| 1. |
- Arnason, Ulfur
(författare)
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50 years after - examination of some circumstances around the establishment of the correct chromosome number of man
- 2006
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 1601-5223 .- 0018-0661. ; 143:1, s. 202-211
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Tidskriftsartikel (refereegranskat)abstract
- Three authors, Levan (1975, 1978), Tjio (1978) and Hulten (2002)have independently described the establishment of the correct chromosome number of man Tjio and Levan 1956 and the background to that study. However, the three authors provide strikingly different accounts of this historical discovery. In this study I have examined the consistency between these accounts and details provided by the logbook kept at Cancer Chromosome Laboratory, University of Lund. For complementary details I have also consulted several persons that were active at the Institute of Genetics, Univ. of Lund, at the time of the discovery. Levan's (1975)Levan's (1978)accounts are both written in a modest way compared to the more self-centered narratives of Tjio and Hulten. His accounts are also consistent with all details that can be collected from the logbook. However, and most unfortunately, Levan is not explicit with respect to the dates of what might be different cytogenetic observations related to the determination of the correct chromosome number of man. The logbook leaves no room for various temporal details given by Tjio, which, if correct, might substantiate his account. Also Tjio's introduction of an alter ego into the narrative is apt to lessen the general credibility of his account. Tjio's (1978)contention of having made his human chromosome preparations at 2 a.m. on December 22nd or 23rd would be consistent with his claim that he arrived from Spain in early December 1955. His account of this crucial issue is incorrect, however, as he did not arrive at the Cancer Chromosome Laboratory until December 19. Hulten's claim of involvement becomes highly questionable in the light of her fading recollections of both the localities at the Institute of Genetics and the persons working there. Her temporal account, like that of Tjio, remains unsupported by the logbook. Examination of the logbook for temporal details relating to the establishment of the correct chromosome number of man suggests that Levan made his first preliminary 2n=46 human chromosome counts around December 20th - 23rd, 1955, and that Tjio made his first conclusive preparations two-three weeks after his arrival from Spain, that is in early January 1956.
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| 2. |
- Einarsdottir, Elisabet, et al.
(författare)
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The genetic population structure of northern Sweden and its implications for mapping genetic diseases.
- 2007
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 1601-5223 .- 0018-0661. ; 144:5, s. 171-180
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Tidskriftsartikel (refereegranskat)abstract
- The northern Swedish population has a history of admixture of three ethnic groups and a dramatic population growth from a relatively small founder population. This has resulted in founder effects that together with unique resources for genealogical analyses provide excellent conditions for genetic mapping of monogenic diseases. Several recent examples of successful mapping of genetic factors underlying susceptibility to complex diseases have suggested that the population of northern Sweden may also be an important tool for efficient mapping of more complex phenotypes. A potential factor contributing to these effects may be population sub-isolates within the large river valleys, constituting a central geographic characteristic of this region. We here provide evidence that marriage patterns as well as the distribution of gene frequencies in a set of marker loci are compatible with this notion. The possible implications of this population structure on linkage- and association based strategies for identifying genes contributing risk to complex diseases are discussed.
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| 3. |
- Johansson, Åsa, et al.
(författare)
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Identification of local selective sweeps in human populations since the exodus from Africa
- 2008
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661 .- 1601-5223. ; 145:3, s. 126-137
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Tidskriftsartikel (refereegranskat)abstract
- Selection on the human genome has been studied using comparative genomics and SNP architecture in the lineage leading to modern humans. In connection with the African exodus and colonization of other continents, human populations have adapted to a range of different environmental conditions. Using a new method that jointly analyses haplotype block length and allele frequency variation (F-ST) within and between populations, we have identified chromosomal regions that are candidates for having been affected by local selection. Based on 1.6 million SNPs typed in 71 individuals of African American, European American and Han Chinese descent, we have identified a number of genes and non- coding regions that are candidates for having been subjected to local positive selection during the last 100 000 years. Among these genes are those involved in skin pigmentation (SLC24A5) and diet adaptation (LCT). The list of genes implicated in these local selective sweeps overlap partly with those implicated in other studies of human populations using other methods, but show little overlap with those postulated to have been under selection in the 5 - 7 myr since the divergence of the ancestors of human and chimpanzee. Our analysis provides focal points in the genome for detailed studies of evolutionary events that have shaped human populations as they explored different regions of the world.
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| 4. |
- Jonsson, Magnus, et al.
(författare)
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Genetic divergence of climatically marginal populations of Vicia pisiformis on the Scandinavian Peninsula
- 2008
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661 .- 1601-5223. ; 145:1, s. 1-8
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Tidskriftsartikel (refereegranskat)abstract
- Vicia pisiformis L. is a perennial leguminous plant with a main distribution in broadleaved forest-steppes of eastern Europe. The species is classified as endangered (EN) according to the IUCN red-lists in both Norway and Sweden, due to severe fragmentation, small population sizes and continuing population decline. The populations on the Scandinavian Peninsula constitute the northern limit of the species distribution and are mostly restricted to warm stony slopes with predominantly southern aspects. In this study we used the AFLP method, which is a high-resolution genetic fingerprint method. Samples were collected from 22 Scandinavian populations. The overall genetic structure was analysed in an AMOVA, in a Mantel test and through constrained correspondence analysis (CCA). The ordination scores representing non-geographic genetic divergence were extracted from the CCA and analysed in a linear model using habitat variables and population size as explanatory variables. We found (i) a strong geographic structure, (ii) significant genetic divergence between populations, (iii) that this genetic divergence remained significant even after removing the effect of geography in a partial CCA and (iv) that the remaining non-geographic part of genetic divergence (distance from the ordination centre) was associated with aspect, populations with a northern aspect were more genetically divergent. Aspect explains more variation than population size and is the only variable retained in the minimal adequate model. We suggest that local adaptation has caused this divergence from an expected geographical pattern of genetic variation. This explanation is further supported by the association between aspect and specific AFLP fragments. Many plant populations are relics of a different climate (Aguirre-Planter et al. 2000; Despres et al. 2002; Pico and Riba 2002). In response to long-term climate change, populations can either migrate towards a more favourable climate or adapt to the new conditions (delaVega 1996; Jump et al. 2006). Species with limited dispersal ability are at risk of reaching isolated dead-ends of decreasingly suitable habitat, without any suitable habitat within dispersal distance (Colas et al. 1997). Isolated populations have to use their inherent evolutionary potential and adapt to changes in environmental conditions, or they will go extinct. As population fragments go extinct, those that remain will become increasingly isolated from each other both spatially and also genetically as the level of gene flow declines with increasing distance. Such correlation between genetic dissimilarities and geographic distances, known as isolation by distance (Slatkin 1993; Wright 1943), when found, suggests a history of geographically limited gene flow (Kimura and Weiss 1964). On top of an isolation by distance pattern there might be other genetic structures to be found. Occasional long-distance dispersal events for example may disturb geographic patterns with puzzling allele distributions as a result (Nichols and Hewitt 1994). Genetic drift is a process that will affect any pattern of genetic variation in a random fashion. Local adaptation through natural selection is a process that, if sufficiently strong in comparison with gene flow and genetic drift, will create patterns where genetic differentiation is associated with certain environmental conditions (Wright 1951). Several studies have shown the importance of local adaptation of populations (reviewed by Kawecki and Ebert 2004) (see also Bonin et al. 2006; Knight and Miller 2004; Kolseth and Lönn 2005; Lönn et al. 1998). Local adaptation can be strong also at small spatial scales (Snaydon and Davies 1976; Lönn 1993) even though it is sometimes very limited in terms of the number of genes involved (Kärkkainen et al. 2004) Environmental variability provides a base for biological variation by imposing differentiated selection pressures resulting in local adaptation. Topography provides large environmental variation within a relatively small area and thereby provides a basis for small-scale local adaptations. Depending on the local topographic possibilities populations can either migrate up and down slopes or along the same altitude to a different aspect to find a suitable microclimate. The dispersal distance will be much shorter per degree of temperature change during altitudinal migration (Hewitt 1996), than during simple latitudinal migration across a flat landscape. Slope and aspect are two important topographic parameters that determine the influx level of solar radiation, especially towards the poles where the total global radiation decreases (Larcher 2003). Vicia pisiformis is an endangered poorly-dispersed long-lived forest herb with its main distribution across the semi-open broadleaved forest steppes of eastern Europe. The Scandinavian populations are believed to be climate relict populations from warmer times. Earlier genetic studies of V. pisiformis using allozymes, RAPD:s and morhology, have found low to very low levels of genetic variation (Gustafsson and Gustafsson 1994; Black-Samuelsson et al. 1997; Black-Samuelsson and Lascoux 1999). Therefore we used AFLP (amplified fragment length polymorphism) markers, which detect even very small genetic differences between individuals. AFLP mainly analyse neutral variation, as the major fraction of most genomes is assumed to be neutral. However, since the AFLP-fragments are distributed randomly throughout the whole genome some fragments may be situated so close to regions under selection that they become more or less linked to them. This linkage disequilibrium between molecular markers and regions under selection, often referred to as quantitative trait loci (QTL), forms the basis for both QTL-mapping and marker assisted selection (MAS), reviewed by Dekkers and Hospital (2002). Gardner and Latta (2006) for example, found QTL under selection in both natural environments and in the greenhouse. Markers have been found to be connected to biomass production (Cavagnaro et al. 2006) and environmental variation (Bonin et al. 2006; Jump et al. 2006; Porcher et al. 2006). In this study we examine 22 Swedish and Norwegian populations of Vicia pisiformis and ask (i) if there is genetic differentiation between these populations, (ii) if there is can it be explained in its entirety by geographic location or (iii) can it partly be explained by habitat characteristics, suggesting local adaptation, or population size, suggesting genetic drift. We show that populations are differentiated geographically and that genetic variation in addition to the geographical pattern is associated with habitat.
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| 5. |
- Lundmark, Magnus, et al.
(författare)
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Asexuality alone does not explain the success of clonal forms in insects with geographical parthenogenesis
- 2006
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Ingår i: Hereditas. - Oxford : Blackwell. - 0018-0661 .- 1601-5223. ; 143:2006, s. 23-32
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Tidskriftsartikel (refereegranskat)abstract
- Asexual forms of invertebrates are relatively common. They are often more successful than their sexual progenitors. Especially in insects, the pattern called geographical parthenogenesis shows that asexuality is important in speciation and ecological adaptation. In geographical parthenogenesis the clones have a wider distribution than the sexual forms they originate from. This indicates that they have a broader niche they may utilize successfully. The cause of this apparent success is, however, hard to come by as the term asexuality covers separate phenomena that are hard to disentangle from the mode of reproduction itself. Asexual insects are often polyploid, of hybrid origin, or both and these phenomena have been argued to explain the distribution patterns better than clonality. In this study we survey the literature on arthropods with geographical parthenogenesis in an attempt to clarify what evidence there is for the different phenomena explaining the success of the clonal forms. We focus on the few species where knowledge of distribution of different ploidy levels allows for a distinction of contributions from different phenomena to be made. Our survey support that asexuality is not the only factor underlying the success of all asexuals. Evidence about the importance of a hybrid origin of the clones is found to be meagre as the origin of clones is unknown in the majority of cases. Asexuality, hybridity and polyploidy are intertwined phenomena that each and all may contribute to the success of clonal taxa. Polyploidy, however, emerges as the most parsimonious factor explaining the success of these asexual invertebrate taxa.
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| 6. |
- Rasmuson, Marianne
(författare)
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Genealogy and gene trees
- 2008
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Ingår i: Hereditas. - Oxford : Blackwell Publishing. - 0018-0661 .- 1601-5223. ; 145:1, s. 20-27
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Tidskriftsartikel (refereegranskat)abstract
- Heredity can be followed in persons or in genes. Persons can be identified only a few generations back, but simplified models indicate that universal ancestors to all now living persons have occurred in the past. Genetic variability can be characterized as variants of DNA sequences. Data are available only from living persons, but from the pattern of variation gene trees can be inferred by means of coalescence models. The merging of lines backwards in time leads to a MRCA (most recent common ancestor). The time and place of living for this inferred person can give insights in human evolutionary history. Demographic processes are incorporated in the model, but since culture and customs are known to influence demography the models used ought to be tested against available genealogy. The Icelandic data base offers a possibility to do so and points to some discrepancies. Mitochondrial DNA and Y chromosome patterns give a rather consistent view of human evolutionary history during the latest 100 000 years but the earlier epochs of human evolution demand gene trees with longer branches. The results of such studies reveal as yet unsolved problems about the sources of our genome.
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| 7. |
- Saisa, Marjatta, et al.
(författare)
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Genetic differentiation among European whitefish ecotypes based on microsatellite data
- 2008
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661 .- 1601-5223. ; 145:2, s. 69-83
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Tidskriftsartikel (refereegranskat)abstract
- The amount of genetic differentiation at DNA microsatellite loci in European whitefish (Coregonus lavaretus) was assessed among ecotypes, populations and run-timing types. The magnitude of genetic changes potentially caused by hatchery broodstock rearing were also compared with those observed in corresponding natural populations. A total of 35 populations were studied, including 33 Coregonus lavaretus populations and two samples of Coregonus peled. Five of the six whitefish ecotypes in Finland were represented within C. lavaretus populations. Genetic diversity among C. lavaretus populations proved to be high compared to two C. peled populations. The genetic D-A distance between these two species was as high as 0.86. The genetic differentiation among ecotypes was generally low and thus gives support for the hypothesis of one native European whitefish species in Scandinavia. Among the ecotypes the northern, large sparsely-rakered, bottom-dwelling whitefish was most unique. Thus, observed genetic differences in quantitative traits have either developed independently of phylogenetic lineages, or have mixed and later changed according to environments and selection pressures. Overall genetic distances between the anadromous whitefish populations along the Finnish coast, especially in the Bothnian Bay area, were small. Populations of this area have been heavily influenced by human activities, and they also have the highest probability of mixing by natural means. In two cases, the Rivers Iijoki and Tornionjoki, statistically significant genetic differences could be observed between summer- and autumn-run spawning-time types. Wild populations had slightly higher allelic diversity than hatchery-reared populations of corresponding rivers. Although some reduction in genetic diversity during hatchery rearing is possible, it is an important aid in maintaining endangered populations.
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| 8. |
- Svensson, Malin J, et al.
(författare)
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Thioredoxin-2 affects lifespan and oxidative stress in Drosophila
- 2007
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Ingår i: Hereditas. - Oxford : Blackwell. - 0018-0661 .- 1601-5223. ; 144:1, s. 25-32
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Thioredoxins are proteins that have thiol-reducing activity and a characteristic conserved active site (WCGPC). They have several documented functions, e.g. roles in defences against oxidative stress and as electron donors for ribonucleotidereductase. In Drosophila melanogaster there are three ‘‘classical’’ thioredoxins with the conserved active site: deadhead, ThioredoxinT and Thioredoxin-2. Here, we report the creation of null-mutations in the Thioredoxin-2 (Trx-2) gene. Characterization of two Trx-2 mutants indicated that Trx-2 affects the lifespan of D. melanogaster, and is involved in the organism’s oxidative stress protection system. We found that the mutants have a shorter lifespan than wild-type flies, and thioredoxin double mutant flies showed lower tolerance to oxidative stress than wild-type flies, while flies carrying multiple copies of a Trx-2 rescue construct showed higher tolerance. These findings suggest that Trx-2 has modest or redundant functions in Drosophila physiology under unstressed conditions, but could be important during times of environmental stress.
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| 9. |
- Lönn, Mikael, et al.
(författare)
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Hybrids and fruit set in a mixed flowering-time population of Gymnadenia conopsea (Orchidaceae)
- 2006
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661 .- 1601-5223. ; 143:1, s. 222-228
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Tidskriftsartikel (refereegranskat)abstract
- We have recently found that the morphologically determined subspecies Gymnadenia conopsea ssp conopsea in Sweden includes early and late flowering individuals. We were interested in the interactions between the flowering time groups; if there were gene flow between them and if so this was detrimental or advantageous. A spatially mixed population of early and late flowering individuals was studied using three microsatellite loci. We measured patterns in genetic differentiation and inferred occurrence of hybridisation and introgression. Variation in flowering time, fertility and relative and absolute fruit set was measured. The pattern of introgression between flowering-time groups differed between loci. In two of the three investigated loci, allele separation was distinct between early and late flowering plants and one genetically obvious hybrid was infertile. In the third locus, several alleles were shared between the two flowering time variants. The degree of introgression was associated to fruit set failure, which was higher in the late flowering plants and lower in early flowering plants. A small group of early flowering individuals with somewhat delayed flowering compared to the main group was genetically distinct and had lower relative and absolute fruit set. This group was not genetically intermediate, but rather constituting an independent group, with lower fruit set possibly caused by absence of pollinators. There seem to be a strong barrier against introgression into the late flowering group which is kept genetically distinct and less diverse. The early flowering group is diverse, includes two subgroups and seems to benefit from gene flow.
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| 10. |
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