretches of DNA as long as 100 kbases, and that some part of the octameric histone core may remain bound to DNA during the replication process. The regularity we have observed for the assembly and segregation of nucleosomes is likely to be important for our understanding of how chromosomal information is segregated during development.

Cell Line↗
PubMed1979

Segregation of pre-stalk and pre-spore cells of Dictyostelium discoideum: observations consistent with selective cell cohesion.

Aggregating Dictyostelium discoideum cells were dissociated and separated into two populations, pre-stalk and pre-spore cells, by centrifugation in a Percoll gradient. After harvesting, one population of cells was labeled with fluorescein isothiocyanate and the other with tetramethylrhodamine isothiocyanate. Equal numbers of the two cell populations were then mixed and observed while they aggregated and differentiated to form fruiting bodies. Within minutes after mixing, the two populations showed evidence of segregation and tended to form separate streams of cells as they migrated toward aggregation centers. Many separate clusters of tetramethylrhodamine isothiocyanate-labeled or fluorescein isothiocyanate-labeled cells were found within an aggregation center. Thereafter there was further segregation. The denser cells from the gradient tended to assume the position of stalk cells whereas the lighter cells migrated to the position characteristic of spore cells. The patterns of segregation suggest that selective cohesiveness of one or both cell types plays a role in morphogenesis.

Cell Aggregation↗
PubMed1985

Detection of simple polygenic segregations in a natural population.

Penetrance frequencies were used to quantify segregating polygenic effects in a natural population of Drosophila melanogaster. When males from a series of 100 isofemale strains were crossed to females from a veinlet (ve) line that had been selected for shortened veins, gaps commonly appeared in the fifth longitudinal (L5) vein in the ve/+ heterozygotes. We were able to assign each strain to one of six significantly different clusters, based upon the pattern of polygenic modifiers of ve dominance segregating in each strain. We conclude that the extensive range of phenotypic variation in vein-forming ability is actually based upon a relatively simple underlying polygenic structure that is consistent with segregation of only a small number of alleles or allele combinations in the wild population.

Journal Article↗
PubMed1990

Mutants of Saccharomyces cerevisiae that block intervacuole vesicular traffic and vacuole division and segregation.

Intervacuole vesicular exchange and the segregation of parental vacuole material into the bud are strikingly impaired in a temperature-sensitive yeast mutant, vac1-1. At the nonpermissive temperature, haploid vac1-1 cells show a pronounced delay in separation of mature buds from the mother cell and accumulate cells with multiple buds. At both the permissive and restrictive temperatures, daughter cells are produced that lack a detectable vacuole or contain a very small vacuole. In zygotes, vacuoles from a vac1-1 strain are defective as donors, or recipients, of the vesicles of intervacuole vesicular traffic. These defects are specific for the vacuole in that the segregation of nuclear DNA and of mitochondria into the bud appears normal. The isolation of the vac1-1 mutation is a first step in the genetic characterization of vacuole division and segregation.

Cell Nucleus↗