253 research outputs found
Interaction of Sedlin with chloride intracellular channel proteins
AbstractSedlin is an evolutionarily conserved protein encoded by the causative gene SEDL for spondyloepiphyseal dysplasia tarda. Nevertheless, how Sedlin mutations cause the disease remains unknown. Here, the intracellular chloride channel protein CLIC1 was shown to associate with Sedlin by yeast two-hybrid screening. Green fluorescence protein-CLIC1 readily co-immunoprecipitated with FLAG-Sedlin. In addition, both proteins colocalized extensively in cytoplasmic vesicular/reticular structures in COS-7 cells, suggesting their interaction at intracellular membranous organelles. Sedlin also associated with CLIC2 in yeast two-hybrid assays. The link between Sedlin and the intracellular chloride channels is the first step to understand their functional interplays
SNP@Evolution: a hierarchical database of positive selection on the human genome
<p>Abstract</p> <p>Background</p> <p>Positive selection is a driving force that has shaped the modern human. Recent developments in high throughput technologies and corresponding statistics tools have made it possible to conduct whole genome surveys at a population scale, and a variety of measurements, such as heterozygosity (HET), <it>F</it><sub><it>ST</it></sub>, and Tajima's D, have been applied to multiple datasets to identify signals of positive selection. However, great effort has been required to combine various types of data from individual sources, and incompatibility among datasets has been a common problem. SNP@Evolution, a new database which integrates multiple datasets, will greatly assist future work in this area.</p> <p>Description</p> <p>As part of our research scanning for evolutionary signals in HapMap Phase II and Phase III datasets, we built SNP@Evolution as a multi-aspect database focused on positive selection. Among its many features, SNP@Evolution provides computed <it>F</it><sub><it>ST </it></sub>and HET of all HapMap SNPs, 5+ HapMap SNPs per qualified gene, and all autosome regions detected from whole genome window scanning. In an attempt to capture multiple selection signals across the genome, selection-signal enrichment strength (E<sub>S</sub>) values of HET, <it>F</it><sub><it>ST</it></sub>, and <it>P</it>-values of iHS of most annotated genes have been calculated and integrated within one frame for users to search for outliers. Genes with significant E<sub>S </sub>or <it>P</it>-values (with thresholds of 0.95 and 0.05, respectively) have been highlighted in color. Low diversity chromosome regions have been detected by sliding a 100 kb window in a 10 kb step. To allow this information to be easily disseminated, a graphical user interface (GBrowser) was constructed with the Generic Model Organism Database toolkit.</p> <p>Conclusion</p> <p>Available at <url>http://bighapmap.big.ac.cn</url>, SNP@Evolution is a hierarchical database focused on positive selection of the human genome. Based on HapMap Phase II and III data, SNP@Evolution includes 3,619,226/1,389,498 SNPs with their computed HET and <it>F</it><sub><it>ST</it></sub>, as well as qualified genes of 21,859/21,099 with E<sub>S </sub>values of HET and <it>F</it><sub><it>ST</it></sub>. In at least one HapMap population group, window scanning for selection signals has resulted in 1,606/10,138 large low HET regions. Among Phase II and III geographical groups, 660 and 464 regions show strong differentiation.</p
Robust Dancer: Long-term 3D Dance Synthesis Using Unpaired Data
How to automatically synthesize natural-looking dance movements based on a
piece of music is an incrementally popular yet challenging task. Most existing
data-driven approaches require hard-to-get paired training data and fail to
generate long sequences of motion due to error accumulation of autoregressive
structure. We present a novel 3D dance synthesis system that only needs
unpaired data for training and could generate realistic long-term motions at
the same time. For the unpaired data training, we explore the disentanglement
of beat and style, and propose a Transformer-based model free of reliance upon
paired data. For the synthesis of long-term motions, we devise a new
long-history attention strategy. It first queries the long-history embedding
through an attention computation and then explicitly fuses this embedding into
the generation pipeline via multimodal adaptation gate (MAG). Objective and
subjective evaluations show that our results are comparable to strong baseline
methods, despite not requiring paired training data, and are robust when
inferring long-term music. To our best knowledge, we are the first to achieve
unpaired data training - an ability that enables to alleviate data limitations
effectively. Our code is released on https://github.com/BFeng14/RobustDancerComment: Preliminary video demo: https://youtu.be/gJbxG9QlcU
Glyco-platelets with controlled morphologies via crystallization-driven self-assembly and their shape-dependent interplay with macrophages
Two-dimensional
(2D) materials are of great significance to the
materials community as a result of their high surface area and controllable
surface properties. However, controlled preparation of biodegradable
2D structures with biological activity is difficult. In this work
we demonstrate that by careful selection of building block structures
and assembly conditions it is possible to use crystallization-driven
self-assembly (CDSA) to assemble well-defined 2D nanostructures from
polyÂ(l-lactide) (PLLA)-based diblock glycopolymers.
1D glyco-cylinders and 2D diamond-shaped glyco-platelets are produced,
where the underlying formation mechanism is revealed by dissipative
particle dynamics simulations. Furthermore, we demonstrate that assembly
of the polymers under mild degradation provides a straightforward
route to hollow-cored platelets, a morphology that has previously
proven laborious to access. The well-defined sizes and shapes of the
glyco-platelets allow us to investigate macrophage activation efficiency
and demonstrate clear size and shape effects, pointing toward potential
applications in immunology
Patterns of differentiation in the life history and demography of four recently described species of the Brachionus calyciflorus cryptic species complex
1. Brachionus calyciflorus is arguably the most studied freshwater
monogonont rotiâ fer. Although it has been recognised as a cryptic
species complex for more than a decade, a formal (reâ)description of the
four species known so far (B. calyciflorus, Brachionus dorcas,
Brachionus elevatus, and Brachionus fernandoi) has only recently been
made. Information on the ecology of these species is very scant and
fragâ mented. The aim of this study was to test for ecological
divergence between these four species, specifically their life history
strategy and population demography. 2. We conducted a life history
experiment using 12â16 genotypes per species. For each species,
genotypes were extracted from at least three different natural popâ
ulations. In addition, we performed populationâlevel culture experiments
with the aim to compare population growth rates and demographic
structure of experiâ mental populations among species. Finally, we
searched the literature for life hisâ tory studies with molecular data
allowing retrospective species identification. 3. We found pronounced
differences in life history traits between B. fernandoi and the other
three species. B. fernandoi had higher egg and juvenile development
times and a lower egg production rate and mictic ratio. We detected no
significant life history differences among B. calyciflorus, B. elevatus,
and B. dorcas. 4. Population growth rates of B. fernandoi and B.
calyciflorus were higher than those of B. elevatus and B. dorcas. Life
history divergence resulted in marked differences in the demographic
structure of populations. Populations of B. fernandoi conâ tained larger
fractions of preâreproductive females and lower fractions of adult
females with sexual eggs than populations of B. calyciflorus, B.
elevatus, and B. dorâ cas. Mortality was found to be highest in B.
elevatus and lowest in B. calyciflorus populations. 5. Our results show
that a reverse taxonomy approach is powerful in revealing sources of
variation in ecologically relevant traits of cryptic species, such as
life history and demographic structure. Explicit consideration of this
variation is cruâ cial for future studies of their dynamics in natural
communities. KEYWORDS ecological divergence, integrative taxonomy,
monogonont rotifer, reverse taxonomy, sibling species</p
Sources of organic matter and paleo-environmental implications inferred from carbon isotope compositions of lacustrine sediments at Inexpressible Island, Ross Sea, Antarctica
The carbon isotopic composition of organic matter (δ13Corg) was determined in two sediment cores (IIL1 and IIL9) recovered from Inexpressible Island, Ross Sea, Antarctica, and analyzed to identify the sources of that organic matter. The δ13Corg values of sediments of IIL9 were found to vary between â14.6â° and â11.6â°, with a mean of â13.4â° (n=48). These values were significantly higher than those of IIL1 sediments which varied between â23.2â° and â20.4â°, with a mean of â21.8â° (n=55). The variation in δ13Corg values in these two sediment cores indicate different sources of organic matter. The relatively high δ13Corg values in IIL9 are in accordance with a source from algae, while the low δ13Corg values in IIL1 evince significant influence from penguin guano with algae as the secondary source. Compared with the reference data from other high-latitude lake sediments and plants, the δ13Corg values in IIL9 were extremely high, a result likely related to intense competition for CO2 assimilation among algal species during the growing season in this relatively shallow pond. These results indicate that sedimentary δ13Corg is a reliable proxy for paleo-primary productivity in ponds at Inexpressible Island
DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.
BACKGROUND(#br)Multiple morphological abnormalities of the sperm flagella (MMAF) is one kind of severe asthenozoospermia, which is caused by dysplastic development of sperm flagella. In our study, we sought to investigate the novel gene mutations leading to severe asthenozoospermia and MMAF.(#br)METHODS AND MATERIALS(#br)The patientâs spermatozoa were tested by Papanicolaou staining and transmission electron microscopy. Whole exome sequencing was performed on the patient with severe asthenozoospermia and MMAF. Sanger sequencing verified the mutations in the family. The expression of DNAH17 was detected by immunofluorescence and Western blot.(#br)RESULTS(#br)Spermatozoa sample from the patient showed severe asthenozoospermia and MMAF. We detected biallelic mutations (c.C4445T, p.A1482V and c.C6857T, and p.S2286L) in DNAH17 (MIM:610063). The protein expression of DNAH17 was almost undetectable in spermatozoa from the patient with the biallelic mutations.(#br)CONCLUSION(#br)These results demonstrated that DNAH17 may be involved in severe asthenozoospermia and MMAF
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