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PubMed2004

The association between sex segregation, working conditions, and sickness absence among employed women.

AIMS: To analyse the association between sickness absence and sex segregation of occupation and of work site, respectively, and to analyse work environmental factors associated with high sickness absence. METHODS: The study group consisted of 1075 women employed as nurses, assistant nurses, medical secretaries, or metal workers who answered a questionnaire comprising 218 questions on women's health and living conditions. Sickness absence was collected from employers' and social insurance registers. RESULTS: Women working in the male dominated occupation had in general higher sickness absence compared to those working in female dominated occupations. However, metal workers at female dominated work sites had 2.98 (95% CI 2.17 to 3.79) sick-leave spells per woman and year compared to 1.70 (95% CI 1.29 to 2.10) among those working with almost only men. In spite of a better physical work environment, female metal workers at a female dominated work site had a higher sickness absence than other women, which probably could be explained by the worse psychosocial work environment. Working with more women also had a positive association to increased frequency of sick-leave spells in a multivariate analysis including several known indicators of increased sick-leave. CONCLUSIONS: There was an association between sickness absence and sex segregation, in different directions at the occupational and work site level. The mechanism behind this needs to be more closely understood regarding selection in and out of an occupation and a certain work site.

Adolescent↗
PubMed1989

Meiotic chromosome segregation in human t(11;22)(q23;q11) carriers: a theoretical consideration.

The t(11;22)(q23;q11) translocation is the most frequently encountered familial reciprocal translocation in humans. In the majority of reported cases ascertainment has been through the birth of a child with the chromosomal constitution 47,XX,+der(22) or 47,XY,+der(22), i.e., tertiary trisomy. Previous segregation analysis of familial cases showed a number of interesting features. Thus, euploid unbalanced genotypes resulting from adjacent segregation are absent in the progeny, and only tertiary trisomic offspring are recovered. To explain this unusual progeny output we present here a model for the meiotic behavior of this translocation in the carriers based on an analysis of cytogenetic data of progeny of carriers. This model predicts the formation of a chain trivalent with chromosome order 11-der(11)-22 during prophase I and its predominant alternate orientation at metaphase I.

Chromosomes, Human, Pair 11↗
PubMed1990

Abnormal genetic segregation associated with the presence of a Y. w+ chromosome in Drosophila melanogaster.

We have observed an abnormal genetic segregation in the progeny of crosses between males of the F71 (y wa/Y.w+) strain and females of various strains carrying marker mutations on their chromosome 2. The Y.w+ chromosome, previously described as possibly being associated with a translocation of the 22D region of chromosome 2, was shown to carry the 21A1-22E4 tip of the 2L chromosome. One chromosome 2 of F71 had a deletion of this region. The abnormal genetic segregation observed in the progeny of different crosses can be explained both by the partial lethality (which becomes severe in some homogeneous genetic backgrounds) due to trisomy of the 21A1-22E4 chromosome 2 fragment and by the lethality associated with monosomy of this 21A1-22E4 segment.

Animals↗
PubMed1992

Genetic segregation of random amplified polymorphic DNA in diploid cultivated alfalfa.

Polymerase chain reaction was used, with single 10-mer primers of arbitrary sequence, to amplify random regions of genomic DNA from a diploid cultivated alfalfa backcross population. Segregation of the random amplified polymorphic DNA (RAPD) fragments was analysed to determine if RAPD markers are suitable for use as genetic markers. Of the 19 primers tested, 13 amplified a total of 37 polymorphic fragments, of which 28 (76%) segregated as dominant Mendelian traits. RAPD markers appear useful for the rapid development of genetic information in species like alfalfa where little information currently exists or is difficult to obtain.

Base Sequence↗
PubMed1996

Segregation analysis of the testis-determining autosomal trait, Tda, that differs between the C57Bl/6J and DBA/2J mouse strains suggests a multigenic threshold model.

The testis-determining autosomal trait (Tda) of the mouse was uncovered when the Y chromosome of the poschiavinus variety of Mus musculus domesticus was introduced into the C57BL/6J laboratory strain background. Testis development is normal in the F1 generation but, in the backcross and subsequent crosses to C57BL/6J females, XY individuals with the poschiavinus Y chromosome expressed bilateral ovaries or various combinations of an ovotestis with a contralateral ovary or testis or bilateral ovotestes and few had testes bilaterally. In other strain backgrounds, such as DBA/2J, XY individuals with the poschiavinus Y chromosome always expressed normal testes bilaterally. The first breeding analysis of this difference in the interaction of strain background with the poschiavinus Y chromosome suggested that the Tda trait was due to a single gene, but attempts to map it failed. We constructed two strains of C57BL/6J and DBA/2J that are consomic for the poschiavinus Y chromosome in order to conduct a segregation analysis of the Tda trait. In the C57BL/6J.Y-POS consomic strain, liability to express incomplete testis development is normally distributed and thresholds in development specify the probability of different classes of ovary, ovotestis, and testis combinations. Testis development is complete in the DBA/2J.Y-POS consomic strain. We demonstrated previously that the Tda trait of C57BL/6J is recessive to that of DBA/2J and the segregating first backcross generation of embryos rejected the single-gene model. We have extended our analysis to a F2 generation of embryos that also rejects a single-gene model. We also report a test mating analysis of the first backcross generation. It was initiated to provide an independent assessment of the single-gene model, but the analysis of the distribution of test mating results suggests that the difference in the Tda trait between C57BL/6J and DBA/2J may be due to a small number of loci, possibly four or five, and that the phenotypic effect between loci may be additive.

Animals↗
PubMed1992

Segregation of altered parental properties in fusions between Saccharomyces cerevisiae and the D-xylose fermenting yeasts Candida shehatae and Pichia stipitis.

A prototrophic strain of Saccharomyces cerevisiae CSIR Y190 MATa xyl-, resistant to high levels of ethanol, was hybridized with xylose-fermenting, auxotrophic mutants of Candida shehatae and Pichia stipitis through polyethylene glycol-induced protoplast fusion in an attempt to produce ethanol-tolerant, xylose-fermenting hybrids. Mononucleate fusants were obtained, but these dissociated into a mixture of parental-type segregants. Purified Candida- and Pichia-resembling segregants failed to acquire improved ethanol tolerance but expressed other novel properties of S. cerevisiae, suggesting that karyogamy was impaired after internuclear gene transfer.

Candida↗
PubMed1998

MEIOTIC CHROMOSOME ORGANIZATION AND SEGREGATION IN PLANTS.

During meiosis, homologous chromosomes are brought together to be recombined and segregated into separate haploid gametes. This requires two cell divisions, an elaborate prophase with five substages, and specialized mechanisms that regulate the association of sister chromatids. This review focuses on plant chromosomes and chromosome-associated structures, such as recombination nodules and kinetochores, that ensure accurate meiotic chromosome segregation.

Journal Article↗
PubMed2004

Mechanisms of polarized growth and organelle segregation in yeast.

Cell polarity, as reflected by polarized growth and organelle segregation during cell division in yeast, appears to follow a simple hierarchy. On the basis of physical cues from previous cell cycles or stochastic processes, yeast cells select a site for bud emergence that also defines the axis of cell division. Once polarity is established, rho protein-based signal pathways set up a polarized cytoskeleton by activating localized formins to nucleate and assemble polarized actin cables. These serve as tracks for the transport of secretory vesicles, the segregation of the trans Golgi network, the vacuole, peroxisomes, endoplasmic reticulum, mRNAs for cell fate determination, and microtubules that orient the nucleus in preparation for mitosis, all by myosin-Vs encoded by the MYO2 and MYO4 genes. Most of the proteins participating in these processes in yeast are conserved throughout the kingdoms of life, so the emerging models are likely to be generally applicable. Indeed, several parallels to cellular organization in animals are evident.

Actins↗
PubMed2002

Meiotic recombination and chromosome segregation in Drosophila females.

In this review, we describe the pathway for generating meiotic crossovers in Drosophila melanogaster females and how these events ensure the segregation of homologous chromosomes. As appears to be common to meiosis in most organisms, recombination is initiated with a double-strand break (DSB). The interesting differences between organisms appear to be associated with what chromosomal events are required for DSBs to form. In Drosophila females, the synaptonemal complex is required for most DSB formation. The repair of these breaks requires several DSB repair genes, some of which are meiosis-specific, and defects at this stage can have effects downstream on oocyte development. This has been suggested to result from a checkpoint-like signaling between the oocyte nucleus and gene products regulating oogenesis. Crossovers result from genetically controlled modifications to the DSB repair pathway. Finally, segregation of chromosomes joined by a chiasma requires a bipolar spindle. At least two kinesin motor proteins are required for the assembly of this bipolar spindle, and while the meiotic spindle lacks traditional centrosomes, some centrosome components are found at the spindle poles.

Animals↗
PubMed2002

Functional segregation of ITD sensitivity in the inferior colliculus of decerebrate cats.

Decerebration allows single-unit responses in the central nucleus of the inferior colliculus (ICC) to be studied in the absence of anesthesia and descending efferent influences. When this procedure is applied to cats, three neural response types (V, I, and O) can be identified by distinct patterns of excitation and inhibition in pure-tone frequency-response maps. Similarities of the definitive response map features with those of projection neurons in the auditory brain stem have led to the proposal that the ICC response types are derived from different sources of ascending input that remain functionally segregated within the midbrain. Additional evidence for the existence of these hypothesized parallel processing pathways has been obtained in our previous investigations of the effects of interaural level differences, brain stem lesions, and pharmacological manipulations on physiologically classified units. This study extends our characterization of the functional segregation of single-unit activity in the ICC by investigating how sensitivity to interaural time differences (ITDs) is related to the response types that are observed in decerebrate cats. The results of these experiments support our parallel-processing model of the ICC by linking the ITD sensitivity of type V and I units to putative inputs from the medial superior olive and lateral superior olive and by showing that most type O units lack a systematic sensitivity to binaural temporal information presumably because their dominant ascending inputs arise from weakly binaural neurons in the dorsal cochlear nucleus.

Acoustic Stimulation↗
PubMed1988

Segregation of ON and OFF afferents to ferret visual cortex.

1. ON-center and OFF-center cells are found in separate sublaminae of the ferret's lateral geniculate nucleus (LGN). The purpose of these experiments was to determine whether this segregation is maintained in the projection from the LGN to primary visual cortex (area 17). 2. The distribution of the geniculocortical afferents within area 17 was studied by recording in layer IV after cortical neurons were silenced with kainic acid. 3. In 28 radial penetrations made into layer IV of five kainate-treated ferrets, the center types of 289 single units with response characteristics identical to those of geniculate cells were noted. A Monte Carlo analysis of these data demonstrated that the geniculocortical afferents cluster according to center type. 4. There was no tendency for ON and OFF afferents to occupy separate sublayers within layer IV. 5. The organization of the afferents in the plane of layer IV was studied by making closely spaced electrode penetrations across the dorsal exposed surface of the cortex in three kainate-treated ferrets. A Monte Carlo analysis of these results demonstrated that afferents segregate on the basis of center type, as well as on the basis of ocular dominance, into patches in the plane of layer IV. 6. The surface-mapping results and the results of experiments in which electrode penetrations were made tangential to layer IV indicated that center-type patches can extend over several hundred micrometers. A Monte Carlo analysis of the sizes of the ocular dominance patches and center-type patches provided further support for this conclusion.

Animals↗
PubMed1998

Segregation of receptive field properties in the lateral geniculate nucleus of a New-World monkey, the marmoset Callithrix jacchus.

The lateral geniculate nucleus (LGN) in humans and Old-World monkeys is dominated by the representation of the fovea in the parvocellular (PC) layers, and most PC cells in the foveal representation have red-green cone opponent receptive field properties. It is not known whether these features are both unique to trichromatic primates. Here we measured receptive field properties and the visuotopic organization of cells in the LGN of a New-World monkey, the marmoset Callithrix jacchus. The marmoset displays a polymorphism of cone opsins in the medium-long wavelength (ML) range, which allows the LGN of dichromatic ("red-green color blind") and trichromatic individuals to be compared. Furthermore, the koniocellular-interlaminar layers are segregated from the main PC layers in marmoset, allowing the functional role of this subdivision of the LGN to be assessed. We show that the representation of the visual field in the LGN is quantitatively similar in dichromatic and trichromatic marmosets and is similar to that reported for macaque; the vast majority of LGN volume is devoted to the central visual field. ON- and OFF-type responses are partially segregated in the PC layers so that responses are more commonly encountered near the external border of each layer. The red-green (ML) opponent cells in trichromatic animals were all located in the PC layers, and their receptive fields were within 16 degrees of the fovea. The koniocellular zone between the PC and magnocellular layers contained cells that receive excitatory input from short wavelength sensitive cones ("blue- cells") as well as other nonopponent cells. These results suggest that the basic organization of the LGN is common to dichromatic and trichromatic primates and provide further evidence that ML and SWS opponent signals are carried in distinct subdivisions of the retinogeniculocortical pathway.

Animals↗
PubMed2002

Risk assessment and segregation analysis in a pericentric inversion inv6p23q25 carrier using FISH on decondensed sperm nuclei.

Fluorescent in situ hybridization (FISH) in decondensed sperm nuclei has been used to determine the percentage of normal/balanced or unbalanced spermatozoa produced by an inv(6)(p23q25) carrier, and the possible interchromosomal effect (ICE) of the reorganized chromosomes on other chromosome pairs. A dual color FISH with specific subtelomeric probes for the 6p and 6q regions was performed to determine the segregation pattern of the inverted chromosome. ICE on chromosomes 18, X and Y was assessed using a triple color FISH assay. In the segregation analysis 10,049 spermatozoa were analyzed, and only 45.7% of them were normal/balanced. The high number of unbalanced gametes in our carrier could be the consequence of the large size of the inverted segment. This situation could facilitate the formation of an inversion loop, where formation of an odd number of chiasmata (usually one) result in the production of 50% normal and 50% unbalanced sperm. Furthermore, an increase in the disomy rate for chromosome 6 was also observed. In the screening for ICE, 10,007 spermatozoa were analyzed. The disomy rate for the sex chromosomes and chromosome 18 were not significantly different from those found in our controls, suggesting no evidence of interchromosomal effects in this patient. The use of FISH in decondensed sperm nuclei has proved once more to be an accurate approach to determine the chromosome anomalies in sperm and could help to better establish a reproductive prognosis.

Adult↗
PubMed2004

An integrative genomics approach to the reconstruction of gene networks in segregating populations.

The reconstruction of genetic networks in mammalian systems is one of the primary goals in biological research, especially as such reconstructions relate to elucidating not only common, polygenic human diseases, but living systems more generally. Here we propose a novel gene network reconstruction algorithm, derived from classic Bayesian network methods, that utilizes naturally occurring genetic variations as a source of perturbations to elucidate the network. This algorithm incorporates relative transcript abundance and genotypic data from segregating populations by employing a generalized scoring function of maximum likelihood commonly used in Bayesian network reconstruction problems. The utility of this novel algorithm is demonstrated via application to liver gene expression data from a segregating mouse population. We demonstrate that the network derived from these data using our novel network reconstruction algorithm is able to capture causal associations between genes that result in increased predictive power, compared to more classically reconstructed networks derived from the same data.

11-beta-Hydroxysteroid Dehydrogenases↗
PubMed2005

Inheritance of total serum IgE in the isolated Tangier Island population from Virginia: complexities associated with genealogical depth of pedigrees in segregation analyses.

OBJECTIVES: This study was aimed at performing a segregation analysis of total serum immunoglobulin E (tIgE) in an isolated population using maximal genealogical information permitted by current software and computer capacities, while assessing the reliability of the best-fitting model of inheritance for tIgE through simulations. METHODS: All current Tangier Island, VA, residents (n = 664) belonged to one large extended pedigree (n = 3,501) spanning 13 generations, with an average inbreeding coefficient of 0.009. Phenotype data were obtained on 453 (68.2%) of the residents using a population-based recruitment scheme. Due to computational limitations resulting from the extremely complex pedigree structure, analysis on only two pedigree reconstructions was feasible: a reduced pedigree retaining all phenotyped individuals and their parents as 57 distinct families, and 922 nuclear families. RESULTS: Familial correlations and heritability calculations reveal a significant genetic component to tIgE in these data (heritability = 26%). The most parsimonious model to explain tIgE distribution indicated by the reduced pedigree structure was a two-distribution Mendelian model. However, larger and non-genetic models could not be rejected. Simulations over 200 replicates performed to evaluate the reliability of this model, indicated that using restricted genealogical information had minimal impact on results of segregation analyses performed here.

Adolescent↗
PubMed1988

Segregation and transmission of chromosomes from a reciprocal translocation in Gallus domesticus cockerels.

Segregation behavior of a reciprocal translocation involving the long arm of chromosome No. 1 and a microchromosome was studied in secondary spermatocytes and embryos produced by heterozygous cockerels. The types and frequencies of the various balanced and unbalanced chromosome complements were determined. Complementary products of segregation did not occur in the expected ratios of 1:1 in secondary spermatocytes. The excess of spermatocytes with deficiency of the long arm and duplication of the short arm might be the result of lagging of the long arm at meiosis I, the centromere of the long arm being derived from a microchromosome. In the samples of secondary spermatocytes and embryos 52.5% and 49.6%, respectively, contained balanced chromosome complements. A significantly higher proportion of duplications and deletions of the long arm was seen in embryos than in secondary spermatocytes. Conversely, a lower proportion of duplications and deletions of the short arm was seen in embryos than in secondary spermatocytes. Apparently, spermatogenic cells bearing different unbalanced genomic contents are not equally viable or fertile.

Animals↗
PubMed1993

Analysis of chiasma frequency and first meiotic segregation in a human male reciprocal translocation heterozygote, t(1;11)(p36.3;q13.1), using fluorescence in situ hybridisation.

In this study we have used a testicular biopsy from a human male with a 46,XY,t(1;11)(p36.3;q13.1) karyotype. Fluorescence in situ hybridisation with whole chromosome libraries and paracentromeric probes were applied to identify normal and derived chromosomes 1 and 11 in both first metaphase (MI) and second metaphase (MII) cells. The chiasma frequency distribution was established in the quadrivalent. A large proportion of MI cells was found to have at least one interstitial chiasma, resulting at MII in dimorphic chromosomes bearing one normal and one translocated chromatid. Alternate, adjacent I, adjacent II, and 3:1 products were all identified at MII. More than half of the cells analysed could not be assigned to a single segregation category because of the presence of interstitial chiasmata. Such MII cells could have arisen from either alternate or adjacent I segregation. We also calculated the proportion of sperm expected to be normal, balanced, and unbalanced. The latter data are in agreement with the results reported by Spriggs et al. (1992), who karyotyped sperm from the same individual.

Adult↗
PubMed1979

Segregation and linkage analyses of dopamine-beta-hydroxylase activity.

Dopamine-beta-hydroxylase (DBH) activity in serum was measured by spectrophotometric methods in 95 persons of a large family (HGAR 2), along with 27 polymorphic markers from blood, urine and saliva. The distribution of DBH activity, after appropriate transformation and age adjustment, showed a significantly better fit to a mixture of two normal distributions than a single normal distribution. Pedigree segregation analyses showed evidence of a possible major gene governing low levels of DBH activity, segregating in this family in a recessive fashion. Linkage analyses between that major locus and the 27 polymorphic markers showed no significant lod scores favoring linkage. The highest lod score obtained was 0.81 with Lp at zero recombination fraction. In addition, published data on DBH activity measured by radiochemical assays on 22 families with 161 members were reanalyzed as a quantitative trait, with appropriate correction for ascertainment bias. The results were similar to that of HGAR 2, corroborating the existence of a major locus for DBH activity.

Adult↗