Alternative splicing of the human gene SYBL1 modulates protein domain architecture of longin VAMP7/TI-VAMP, showing both non-SNARE and synaptobrevin-like isoforms

<p>Abstract</p> <p>Background</p> <p>The control of intracellular vesicle trafficking is an ideal target to weigh the role of alternative splicing in shaping genomes to make cells. Alternative splicing has been reported for several Soluble <it>N</it>-ethylmaleimide-sensitive factor Attachment protein REceptors of the vesicle (v-SNAREs) or of the target membrane (t-SNARES), which are crucial to intracellular membrane fusion and protein and lipid traffic in Eukaryotes. However, splicing has not yet been investigated in Longins, i.e. the most widespread v-SNAREs. Longins are essential in Eukaryotes and prototyped by VAMP7, Sec22b and Ykt6, sharing a conserved N-terminal Longin domain which regulates membrane fusion and subcellular targeting. Human VAMP7/TI-VAMP, encoded by gene SYBL1, is involved in multiple cell pathways, including control of neurite outgrowth.</p> <p>Results</p> <p>Alternative splicing of SYBL1 by exon skipping events results in the production of a number of VAMP7 isoforms. In-frame or frameshift coding sequence modifications modulate domain architecture of VAMP7 isoforms, which can lack whole domains or domain fragments and show variant or extra domains. Intriguingly, two main types of VAMP7 isoforms either share the inhibitory Longin domain and lack the fusion-promoting SNARE motif, or vice versa. Expression analysis in different tissues and cell lines, quantitative real time RT-PCR and confocal microscopy analysis of fluorescent protein-tagged isoforms demonstrate that VAMP7 variants have different tissue specificities and subcellular localizations. Moreover, design and use of isoform-specific antibodies provided preliminary evidence for the existence of splice variants at the protein level.</p> <p>Conclusions</p> <p>Previous evidence on VAMP7 suggests inhibitory functions for the Longin domain and fusion/growth promoting activity for the Δ-longin molecule. Thus, non-SNARE isoforms with Longin domain and non-longin SNARE isoforms might have somehow opposite regulatory functions. When considering splice variants as "natural mutants", evidence on modulation of subcellular localization by variation in domain combination can shed further light on targeting determinants. Although further work will be needed to characterize identified variants, our data might open the route to unravel novel molecular partners and mechanisms, accounting for the multiplicity of functions carried out by the different members of the Longin proteins family.</p

Genetic diversity and structure of the Australian flora

AimTo investigate the relationships between species attributes and genetic parameters in Australian plant species and to determine the associations in relation to predictions from population theory and previous global analyses.LocationContinent of Australia.MethodsWe assembled a dataset of all known population genetic analyses of Australian plants based on neutral markers and catalogued them according to key species attributes, including range, abundance, range disjunction, biome and growth form; and genetic parameters, mean number of alleles per locus, observed and expected heterozygosity and population differentiation. We determined relationships between species attributes and genetic parameters using a maximum-likelihood, multimodel inference approach.ResultsWe found many associations that were consistent with predictions. Species attributes with greatest effect on genetic diversity were range size, growth form, abundance and biome. The most important attributes influencing genetic differentiation were range disjunction and abundance. We found unexpected results in the effects of biome and growth form on genetic diversity, with greater diversity in the eastern biome of Australia, and lower diversity in shrubs compared to trees.Main conclusionsOur analysis of genetic diversity of Australian plants showed associations consistent with predictions based on population genetics theory, with strong effects of range size, abundance and growth form. We identified a striking effect of range disjunction on population genetic differentiation, an effect that has received little attention in the literature. We also found some notable differences to global predictions, which were most likely explained by confounding effects across variables. This highlights that caution is needed when extrapolating trends from global analyses to regional floras. Identifying associations between species attributes and patterns of genetic diversity enables broadscale predictions to facilitate the inclusion of genetic considerations into conservation decision-making

The Dark Energy Survey: Prospects for Resolved Stellar Populations

Wide angle and deep surveys, regardless of their primary purpose, always sample a large number of stars in the Galaxy and in its satellite system. We here make a forecast of the expected stellar sample resulting from the Dark Energy Survey and the perspectives that it will open for studies of Galactic structure and resolved stellar populations in general. An estimated 1.2x10^8 stars will be sampled in DES grizY filters. This roughly corresponds to 20% of all DES sources. Most of these stars belong to the stellar thick disk and halo of the Galaxy. DES will probe low-mass stellar and sub-stellar objects at depths from 3 to 8 times larger than SDSS. The faint end of the main-sequence will be densely sampled beyond 10 kpc. The slope of the low mass end of the stellar IMF will be constrained to within a few hundredth dex, even in the thick disk and halo. In the sub-stellar mass regime, the IMF slope will be potentially constrained to within dlog ____phi(m) / dlog m ~ 0.1$. About 3x10^4 brown dwarf and at least 7.6x10^5 white dwarf candidates will be selected, the latter embedded into the thick disk and halo. The stellar halo flattening will also be constrained to within a few percent. DES will probe the main sequence of new Milky Way satellites and halo clusters for distances out to ~ 120 kpc, therefore yielding stellar surface density contrasts 1.6-1.7 times larger than those attainable with SDSS. It will also allow detection of these objects in the far reaches of the stellar halo, substantially increasing the number and quality of probes to the Galactic potential. Combined with northern samples, such as the SDSS, the DES stellar sample will yield constraints on the structure and stellar populations of Galactic components in unprecedented detail. In particular, the combined sample from both hemispheres will allow detailed studies of halo and thick disk asymmetries and triaxiality

Progress in Myrtacease genetics and genomics: Eucalyptus as the pivotal genus

The status of genomics and genetics research in the Myrtaceae, a large family of dicotyledonous woody plants, is reviewed with Eucalyptus as the focal genus. The family contains over 5,650 species in 130 to 150 genera, predominantly of neo-tropical and Southern Hemisphere distribution. Several genera are well known for their economic importance worldwide. Myrtaceae are typically diploids with small to intermediate genome size. Microsatellites have been developed for several genera while higher throughput marker systems such as diversity arrays technology and single nucleotide polymorphism are available for Eucalyptus. Molecular data have been fundamental to current perspectives on the phylogeny, phylogeography and taxonomy of the Myrtaceae, while numerous studies of genetic diversity have been carried out particularly as it relates to endangered, rare, fragmented, overharvested or economically important species. Large expressed sequence tag collections for species of Eucalyptus have recently become public to support the annotation of the Eucalyptus grandis genome. Transcriptomics in Eucalyptus has advanced by microarrays and next-generation sequencing focusing on wood development. Linkage maps for Eucalyptus display high synteny across species and have been extensively used to map quantitative trait loci for a number of traits including growth, wood quality, disease and insect resistance. Candidate gene-based association genetics have successfully found marker–trait associations for wood and fiber traits. Genomic selection experiments have demonstrated clear potential to improve the efficiency of breeding programs while freeze-tolerant transgenic Eucalyptus trials have recently been initiated. The recently released E. grandis genome, sequenced to an average coverage of 8�, will open up exceptional opportunities to advance Myrtaceae genetics and genomics research