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Sister chromatid segregation in anaphase of mitosis is initiated through cleavage of cohesin by the protease separase. Two studies now show that this view is valid for most chromosomal DNA, but not for the highly repetitive ribosomal DNA (rDNA) and telomeres. The disjunction of these regions of the chromosome occurs in mid-anaphase, long after cohesin cleavage, and is regulated by the conserved phosphatase Cdc14.
In mammals, loss of APC/Apc gatekeeper function initiates intestinal tumorigenesis. Several different mechanisms have been shown or proposed to mediate functional loss of APC/Apc: mutation in APC/Apc, non-disjunction, homologous somatic recombination and epigenetic silencing. The demonstration that, in the C57BL/6 (B6) Apc(Min/+) mouse model of inherited intestinal cancer, loss of Apc function can occur by loss of heterozygosity (LOH) through somatic recombination between homologs presents an opportunity to search for polymorphisms in the homologous somatic recombination pathway. We report that the Robertsonian translocation Rb(7.18)9Lub (Rb9) suppresses the multiplicity of intestinal adenomas in this mouse model. As the copy number of Rb9 increases, the association with the interphase nucleolus of the rDNA repeats centromeric to the Apc locus on Chromosome 18 is increasingly disrupted. Our analysis shows that homologous somatic recombination is the principal pathway for LOH in adenomas in B6 Apc(Min/+) mice. These studies provide additional evidence that neoplastic growth can initiate in the complete absence of canonical genomic instability.
We present a family with a Robertsonian translocation (RT) 15;21 and an inv(21)(q21.1q22.1) which was ascertained after the birth of a child with Down syndrome. Karyotyping revealed a translocation trisomy 21 in the patient. The mother was a carrier of a paternally inherited RT 15;21. Additionally, she and her mother showed a rare paracentric inversion of chromosome 21 which could not be observed in the Down syndrome patient. Thus, we concluded that the two free chromosomes 21 in the patient were of paternal origin. Remarkably, short tandem repeat (STR) typing revealed that the proband showed one paternal allele but two maternal alleles, indicating a maternal origin of the supernumerary chromosome 21. Due to the fact that chromosome analysis showed structurally normal chromosomes 21, a re-inversion of the free maternally inherited chromosome 21 must have occurred. Re-inversion and meiotic segregation error may have been co-incidental but unrelated events. Alternatively, the inversion or RT could have predisposed to maternal non-disjunction.
Castanea is one of the many plant genera with a disjunct distribution pattern between eastern Asia and eastern North America. Five species from three sections of the genus were investigated to examine genetic divergence between eastern Asian and eastern North American species. A total of 62 native populations were sampled for allelic variation at isozyme loci. The Chinese chestnut C. mollissima had the highest genetic variability, while the American C. dentata had the lowest genetic variability. The highest intracontinental genetic identities were observed between the Allegheny and Ozark chinkapins (0.931) and between C. mollissima and C. seguinii (0.870), while lower identities were detected between the American C. pumila and C. dentata (0.720-0.729). In intercontinental comparisons, genetic identities of 0.505, 0.495 and 0.507 were observed between the American chestnut and the Chinese C. mollissima, C. seguinii and C. henryi, respectively, whereas the Ozark chinkapin C. pumila var. ozarkensis had lower identities of 0.469, and 0.435 with C. mollissima and C. seguinii, respectively, but a slightly higher identity of 0.520 with C. henryi, the Chinese chinkapin. Divergence times were estimated at 10-13 million years before present between C. dentata and C. mollissima, and C. pumila var. ozarkensis and C. henryi.
Recently established, temperate tree populations combine a high level of differentiation for adaptive traits, suggesting rapid genetic evolution, with a high level of genetic diversity within population, suggesting a limited impact of genetic drift and purifying selection. To study experimentally the evolutionary forces in a recently established population, we assessed the spatial and temporal patterns of genetic diversity within a disjunct population of Cedrus atlantica established 140 years ago in south-eastern France from a North African source. The population is expanding through natural regeneration. Three generations were sampled, including founder trees. We analysed 12 isozyme loci, three of which were previously found in tight association with selected genes, and quantitative traits. No bottleneck effect was detected in the founder generation, but a simple test of allelic association revealed an initial disequilibrium which disappeared in the following generations. The impact of genetic drift during secondary evolution was limited, as suggested by the weak temporal differentiation. The genetic load was not reduced after 3 generations, and the quantitative variation for adaptive traits did not change either. Thus, initial genetic changes first proceed from a rapid re-organisation of the diversity through mating and recombination, whereas genetic erosion through drift and selection is delayed due to temporal and spatial stochasticity. Two life-history traits of trees contribute to slowing down the processes of genetic erosion: perenniality and large spatial scale. Thus, one would expect recently established tree populations to have a higher diversity than older ones, which seems in accordance with experimental surveys.
The evolution of the chromosomal location of ribosomal RNA gene clusters and the organization of heterochromatin in the Drosophila melanogaster group were investigated using fluorescence in situ hybridization and DAPI staining to mitotic chromosomes. The investigation of 18 species (11 of which were being examined for the first time) belonging to the melanogaster and ananassae subgroups suggests that the ancestral configuration consists of one nucleolus organizer (NOR) on each sex chromosome. This pattern, which is conserved throughout the melanogaster subgroup, except in D. simulans and D. sechellia, was observed only in the ercepeae complex within the ananassae subgroup. Both sex-linked NORs must have been lost in the lineage leading to D. varians and in the ananassae and bipectinata complexes, whereas new sites, characterized by intra-species variation in hybridization signal size, appeared on the fourth chromosome related to heterochromatic rearrangements. Nucleolar material is thought to be required for sex chromosome pairing and disjunction in a variety of organisms including Drosophila. Thus, either remnant sequences, possibly intergenic spacer repeats, are still present in the sex chromosomes which have lost their NORs (as observed in D. simulans and D. sechellia), or an alternative mechanism has evolved.
Colonization and isolation are critical events in the evolutionary dynamics of plant populations. In this paper I review how spatial population structure of genetic markers provides insights into the evolutionary significance of episodes of colonization and isolation in the Mediterranean flora. I use as themes to structure my review the following topics: spatial structure induced by historical associations among populations of widespread species; population differentiation in relation to the evolution of closely related species with disjunct distributions; the potential effect of founder events during colonization on character evolution; and the conservation implications of spatial population structure. My review illustrates that the Mediterranean flora is full of examples that provide key insights into such evolutionary and conservation issues.
The banded garden spider (Argiope trifasciata) is a common orb weaver of old field habitats in the United States. In this study, we determined levels of genetic variability and gene flow among seven populations in central Pennsylvania, based on variation at eight allozyme loci. Mean heterozygosity (observed) per population was 7. 5% and mean polymorphism was 39.3%, consistent with levels of variability in other arthropods. Values of GST for the four polymorphic loci (mean GST=0.011) suggest that gene flow prevents the genetic differentiation of these populations. The average number of migrants per generation (Nm) among these populations is estimated to be 31.3. The lack of significant interpopulation genetic differentiation among these disjunct populations may result from spiderling aerial dispersal (ballooning), a more continuous distribution of suitable habitat in the past, and perhaps the use of roadside vegetation as gene flow corridors. On the other hand, the study populations did not exhibit isolation-by-distance, suggesting that suitable habitat in our study area is experienced as less than continuous by A. trifasciata. Thus, although A. trifasciata is an excellent ballooner, ballooning does not confer unlimited access among all populations, which suggests that ballooning may be a far less effective means of long-distance dispersal than previously thought.
Population genetic structure and the mating system were investigated in the endangered plant Lambertia orbifolia. This species is geographically restricted with two disjunct groups of populations. Twelve out of 19 allozyme loci were polymorphic and four were suitable for mating system studies. Levels of genetic variation within populations were comparable to other long-lived woody shrub endemics. Genetic divergence between population groups was very high (D = 0.252) and the FST over all populations was 0.441. Gene flow estimates within population groups were low even though the maximum geographical distance between any pair of populations is 15 km and could be attributed to the localized movement of bird pollinators. Mating system studies on four populations showed consistently low levels of outcrossing, compared with other Proteaceae. Correlations of outcrossed paternity were moderately high and all were significantly greater than zero. Values ranged from rp = 0.33, in the two largest and very dense populations, to the highest value of rp = 0.54 in a smaller low-density population. The current population genetic structure in L. orbifolia is probably the result of local extinction of intervening populations because of Pleistocene climatic change and increased aridity, and extended isolation of the two remnants. It is proposed that the phylogenetically distinct Narrikup population group be recognized as a separate conservation unit and be given high priority for conservation action.
Germline mutations in succinate dehydrogenase subunits B, C and D (SDHB, SDHC and SDHD), genes encoding subunits of mitochondrial complex II, cause hereditary paragangliomas and phaeochromocytomas. In SDHB (1p36)- and SDHC (1q21)-linked families, disease inheritance is autosomal dominant. In SDHD (11q23)-linked families, the disease phenotype is expressed only upon paternal transmission of the mutation, consistent with maternal imprinting. However, SDHD shows biallelic expression in brain, kidney and lymphoid tissues (Baysal et al., 2000). Moreover, consistent loss of the wild-type (wt) maternal allele in SDHD-linked tumours suggests expression of the maternal SDHD allele in normal paraganglia. Here we demonstrate exclusive loss of the entire maternal chromosome 11 in SDHD-linked paragangliomas and phaeochromocytomas, suggesting that combined loss of the wt SDHD allele and maternal 11p region is essential for tumorigenesis. We hypothesize that this is driven by selective loss of one or more imprinted genes in the 11p15 region. In paternally, but not in maternally derived SDHD mutation carriers, this can be achieved by a single event, that is, non-disjunctional loss of the maternal chromosome 11. Thus, the exclusive paternal transmission of the disease can be explained by a somatic genetic mechanism targeting both the SDHD gene on 11q23 and a paternally imprinted gene on 11p15.5, rather than imprinting of SDHD.
The paper gives an overview, generalization and systematization of the different energy decomposition schemes we have devised in the last few years by using both the 3-D analysis (the atoms are represented by different parts of the physical space) and the Hilbert space analysis in terms of the basis orbitals assigned to the individual atoms. The so called "atomic decomposition of identity" provides us the most general formalism for analyzing different physical quantities in terms of individual atoms or pairs of atoms. (The "atomic decomposition of identity" means that we present the identity operator as a sum of operators assigned to the individual atoms.) By proper definitions of the atomic operators, both Hilbert-space and the different 3-D decomposition schemes can be treated on an equal footing. Several different but closely related energy decomposition schemes have been proposed for the Hilbert space analysis. They differ by exact or approximate treatment of the three- and four-center integrals and by considering the kinetic energy as a part of the atomic Hamiltonian or as having genuine two-center components, too. (Also, some finite basis correction terms may be treated in different manners.) The exact schemes are obtained by using the "atomic decomposition of identity". In the approximate schemes a projective integral approximation is also introduced, thus the energy components contain only one- and two-center integrals. The diatomic energy contributions have also been decomposed into terms of different physical nature (electrostatic, exchange etc.) The 3-D analysis may be performed either in terms of disjunct atomic domains, as in the case of the AIM formalism, or by using the so called "fuzzy atoms" which do not have sharp boundaries but exhibit a continuous transition from one to another. The different schemes give different numbers, but each is capable of reflecting the most important intramolecular interactions as well as the secondary ones--e.g. intramolecular interactions of type C-H[...]O.
Each summer Adélie penguins breed in large disjunct colonies on ice-free areas around the Antarctic continent. Comprising > 10 million birds, this species represents a dominant feature of the Antarctic ecosystem. The patchy distribution within a large geographical range, natal philopatry and a probable history of refugia, suggest that this species is likely to exhibit significant genetic differentiation within and among colonies. We present data from seven microsatellite DNA loci for 442 individuals from 13 locations around the Antarctic continent. With the exception of one locus, there was no significant genic or genotypic heterogeneity across populations. Pairwise FST values were low with no value > 0.02. When all colonies were compared in a single analysis, the overall FST value was 0.0007. Moreover, assignment tests were relatively ineffective at correctly placing individuals into their respective collection sites. These data reveal a lack of genetic differentiation between Adélie penguin colonies around the Antarctic continent, despite substantial levels of genetic variation. We consider this homogeneity in terms of the dispersal of individuals among colonies and the size of breeding groups and discuss our results in terms of the glacial history of Antarctica.
AIMS: To study international and within country differences with regard to views by the general public on alcohol policy topics, describe associations with socio-demographic characteristics and drinking practices, and contrast opinions with variations in actual policies. DESIGN, SETTING, SUBJECTS: Large-scale cross-sectional household surveys were conducted in Canada (n = 11,550) and the United States (n = 4004) in 1989-90, involving representative samples of adults aged 18 and older. MEASURES: Eleven alcohol policy topics were examined: alcohol taxes; hours of off-premise sale; legal drinking age; alcohol sales in corner stores; government advertising against alcohol; warning labels on alcohol products; alcohol advertising on TV; industry sponsorship or cultural or sports events; efforts to prevent service to drunken customers; prevention and education; and treatment. FINDINGS: Even after controlling for drinking levels and respondent characteristics, policy measures that control physical or economic access to alcohol are not as strongly supported as those that provide information or focus on the heavy drinker. There was greater polarization of opinion within both countries for policy items relating to promotion of alcohol or control of physical, demographic or economic access, and virtually no polarization with regard to items such as curtailing service to drunken customers or providing information or treatment. In the jurisdiction with less restrictive measures on a particular policy, there seems to be greater public support for curtailing access to alcohol and, in some instances, more restrictive policies are associated with lower support for increasing restrictions. CONCLUSION: Public opinion data are an important resource in determining whether actual policies are compatible with the views of those affected by them. Disjunctions between research on the most effective policy interventions and views by the public point to special agenda for information dissemination and prevention initiatives.
Refugial differentiation and routes of postglacial migration are major determinants of the patterns of geographical variation we see in natural populations today. We used patterns of chloroplast DNA (cpDNA) variation to investigate the postglacial colonization history of the European oak species Quercus robur and Q. petraea. By sequencing two cpDNA segments using universal primers, we revealed four polymorphic sites which identify four cytotypes with characteristic geographical distributions. Of these, the principal eastern, central and western cytotypes divide the range into three longitudinal zones, each extending from the south to the north of Europe. This corroborates the idea that the postglacial colonization started from three distinct southerly refugia. The fourth cytotype, restricted to East Anglia, was probably derived from the western type postglacially. As a special problem, we addressed the controversial origin of Q. robur at its northern limits in south-western Finland, where it currently occupies a narrow coastal zone disjunct from the remaining oak range. Using a PCR-RFLP assay that discriminates the eastern cytotype, a contact zone of two cytotypes was identified in the region of the Salpausselkä ridges. This suggests that the marginal northern occurrence was independently colonized both from the east and from the west, across the Baltic Sea.
Allozyme analyses of the hermaphroditic slugs Arion (Carinarion) fasciatus, A. (C.) circumscriptus and A. (C.) silvaticus have suggested that the three species in North America and north-west Europe predominantly reproduce uniparentally, most probably by selfing. We used allozyme electrophoresis to investigate the population genetic structure of these species throughout a larger part of their native European distribution. Our results show that the previously reported "species" specific allozyme markers are no longer valid if populations from central Europe are investigated, and A. fasciatus and A. silvaticus appear to be "paraphyletic" taxa. In contrast to the general belief that selfing organisms show low gene diversities, the high selfing rates in N-NE European Carinarion do not necessarily result in low gene diversities. Moreover, our data suggest a geographical pattern in the prevalence of outcrossing, at least in A. fasciatus, with selfing in N-NE Europe and a mixed breeding system (i.e. selfing and outcrossing) in central Europe. Possible scenarios for the disjunct distribution of breeding systems in Carinarion are discussed.
Genetic variability and population structure of Baltic ringed seals and an Arctic reference population were assessed using eight microsatellite loci. Ringed seals colonized the Baltic Sea basin soon after deglaciation 11 500 years ago and are supposed to have remained largely isolated from the main Arctic stock since then, approximately 1000 generations. In the 1900s the Baltic population declined rapidly, and is now confined to three distinct breeding areas, with N < 6000 seals altogether. Microsatellite heterozygosity in ringed seals was higher than that in the closely related, boreal harbour seal and grey seal, for which the markers were initially developed. This is plausibly attributed to an overall greater population (species) size of ringed seals during the Quaternary. Allele frequency differentiation between the Baltic and Arctic ringed seals, conventionally treated as different subspecies, was weak. Assuming complete isolation, the divergence (FST=0.023) would imply a notably high postglacial effective population size, approximately 20 000 for the Baltic population. The isolation assumption however, seems unrealistic in the light of the data: a coalescent-based simulation approach to the likelihood of alternative demographic histories clearly favoured a scenario with recurrent gene flow to the Baltic, over one of complete isolation (drift only). Within the Baltic Sea, no differentiation was found between the Gulf of Finland and the Gulf of Bothnia breeding areas; the recent population decline and split have not yet affected the inbreeding levels of the disjunct breeding stocks.
Comparative population genetic and phylogenetic analyses were used to study historical and recent gene flow between two colour variants of the spider Eresus cinnaberinus, in order to explain variant distributions in Northern and Central Europe. Recently, the colour variants have been assigned to two species, E. cinnaberinus and E. sandaliatus, the latter found isolated in Denmark and in Bavaria. Explaining Eresus's distributions thus poses a twofold problem: (i) clarifying species limits at a population-species transition and (ii) explaining noncontinuous distributions in a postglacially colonized area. Combined allozyme and mtDNA data suggest that disjunct distributions of E. sandaliatus in Bavaria and Denmark were caused by introgression of E. cinnaberinus into a E. sandaliatus background, giving rise to E. cinnaberinus phenotypes, rather than competitive exclusion of a genetically independent species by the other. Introgression caused mtDNA paraphyly of the derived E. sandaliatus whereas paraphyly of E. cinnaberinus outside the putative introgression zone may be associated with lineage sorting. Allozymes reveal local and extant gene flow processes better than mtDNA, but, because of the divided population structure, allozymes have limited power in making inferences about historical gene flow and the speed of postglacial colonization. Mitochondrial DNA distributions indicate that postglacial colonization of Northern Europe occurred rapidly and in several waves from different source populations.
The importance of health policy in terms of its effects on nursing is now recognized as an issue of concern for nurses; however, the essentially dynamic character of policy requires that consideration of its nature and consequences is continuous. This paper addresses the parallel development of the New Public Management (NPM) and the New Nursing as a means of demonstrating the perceived disjunction between events in nursing and the wider policy arena. The nature of policy is discussed and the relationship between the NPM and the New Nursing is explored. An examination of the unintended consequences of policy implementation and the role of rhetoric in the development of the NPM and the New Nursing demonstrates that these contrasting ideologies have emerged from a similar set of circumstances and have developed along a broadly similar timescale. The final effects of this process, however, are not yet clear. It is suggested that although the processes of policy formation and implementation are inherently complex there is an opportunity for nurses to exert some influence over them. Finally it is argued that if nurses become skilled in the art of rhetoric and combine this with a thorough understanding of the policy process they may be able to shape policy directly when and where it is implemented.