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PubMed1988

Segregation of HLA-DR, -DQ and -DP phenotypes and restriction fragment length polymorphic fragments in two recombinant families.

Members of two families were typed for HLA-DR, -DQ and -DP specificities by means of sera and local PLT bulk reagents. One B:C and one DR:DP cross-over were identified in both families. The restriction fragment length polymorphism (RFLP) was analyzed by southern blotting and the use of DR beta, DR alpha, DQ beta, DQ alpha, DP beta and DP alpha probes. Previous observations concerning typical RFLP patterns for serological DR/DQ- and cellular DP-specificities were confirmed. With respect to recombinant haplotypes, RFLP was informative in both families. All polymorphic fragments-(DRB, DQA and B as well as DPA and B)-segregated together in the HLA-B:DR cross-overs. In the DR:DP recombinant children, the DR and DQ fragments were separated from DP fragments, demonstrating that DP-types as defined by PLT and RFLP map close together. No cross-hybridization between the segregating fragments was detected with the various probes.

Female↗
PubMed1989

Co-segregation of HLA and rheumatoid arthritis in multicase families.

Inheritance of parental HLA haplotypes was examined in the offspring of 95 multicase rheumatoid arthritis (RA) families. Overall, in these families there was no evidence of preferential transmission of one parental haplotype, although this might have been expected given the loading of these families with RA cases. However, there was a difference in inheritance when the affected and non-affected offspring were compared. A co-segregation analysis showed that the inheritance of parental HLA haplotypes was different between the affected and the unaffected offspring. Unlike a previous report, no difference was demonstrated in this study between the offspring of affected and non-affected parents. Similarly, the affected offspring of HLA DR4 heterozygote parents were more likely to inherit HLA DR4 than the non-affected offspring. It is concluded first that linkage studies of RA using the affected sib-pair method are not invalidated, which would have been the case in the presence of preferential transmission of HLA to all offspring. Secondly, HLA and specifically HLA-DR4 does co-segregate with RA, and, finally, parental RA status, independent of DR4, has little influence in explaining the genetic susceptibility to RA.

Arthritis, Rheumatoid↗
PubMed1990

Two-disease-locus model: segregation analysis using information on two markers in nuclear families. Application to IDDM.

In the present paper, an extension of segregation analysis is proposed using information on the joint segregation of two unlinked markers conditional on the disease status in nuclear families, in order to consider two-locus models with one locus linked to the first marker and the other linked to the second marker. We propose tests for examining evidence for the effect of genes located at these two loci and whether this effect is multiplicative or not. This method is then applied to a sample of IDDM families typed for the HLA and Gm markers to test, in addition to a factor of the HLA region, the potential involvement of the Gm system in the susceptibility to IDDM. The analysis does not provide evidence for such an involvement.

Chromosome Mapping↗
PubMed1992

Study of HLA segregation in 479 thalassemic families.

479 families, each with a proband affected by homozygous beta-thalassemia, were typed for HLA. 224 families with a total of 1020 members were typed for the HLA-A, B, C, DR and DQ loci and 255 families with 1046 family members, were typed for the HLA-A, B, and C loci. Altogether, 896 A, B, C, DR and DQ haplotypes and 1020 A, B and C haplotypes were defined. At the same time, 120 healthy unrelated individuals from the same population were typed and used as controls. The analysis of the results was carried out at antigen, allele, haplotype, genotype and sex ratio level with the aim of looking on the one hand, for the existence of heterogeneity between the probands, the unrelated individuals and the healthy siblings and, on the other, for the existence of any distortion whatsoever of the HLA segregation in either the probands or in the healthy siblings in respect of the expected values according to the Mendelian equilibrium. No significant differences were evident between the probands and the controls by the tests carried out at different levels of the HLA system. This leads us to exclude the existence of an association between beta-thalassemia and HLA in the population studied. Moreover, the analysis of the transmission of the alleles, the haplotypes, the genotypes and the sex-ratio by parents to both affected and to healthy children did not show any clear evidence of segregation distortion in respect of the theoretical values.

Alleles↗
PubMed2004

von Willebrand's disease and psychotic disorders: co-segregation and genetic associations.

OBJECTIVES: To evaluate co-segregation and genetic associations between von Willebrand's disease (vWD) and psychotic disorders. METHODS: The study was initiated following ascertainment of a nuclear family in which four members were diagnosed with vWD and psychotic/mood disorders. As co-segregation was uncertain in the extended pedigree, we also investigated population-based linkage and association using polymorphisms of vWF, the gene conferring susceptibility to vWD. Three common vWF polymorphisms were investigated among 194 patients with psychotic disorders (bipolar I disorder, BD I; schizoaffective disorder, SZA and schizophrenia, SZ) and their parents. The cases were also compared with unrelated population-based controls (n = 183). RESULTS: The transmission disequilibrium test and related analyses suggested nominally significant transmission distortion of one allele and related haplotypes to the probands from their parents. The most significant results were obtained among patients with BD I, and similar trends were also evident in the SZ sample. Comparisons between the cases and population-based controls did not reveal associations, though marginally significant case-control differences were obtained in the BD I sample. CONCLUSIONS: These studies are consistent with association and linkage between vWF and BD I. However, given the relatively small sample, stochastic variation is an alternative explanation.

Adult↗
PubMed1983

Freeze-fracture analysis of membrane appression and protein segregation in model membranes containing the chlorophyll-protein complexes from chloroplasts.

Cation-induced membrane appression and lateral segregation of chlorophyll-protein complexes have been investigated by freeze-fracture analysis of model membranes containing photosystem 1 and the light-harvesting complex of photosystem 2. In light-harvesting complex proteoliposomes, cations caused extensive membrane adhesion and a segregation of protein into appressed regions. A marked flattening of the appressed membranes, sometimes together with a co-alignment of the particles on the opposing membrane faces, strongly suggests a direct transmembrane attraction between the protein particles. Photosystem 1 membranes were not appressed by cations but some clustering of the particles occurred, together with their exclusion from some regions of the lipid. By incorporating dipalmitoylglycerophosphocholine into the membranes, it is shown that a similar exclusion of the particles can occur due to liquid-crystalline to gel state transitions of the lipids. Proteoliposomes containing both the light-harvesting complex and photosystem 1 displayed cation-induced membrane appression, but only between regions containing the light-harvesting complex. Photosystem 1 was largely confined to unappressed membranes. Destacking occurred at low salt concentrations irrespective of whether photosystem 1 was present, showing that in proteoliposomes, and probably in thylakoids, this process does not require the presence of highly charged complexes from unappressed regions.

Cations↗
PubMed2006

Mitochondrial activity, distribution and segregation in bovine oocytes and in embryos produced in vitro.

Contents Bovine oocytes and embryos produced in vitro were studied to determine the mitochondrial pattern of distribution, segregation and activity using DIOC 6 and Jc-1 fluorescence. The highest fluorescence level observed in mature oocytes was taken as 100% activity and six activity levels were estimated as follows: (1) 0%, (2) 1-15%, (3) 16-30%, (4) 31-50%, (5) 51-75% and (6) 76-100%. Three patterns of mitochondrial distribution were found: (1) diffused throughout the cytoplasm in oocytes and embryos, (2) pericytoplasmic in oocytes and embryos, and (3) perinuclear only in embryos. The segregation of mitochondria in blastomeres showed two distinct patterns: (1) symmetrical with an even mitochondrial population, and (2) asymmetrical with different numbers of mitochondria in each blastomere. In immature oocytes, mitochondrial activity was very low and the distribution was diffuse or negligible, while in mature oocytes the activity was high and the distribution was diffuse or pericytoplasmic. Competent embryos up to the 16-cell stage showed intermediate levels of activity (16-50%) but activity decreased thereafter up to the blastocyst stage. Non-competent embryos showed low levels of activity (1-15%) at all stages. These results suggest that mitochondria might play an important role during early development and that a minimum threshold of activity regulates the potential competence for reaching the blastocyst stage.

Animals↗
PubMed1997

Figure-ground segregation at contours: a neural mechanism in the visual cortex of the alert monkey.

An important task of vision is the segregation of figure and ground in situations of spatial occlusion. Psychophysical evidence suggests that the depth order at contours is defined early in visual processing. We have analysed this process in the visual cortex of the alert monkey. The animals were trained on a visual fixation task which reinforced foveal viewing. During periods of active visual fixation, we recorded the responses of single neurons in striate and prestriate cortex (areas V1, V2, and V3/V3A). The stimuli mimicked situations of spatial occlusion, usually a uniform light (or dark) rectangle overlaying a grating texture of opposite contrast. The direction of figure and ground at the borders of these rectangles was defined by the direction of the terminating grating lines (occlusion cues). Neuronal responses were analysed with respect to figure-ground direction and contrast polarity at such contours. Striate neurons often failed to respond to such stimuli, or were selective for contrast polarity; others were non-selective. Some neurons preferred a certain combination of figure-ground direction and contrast polarity. These neurons were rare both in striate and prestriate cortex. The majority of neurons signalled figure-ground direction independent of contrast polarity. These neurons were only found in prestriate cortex. We explain these responses in terms of a model which also explains neuronal signals of illusory contours. These results suggest that occlusion cues are used at an early level of processing to segregate figure and ground at contours.

Animals↗
PubMed1976

The segregation of human chromosome polymorphisms.

The inheritance of C-band and Q-band polymorphisms have been investigated in 32 families. C-band inversion and size polymorphisms appear to segregate in a Mendelian manner, with the possible exception of the very large variant of chromosome number 9 which may be selectively inherited. There is some evidence to suggest a preferential segregation of Brilliant Q-band polymorphisms but it may be that this is an artifact caused by insufficient data and scoring error.

Blood Cells↗
PubMed2006

Elucidating the murine brain transcriptional network in a segregating mouse population to identify core functional modules for obesity and diabetes.

Complex biological systems are best modeled as highly modular, fluid systems exhibiting a plasticity that allows them to adapt to a vast array of changing conditions. Here we highlight several novel network-based approaches to elucidate genetic networks underlying complex traits. These integrative genomic approaches combine large-scale genotypic and gene expression results in segregating mouse populations to reconstruct reliable genetic networks underlying complex traits such as disease or drug response. We apply these novel approaches to one of the most extensive surveys of gene expression studies ever undertaken in whole brain in a segregating mouse population. More than 23,000 genes were monitored in whole brain samples from more than 300 mice derived from an F2 intercross population and genotyped at over 1200 SNP markers uniformly spread over the entire genome. We explore the topological properties of the brain transcriptional network and highlight different approaches to inferring causal associations among genes by integrating genotypic and expression data. We demonstrate the utility of these approaches by identifying and experimentally validating brain gene expression traits predicted to respond to a strong expression quantitative trait locus (eQTL) for the pituitary tumor-transforming 1 gene (Pttg1) that coincides with the physical location of this gene (a cis eQTL). We identify core functional modules making up the brain transcriptional network in mice that are coherent for core biological processes associated with metabolic disease traits including obesity and diabetes.

Animals↗
PubMed2004

Familial segregation of venous thromboembolism.

BACKGROUND: Venous thromboembolism (VTE) is postulated as a complex disease, but the heritability and mode of inheritance are uncertain. OBJECTIVE: To determine if VTE (i) segregates in families; (ii) is attributable to inheritance, shared environment, or both; and (iii) the possible mode of inheritance. PATIENTS AND METHODS: In a family-based study of relatives from 751 probands (60% female) with objectively diagnosed VTE (without cancer), we performed complex segregation analyses corrected for mode of ascertainment, considering age-specific, non-gender- and gender-specific liability classes under Mendelian and non-Mendelian assumptions. We tested 12 models categorized into four model sets: (i) sporadic (assumes no genetic effect); (ii) Mendelian inheritance of a major gene (including dominant, additive, recessive or codominant classes); (iii) mixed model (Mendelian inheritance including the same four classes plus the effect of polygenes); and (iv) non-Mendelian. RESULTS: Among the 16 650 relatives, 753 (48% female) were affected with VTE, of whom 62% were first-degree relatives. The sporadic model was rejected in both non-gender- and gender-specific liability class analyses. Among the remaining gender-specific models, the unrestricted (non-Mendelian) inheritance model was favored with an estimated heritability of 0.52. Among the Mendelian models, the dominant mixed model was preferred, with an estimated heritability and major disease allele frequency of 0.62 and 0.25, respectively, suggesting an effect of several minor genes. CONCLUSION: A multifactorial non-Mendelian inheritance model was favored as the cause for VTE, while a model postulating a purely environmental cause was rejected. VTE is probably a result of multigenic action as well as environmental exposures.

Adolescent↗
PubMed1983

Induced autophagocytosis in macrophages. Origin of the segregating membranes.

Cultured mouse peritoneal macrophages were exposed for 48 h to a large and toxic dose of polyacrylamide microspheres (previously designed for use as a lysosomotropic carrier for the intracellular delivery of enzymes and other macromolecules). This treatment induced autophagocytosis in the macrophages, which contained abundant autophagic vacuoles at 24 h post exposure. Transmission electron microscopical studies including enzyme cytochemistry showed that the segregating membranes in autophagosome formation consisted of flattened, smooth-surfaced vacuoles with a granular matrix in which reaction product indicating acid phosphatase activity could be demonstrated. The autophagic vacuole formation was apparently effected by wrapping of a portion of the cytoplasm in a sheet formed by flattening and fusion of multiple small vacuoles with acid phosphatase activity in their matrices. The conclusion is drawn that the segregating membranes are derived from lysosomes or GERL structures in this particular system of induced autophagocytosis.

Acrylic Resins↗
PubMed1983

Cellular autophagocytosis induced by X-irradiation and vinblastine. On the origin of the segregating membranes.

Autophagocytosis was induced in cultured, human glial cells by X-irradiation or exposure to vinblastine sulphate. A transmission electron microscopic investigation of the origin of the segregating membranes in the autophagic process was performed by labelling of endocytotic vacuoles and lysosomes with electron-dense marker particles (native and cationized ferritin, colloidal gold and thorium dioxide). Cytochemical demonstration of the lysosomal marker enzyme acid phosphatase and serial sectioning of the cells were also carried out. The majority of newly formed, double-membrane bounded autophagic vacuoles were devoid of markers for both lysosomes and endocytotic vacuoles. Moreover, no evidence of origin from the endoplasmic reticulum was found and the segregating membranes of this type of autophagic vacuoles were, by process of elimination, considered likely to be derived from Golgi vacuoles or, possibly, assembled de novo. Autophagy also appeared to be effected through an alternative pathway involving a lysosomal wrapping or microautophagic mechanism.

Acid Phosphatase↗
PubMed1983

Kinetics of product formation and plasmid segregation in recombinant microbial populations.

Experimental and mathematical analysis of productivity of cultures containing recombinant plasmids is based in this work on the following paradigm: molecular controls leads to single cell kinetics leads to cell population dynamics leads to reactor productivity. Mathematical models have been developed for replication control of the lambda dv plasmid and for efficiency of the lac promoter-operator based on the molecular control mechanisms of these systems in Escherichia coli. A special and important attribute of these models is their ability to describe quantitatively a wide range of genetic effects as well as environmental influences on molecular control function. Equations describing plasmid maintenance and distribution in growing cell cultures have been determined based on the population-balance equations applicable to a segregated culture model. The washout dilution rate for continuous cultivation of plasmid-containing Saccharomyces cerevisiae in selective medium is given in terms of single-cell division-cycle parameters and plasmid copy number for one single-cell model of plasmid replication and segregation. A new experimental method based on flow cytometry for rapid characterization of heterogeneity of single-cell accumulation of a plasmid gene product is also described. Generalization of these methods and of the overall strategy should provide a useful framework for synthesis of biological and engineering principles and methods to optimize organisms and processes based on recombinant DNA technology.

Bacteria↗
PubMed2004

Simulations of cochlear implant hearing using filtered harmonic complexes: implications for concurrent sound segregation.

Two experiments used simulations of cochlear implant hearing to investigate the use of temporal codes in speech segregation. Sentences were filtered into six bands, and their envelopes used to modulate filtered alternating-phase harmonic complexes with rates of 80 or 140 pps. Experiment 1 showed that identification of single sentences was better for the higher rate. In experiment 2, maskers (time-reversed concatenated sentences) were scaled by -9 dB relative to a target sentence, which was added with an offset of 1.2 s. When the target and masker were each processed on all six channels, and then summed, processing the masker on a different rate to the target improved performance only when the target rate was 140 pps. When the target sentence was processed on the odd-numbered channels and the masker on the even-numbered channels, or vice versa, performance was worse overall, but showed similar effects of pulse rate. The results, combined with recent psychophysical evidence, suggest that differences in pulse rate are unlikely to prove useful for concurrent sound segregation.

Adolescent↗
PubMed2005

Precedence-based speech segregation in a virtual auditory environment.

When a masking sound is spatially separated from a target speech signal, substantial releases from masking typically occur both for speech and noise maskers. However, when a delayed copy of the masker is also presented at the location of the target speech (a condition that has been referred to as the front target, right-front masker or F-RF configuration), the advantages of spatial separation vanish for noise maskers but remain substantial for speech maskers. This effect has been attributed to precedence, which introduces an apparent spatial separation between the target and masker in the F-RF configuration that helps the listener to segregate the target from a masking voice but not from a masking noise. In this study, virtual synthesis techniques were used to examine variations of the F-RF configuration in an attempt to more fully understand the stimulus parameters that influence the release from masking obtained in that condition. The results show that the release from speech-on-speech masking caused by the addition of the delayed copy of the masker is robust across a wide variety of source locations, masker locations, and masker delay values. This suggests that the speech unmasking that occurs in the F-RF configuration is not dependent on any single perceptual cue and may indicate that F-RF speech segregation is only partially based on the apparent left-right location of the RF masker.

Acoustic Stimulation↗
PubMed2006

Binaural segregation in multisource reverberant environments.

In a natural environment, speech signals are degraded by both reverberation and concurrent noise sources. While human listening is robust under these conditions using only two ears, current two-microphone algorithms perform poorly. The psychological process of figure-ground segregation suggests that the target signal is perceived as a foreground while the remaining stimuli are perceived as a background. Accordingly, the goal is to estimate an ideal time-frequency (T-F) binary mask, which selects the target if it is stronger than the interference in a local T-F unit. In this paper, a binaural segregation system that extracts the reverberant target signal from multisource reverberant mixtures by utilizing only the location information of target source is proposed. The proposed system combines target cancellation through adaptive filtering and a binary decision rule to estimate the ideal T-F binary mask. The main observation in this work is that the target attenuation in a T-F unit resulting from adaptive filtering is correlated with the relative strength of target to mixture. A comprehensive evaluation shows that the proposed system results in large SNR gains. In addition, comparisons using SNR as well as automatic speech recognition measures show that this system outperforms standard two-microphone beamforming approaches and a recent binaural processor.

Environment↗
PubMed1979

Tone-segregation by phase: on the phase sensitivity of the single ear.

A monaural complex tone is synthesized from 12 harmonically related pure tones, played in phase. In each of 12 segments, one of the tones (the target) is played out of phase so that the sequence of targets is increasing or decreasing in frequency. If the target is at least 30 degrees out of phase, the targets are perceptually segregated. This tone-segregation by phase raises doubts concerning several current theories of pitch perception. The phenomenon is conjectured to be caused by the ear's nonlinear compressive transfer characteristic or by a temporal analysis of the stimulus.

Acoustic Stimulation↗