Pollen profiles from a Late Palaeolithic site in the community of Bad Buchau-Kappel, Baden-Wuerttemberg, Germany

Excavations were carried out in a Late Palaeolithic site in the community of Bad Buchau-Kappel between 2003 and 2007. Archaeological investigations covered a total of more than 200 m**2. This site is the product of what likely were multiple occupations that occurred during the Late Glacial on the Federsee shore in this location. The site is situated on a mineral ridge that projected into the former Late Glacial lake Federsee. This beach ridge consists of deposits of fine to coarse gravel and sand and was surrounded by open water, except for a connection to the solid shore on the south. A lagoon lay between the hook-shaped ridge and the shore of the Federsee. This exposed location provided optimal access to the water of the lake. In addition, the small lagoon may have served as a natural harbor for landing boats or canoes. Sedimentological and palynological investigations document the dynamic history of the location between 14,500 and 11,600 years before present (cal BP). Evidence of the deposition of sands, gravels and muds since the Bølling Interstadial is provided by stratigraphic and palynological analyses. The major occupation occurred in the second half of the Younger Dryas period. Most of the finds were located on or in the sediments of the ridge; fewer finds occurred in the surrounding mud, which was also deposited during the Younger Dryas. Direct dates on some bone fragments, however, demonstrate that intermittent sporadic occupations also took place during the two millennia of the Meiendorf, Bølling, and Allerød Interstadials. These bones were reworked during the Younger Dryas and redeposited in the mud. A 14C date from one bone of 11,600 years ago (cal BP) places the Late Palaeolithic occupation of the ridge at the very end of the Younger Dryas, which is in agreement with stratigraphic observations. Stone artifacts, numbering 3,281, comprise the majority of finds from the site. These include typical artifacts of the Late Palaeolithic, such as backed points, short scrapers, and small burins. There are no bipointes or Malaurie-Points, which is in accord with the absolute date of the occupation. A majority of the artifacts are made from a brown chert that is obtainable a few kilometers north of the site in sediments of the Graupensandrinne. Other raw materials include red and green radiolarite that occur in the fluvioglacial gravels of Oberschwaben, as well as quartzite and lydite. The only non-local material present is a few artifacts of tabular chert from the region near Kelheim in Bavaria. A unique find consists of two fragments of a double-barbed harpoon made of red deer antler, which was found in the Younger Dryas mud. It is likely, but not certain, that this find belongs to the same assemblage as the numerous stone artifacts. Although not numerous, animal bones were also found in the excavations. Most of them lay in sediments of the Younger Dryas, but several 14C dates place some of these bones in earlier periods, including the Meiendorf, Bølling, and Allerød Interstadials. These bones were reworked by water and redeposited in mud sediments during the Younger Dryas. As a result, it is difficult to attribute individual bones to particular chronological positions without exact dates. Species that could be identified include wild horse (Equus spec.), moose or elk (Alces alces), red deer (Cervus elaphus), roe deer (Capreolus capreolus), aurochs or bison (Bos spec.), wild boar (Sus scrofa), as well as birds and fish, including pike (Esox Lucius).

Late Aptian and Cenomanian-Turonian plaktonic foraminifera from DSDP Site 89-585

Planktonic foraminifers from the late Aptian and the Cenomanian-Turonian of Site 585, East Mariana Basin, provide new age data for western Pacific geologic events. The Aptian assemblage dates the volcaniclastic sequence from the bottom of Site 585 and includes several species newly reported from the Pacific Ocean. The Cenomanian-Turonian assemblage constrains the organic-carbon-rich anoxic strata recorded at Site 585 to the Cenomanian-Turonian oceanic anoxic event. Sporadic occurrences of mostly rare, poorly preserved planktonic foraminifers record pulses of sedimentation during the Aptian-Albian, Cenomanian-Turonian, Coniacian-Santonian, and Campanian-Maestrichtian that transported and reworked the pelagic sediments downslope to abyssal depositional environments.

Effects of thallus disturbance on abundance and biomass of soft-bottom species in Kongsfjorden in summer 2013

The effects of biotic disturbances, like seaweed whiplash, on the diversity of benthic communities are well documented for temperate coastal systems, yet missing for Arctic benthos. In Arctic soft-bottom habitats, kelp thalli occur either continuously (e.g. trapped by sediment) or sporadically (by drifting on the sediment) after detachment from rocky shores. To explore whether a kelp thallus can disturb the structure and diversity of a coastal Arctic soft-bottom assemblage, we continuously fixed a single thallus of the kelp Saccharina latissima to or sporadically (i.e. biweekly) moved it on the sediment and compared treatment effects to unmanipulated plots (= controls). On 6 September 2013 (i.e. after 73 days of manipulation), one sediment core was taken from each of the 30 plots (n = 10), from which the number of individuals of each of the 45 encountered animal species were recorded. The continuous presence of an experimentally fixed kelp thallus significantly reduced the number of individuals on average by 27 %. This disturbance effect was even stronger, on average 49 %, where a kelp thallus was biweekly moved on the sediment. Likewise, taxon richness was lowered by an average of 19 and 36 % where a S. latissima thallus was continuously or sporadically present, respectively. While the composition of taxa was also significantly different among all treatment groups, evenness and biomass were unaffected by kelp treatments. We conclude that the presence and already movements of a single kelp thallus can promote small scale patchiness in near-shore soft-bottom assemblage structure and diversity and exemplify a significant connection between rocky and sedimentary coastal habitats.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93-1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility.

Gene-environment interactions between adult lead exposure and Apolipoprotein E4 on adult hippocampal neurogenesis and cognitive behavior in mice

Thesis (Ph.D.)--University of Washington, 2016-06

A survey of possible associations between preharvest environment conditions and postharvest rejections of cut freesia flowers

Botrytis cinerea is the major pathogen infecting cut freesia flowers. Flecking symptoms on petals caused by this fungus result in postharvest rejections and substantial economic loss to both growers and sellers. In a limited survey for industry, numbers of freesia stems sent from a specialist grower in The Netherlands and rejected at a cut flower wholesaler in the United Kingdom were documented. Relationships between preharvest environment conditions in Holland that may predispose flowers to infection and postharvest freesia rejection levels in the United Kingdom due to B. cinerea flecking symptom expression are reported. Freesia rejections peaked during spring and, to a lesser degree, autumn periods. However, no clear correlations between preharvest growing environment conditions (e.g. 3-day means for temperature preceding harvest) and postharvest rejection frequency (%) could be discerned. Thus, sporadic freesia rejections in the United Kingdom were probably attributable either to other unresolved variables during the pre- (e.g. infection pressure) and/or postharvest (e.g. condensation events) phases or to interactions among predisposing variables.

Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling

Germline mutations of APC in patients with Turcot syndrome (colon cancer and medulloblastoma), was well as somatic mutations of APC, beta-catenin, and Axin in sporadic medulloblastomas (MBs) have shown the importance of WNT signaling in the pathogenesis of MB. A subset of children with MB have germline mutations of SUFU, a known inhibitor of Hedgehog signal transduction. A recent report suggested that murine Sufu can bind beta-catenin, export it from the nucleus, and thereby repress beta-catenin/T-cell factor (Tcf)-mediated transcription. We show that an MB-derived mutant of SUFU has lost the ability to decrease nuclear levels of beta-catenin, and cannot inhibit beta-catenin/Tcf-mediated transcription as compared to wild type SUFU. Our results suggest that loss of function of SUFU results in overactivity of both the Sonic Hedgehog, and the WNT signaling pathways, leading to excessive proliferation and failure to differentiate resulting in MB.

A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing

Introduction: Mutation testing for the MEN1 gene is a useful method to diagnose and predict individuals who either have or will develop multiple endocrine neoplasia type 1 ( MEN 1). Clinical selection criteria to identify patients who should be tested are needed, as mutation analysis is costly and time consuming. This study is a report of an Australian national mutation testing service for the MEN1 gene from referred patients with classical MEN 1 and various MEN 1- like conditions. Results: All 55 MEN1 mutation positive patients had a family history of hyperparathyroidism, had hyperparathyroidism with one other MEN1 related tumour, or had hyperparathyroidism with multiglandular hyperplasia at a young age. We found 42 separate mutations and six recurring mutations from unrelated families, and evidence for a founder effect in five families with the same mutation. Discussion: Our results indicate that mutations in genes other than MEN1 may cause familial isolated hyperparathyroidism and familial isolated pituitary tumours. Conclusions: We therefore suggest that routine germline MEN1 mutation testing of all cases of classical'' MEN1, familial hyperparathyroidism, and sporadic hyperparathyroidism with one other MEN1 related condition is justified by national testing services. We do not recommend routine sequencing of the promoter region between nucleotides 1234 and 1758 ( Genbank accession no. U93237) as we could not detect any sequence variations within this region in any familial or sporadic cases of MEN1 related conditions lacking a MEN1 mutation. We also suggest that testing be considered for patients < 30 years old with sporadic hyperparathyroidism and multigland hyperplasia

Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease

It remains unclear whether genetic variants in SNCA (the alpha-synuclein gene) alter risk for sporadic Parkinson's disease (PD). The polymorphic mixed sequence repeat (NACP-Rep I) in the promoter region of SNCA has been previously examined as a potential susceptibility factor for PD with conflicting results. We report genotype and allele distributions at this locus from 369 PD cases and 370 control subjects of European Australian ancestry, with alleles designated as -1, 0, +1, +2, and +3 as previously described. Allele frequencies designated (0) were less common in Australian cases compared to controls (OR = 0.80, 95% CI 0.62-1.03). Combined analysis including all previously published ancestral European Rep1 data yielded a highly significant association between the 0 allele and a reduced risk for PD (OR = 0.79, 95% CI 0.70-0.89, p = 0.0001). Further study must now proceed to examine in detail this interesting and biologically plausible genetic association. (C) 2004 Elsevier Ireland Ltd. All rights reserved.

Identification of two evolutionarily conserved and functional regulatory elements in intron 2 of the human BRCA1 gene

Cross-species comparative genomics is a powerful strategy for identifying functional regulatory elements within noncoding DNA. In this paper, comparative analysis of human and mouse intronic sequences in the breast cancer susceptibility gene (BRCA1) revealed two evolutionarily conserved noncoding sequences (CNS) in intron 2, 5 kb downstream of the core BRCA1 promoter. The functionality of these elements was examined using homologous-recombination-based mutagenesis of reporter gene-tagged cosmids incorporating these regions and flanking sequences from the BRCA1 locus. This showed that CNS-1 and CNS-2 have differential transcriptional regulatory activity in epithelial cell lines. Mutation of CNS-1 significantly reduced reporter gene expression to 30% of control levels. Conversely mutation of CNS-2 increased expression to 200% of control levels. Regulation is at the level of transcription and shows promoter specificity. Both elements also specifically bind nuclear proteins in vitro. These studies demonstrate that the combination of comparative genomics and functional analysis is a successful strategy to identify novel regulatory elements and provide the first direct evidence that conserved noncoding sequences in BRCA1 regulate gene expression. (c) 2005 Elsevier Inc. All rights reserved.

Investigation into the ability of Gluconacetobacter sacchari to live as an endophyte in sugarcane

The relatively low numbers and sporadic pattern of incidence of the acetic acid bacterium Gluconacetobacter sacchari with the pink sugarcane mealybug (PSMB) Saccharicoccus sacchari Cockerell (Homoptera: Pseudococcidae) over time and from different sugarcane-growing regions do not indicate that Glac. sacchari is a significant commensal of the PSMB, as has been previously proposed. This study was conducted to investigate the hypothesis that Glac. sacchari is, like its closest relative Glac. diazotrophicus, an endophyte of sugarcane (Saccharum officinarium L.). In this study, both Glac. sacchari and Glac. diazotrophicus were isolated from internal sugarcane tissue, although the detection of both species was sporadic in all sugarcane-growing regions of Queensland tested. To confirm the ability of Glac. sacchari to live endophytically, an experiment was conducted in which the roots of micropropagated sugarcane plantlets were inoculated with Glac. sacchari, and the plantlets were subsequently examined for the presence of the bacterium in the stem cells. Pure cultures of Glac. sacchari were grown from homogenized surface sterilized sugarcane stems inoculated with Glac. sacchari. Electron microscopy was used to provide further conclusive evidence that Glac. sacchari lives as an endophyte in sugarcane. Scanning electron microscopy of (SEM) sugarcane plantlet stems revealed rod-shaped cells of Glac. sacchari within a transverse section of the plantlet stem cells. The numbers of bacterial cells inside the plant cell indicated a successful infection and colonization of the plant tissue. Using transmission electron microscopy, (TEM) bacterial cells were more difficult to find, due to their spatial separation. In our study, bacteria were mostly found singularly, or in groups of up to four cells inside intercellular spaces, although bacterial cells were occasionally found inside other cells.