279 research outputs found

    Transcript and protein profiling identify candidate gene sets of potential adaptive significance in New Zealand Pachycladon

    Get PDF
    <p>Abstract</p> <p>Background</p> <p>Transcript profiling of closely related species provides a means for identifying genes potentially important in species diversification. However, the predictive value of transcript profiling for inferring downstream-physiological processes has been unclear. In the present study we use shotgun proteomics to validate inferences from microarray studies regarding physiological differences in three <it>Pachycladon </it>species. We compare transcript and protein profiling and evaluate their predictive value for inferring glucosinolate chemotypes characteristic of these species.</p> <p>Results</p> <p>Evidence from heterologous microarrays and shotgun proteomics revealed differential expression of genes involved in glucosinolate hydrolysis (myrosinase-associated proteins) and biosynthesis (methylthioalkylmalate isomerase and dehydrogenase), the interconversion of carbon dioxide and bicarbonate (carbonic anhydrases), water use efficiency (ascorbate peroxidase, 2 cys peroxiredoxin, 20 kDa chloroplastic chaperonin, mitochondrial succinyl CoA ligase) and others (glutathione-S-transferase, serine racemase, vegetative storage proteins, genes related to translation and photosynthesis). Differences in glucosinolate hydrolysis products were directly confirmed. Overall, prediction of protein abundances from transcript profiles was stronger than prediction of transcript abundance from protein profiles. Protein profiles also proved to be more accurate predictors of glucosinolate profiles than transcript profiles. The similarity of species profiles for both transcripts and proteins reflected previously inferred phylogenetic relationships while glucosinolate chemotypes did not.</p> <p>Conclusions</p> <p>We have used transcript and protein profiling to predict physiological processes that evolved differently during diversification of three <it>Pachycladon </it>species. This approach has also identified candidate genes potentially important in adaptation, which are now the focus of ongoing study. Our results indicate that protein profiling provides a valuable tool for validating transcript profiles in studies of adaptive divergence.</p

    Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

    Full text link
    ObjectiveTo characterize the clinical features and neuropathology associated with recessive VAC14 mutations.MethodsWhole‐exome sequencing was used to identify the genetic etiology of a rapidly progressive neurological disease presenting in early childhood in two deceased siblings with distinct neuropathological features on post mortem examination.ResultsWe identified compound heterozygous variants in VAC14 in two deceased siblings with early childhood onset of severe, progressive dystonia, and neurodegeneration. Their clinical phenotype is consistent with the VAC14–related childhood‐onset, striatonigral degeneration recently described in two unrelated children. Post mortem examination demonstrated prominent vacuolation associated with degenerating neurons in the caudate nucleus, putamen, and globus pallidus, similar to previously reported ex vivo vacuoles seen in the late‐endosome/lysosome of VAC14‐deficient neurons. We identified upregulation of ubiquitinated granules within the cell cytoplasm and lysosomal‐associated membrane protein (LAMP2) around the vacuole edge to suggest a process of vacuolation of lysosomal structures associated with active autophagocytic‐associated neuronal degeneration.InterpretationOur findings reveal a distinct clinicopathological phenotype associated with recessive VAC14 mutations.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/142276/1/acn3487_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/142276/2/acn3487.pd

    Leech breach: a first record of the invasive freshwater leech Helobdella europaea (Hirudinea: Glossiphoniidae) in Fiji

    Get PDF
    Context. The freshwater flat leech Helobdella europaea Kutschera, 1987 is a small annelid indigenous to South America. This invasive species feeds on the haemolymph of host aquatic invertebrates, with occurrences reported from Europe, USA, Taiwan, North Africa, Hawai‘i, Australia and New Zealand. A large number of individuals were discovered in the Ba River catchment, Fiji, during a 2015–2020 freshwater biodiversity survey, raising concerns of potential impacts on endemic Fijian aquatic invertebrate fauna and ecosystem integrity. Aims. To facilitate assessments of its spread and ethology, this study employed morphological and phylogenetic analyses for verification of taxonomic identity. Methods. Phylogenetic trees were constructed using a 658 bp fragment of the mitochondrial DNA cox1 (COI) gene. The first complete mitochondrial genome sequence of H. europaea was also determined using selective multiple displacement amplification and Oxford Nanopore Technology to provide a reference for future comparative analyses and source tracking of spread to other regions. Key results. Morphological and COI analyses identified all Fijian leech specimens collected (n = 16) as H. europaea, reporting the first occurrence of this species on a south-west Pacific Island. The complete mitochondrial genome was sequenced. Conclusions. Confirmation of its presence in Fiji is a national biosecurity concern and will guide the Biosecurity Authority of Fiji and national agencies in further ecosystem assessment and response strategies. Implications. With the complete mitochondrial genome of H. europaea now available, transmission pathway traceability is possible in other regions where this species may be detected

    Water Absorption From Line-of-Sight Clouds Toward W49A

    Get PDF
    We have observed 6 clouds along the line-of-sight toward W49A using the Submillimeter Wave Astronomy Satellite (SWAS) and several ground-based observatories. The ortho-H2O 1-0 and OH (1665 and 1667 MHz) transitions are observed in absorption, whereas the low-J CO, 13CO, and C18O lines, as well as the [CI] 1-0 transition, are seen in emission. By using both the o-H218O and o-H2O absorption lines, we are able to constrain the column-averaged o-H_2O abundances in each line-of-sight cloud to within about an order of magnitude. Assuming the standard N(H2)/N(CO) ratio of 10^4, we find N(o-H2O)/N(H2) = 8.1 x 10^-8 - 4 x 10^-7 for three clouds with optically thin water lines. In three additional clouds, the H2_2O lines are saturated so we have used observations of the H218O ground-state transition to find upper limits to the water abundance of 8.2x 10^-8 - 1.5x10^-6. We measure the OH abundance from the average of the 1665 and 1667 MHz observations and find N(OH)/N(H2) = 2.3x10^-7 - 1.1x10^-6. The o-H2O and OH abundances are similar to those determined for line-of-sight water absorption features towards W51 and Sgr B2 but are higher than those seen from water emission lines in molecular clouds. However, the clouds towards W49 have lower ratios of OH relative to H2O column densities than are predicted by simple models which assume that dissociative recombination is the primary formation pathway for OH and H2O. Building on the work of Neufeld et al. (2002), we present photo-chemistry models including additional chemical effects, which can also explain the observed OH and H2O column densities as well as the observed H2O/CO abundance ratios.Comment: 32 pages, 7 figures, To appear in ApJ April 10 issu

    A large-scale study of a poultry trading network in Bangladesh: implications for control and surveillance of avian influenza viruses

    Get PDF
    Since its first report in 2007, avian influenza (AI) has been endemic in Bangladesh. While live poultry marketing is widespread throughout the country and known to influence AI dissemination and persistence, trading patterns have not been described. The aim of this study is to assess poultry trading practices and features of the poultry trading networks which could promote AI spread, and their potential implications for disease control and surveillance. Data on poultry trading practices was collected from 849 poultry traders during a cross-sectional survey in 138 live bird markets (LBMs) across 17 different districts of Bangladesh. The quantity and origins of traded poultry were assessed for each poultry type in surveyed LBMs. The network of contacts between farms and LBMs resulting from commercial movements of live poultry was constructed to assess its connectivity and to identify the key premises influencing it

    Cerebral hypomyelination associated with biallelic variants of FIG4

    Get PDF
    The lipid phosphatase gene FIG4 is responsible for Yunisâ Varón syndrome and Charcotâ Marieâ Tooth disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) white matter (leukoencephalopathy), with onset in early childhood, ranging from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. Affected individuals inherited biallelic FIG4 variants from heterozygous parents. Cultured fibroblasts exhibit enlarged vacuoles characteristic of FIG4 dysfunction. Two unrelated families segregate the same Gâ >â A variant in the +1 position of intron 21 in the homozygous state in one family and compound heterozygous in the other. This mutation in the splice donor site of exon 21 results in readâ through from exon 20 into intron 20 and truncation of the final 115 Câ terminal amino acids of FIG4, with retention of partial function. The observed CNS white matter disorder in these families is consistent with the myelination defects in the FIG4 null mouse and the known role of FIG4 in oligodendrocyte maturation. The families described here the expanded clinical spectrum of FIG4 deficiency to include leukoencephalopathy.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149294/1/humu23720-sup-0001-Supp_Mat_Lenk_2018.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149294/2/humu23720.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149294/3/humu23720_am.pd
    • …
    corecore