Spatial Vision Deficits in Infants and Children with Down Syndrome

purpose. Infants and children with Down syndrome show reduced visual acuity and contrast sensitivity when tested with conventional behavioral techniques. These results may reflect sensory deficits of optical or neural origin or a loss of performance in mechanisms responsible for generating the behavioral response. The purpose of this study was to compare objective acuity and contrast sensitivity measurements recorded with visual-evoked potentials (VEPs), with behavioral clinical test results in a group of children with Down syndrome and a group of control subjects. The goal was to determine whether children with Down syndrome still have a sensory deficit when tested using a procedure that is less cognitively demanding than conventional tests. methods. The subject group comprised 58 children with Down syndrome and 44 control subjects, aged 3 months to 14.15 years. Visual acuity and contrast sensitivity were measured with steady state, swept VEPs and behavioral techniques. VEP acuity was obtained from 36 children with Down syndrome and 40 control subjects, and behavioral acuity from 54 children with Down syndrome and 35 control subjects. VEP contrast sensitivity was measured in 24 children with Down syndrome and 34 control subjects, and behavioral contrast sensitivity in 42 children with Down syndrome and 25 control subjects. Group differences in visual acuity and contrast sensitivity were analyzed with an analysis of covariance (ANCOVA), with age as a covariate. results. Visual acuity thresholds were significantly lower in the group with Down syndrome than in the control group. This was true for both VEP (P < 0.01) and behavioral measures (P < 0.01). The Down syndrome group also had reduced contrast sensitivity when compared with the control subjects, for VEP contrast sensitivity (P < 0.01) and behavioral contrast sensitivity (P < 0.01). The group differences remained when children with ophthalmic anomalies were excluded from the analysis. conclusions. The reduced visual acuity and contrast sensitivity in the Down syndrome group support the idea of an underlying sensory deficit in the visual system in Down syndrome

qTeller: a tool for comparative multi-genomic gene expression analysis

Motivation: Over the last decade, RNA-Seq whole-genome sequencing has become a widely used method for measuring and understanding transcriptome-level changes in gene expression. Since RNA-Seq is relatively inexpensive, it can be used on multiple genomes to evaluate gene expression across many different conditions, tissues and cell types. Although many tools exist to map and compare RNA-Seq at the genomics level, few web-based tools are dedicated to making data generated for individual genomic analysis accessible and reusable at a gene-level scale for comparative analysis between genes, across different genomes and meta-analyses. Results: To address this challenge, we revamped the comparative gene expression tool qTeller to take advantage of the growing number of public RNA-Seq datasets. qTeller allows users to evaluate gene expression data in a defined genomic interval and also perform two-gene comparisons across multiple user-chosen tissues. Though previously unpublished, qTeller has been cited extensively in the scientific literature, demonstrating its importance to researchers. Our new version of qTeller now supports multiple genomes for intergenomic comparisons, and includes capabilities for both mRNA and protein abundance datasets. Other new features include support for additional data formats, modernized interface and back-end database and an optimized framework for adoption by other organisms’ databases. Availability and implementation: The source code for qTeller is open-source and available through GitHub (https:// github.com/Maize-Genetics-and-Genomics-Database/qTeller). A maize instance of qTeller is available at the Maize Genetics and Genomics database (MaizeGDB) (https://qteller.maizegdb.org/), where we have mapped over 200 unique datasets from GenBank across 27 maize genomes

Association mapping across a multitude of traits collected in diverse environments in maize

Classical genetic studies have identified many cases of pleiotropy where mutations in individual genes alter many different phenotypes. Quantitative genetic studies of natural genetic variants frequently examine one or a few traits, limiting their potential to identify pleiotropic effects of natural genetic variants. Widely adopted community association panels have been employed by plant genetics communities to study the genetic basis of naturally occurring phenotypic variation in a wide range of traits. High-density genetic marker data—18M markers—from 2 partially overlapping maize association panels comprising 1,014 unique genotypes grown in field trials across at least 7 US states and scored for 162 distinct trait data sets enabled the identification of of 2,154 suggestive marker-trait associations and 697 confident associations in the maize genome using a resampling-based genome-wide association strategy. The precision of individual marker-trait associations was estimated to be 3 genes based on a reference set of genes with known phenotypes. Examples were observed of both genetic loci associated with variation in diverse traits (e.g., above-ground and below-ground traits), as well as individual loci associated with the same or similar traits across diverse environments. Many significant signals are located near genes whose functions were previously entirely unknown or estimated purely via functional data on homologs. This study demonstrates the potential of mining community association panel data using new higher-density genetic marker sets combined with resampling-based genome-wide association tests to develop testable hypotheses about gene functions, identify potential pleiotropic effects of natural genetic variants, and study genotype-by-environment interaction

Transposed Genes in Arabidopsis Are Often Associated with Flanking Repeats

Much of the eukaryotic genome is known to be mobile, largely due to the movement of transposons and other parasitic elements. Recent work in plants and Drosophila suggests that mobility is also a feature of many nontransposon genes and gene families. Indeed, analysis of the Arabidopsis genome suggested that as many as half of all genes had moved to unlinked positions since Arabidopsis diverged from papaya roughly 72 million years ago, and that these mobile genes tend to fall into distinct gene families. However, the mechanism by which single gene transposition occurred was not deduced. By comparing two closely related species, Arabidopsis thaliana and Arabidopsis lyrata, we sought to determine the nature of gene transposition in Arabidopsis. We found that certain categories of genes are much more likely to have transposed than others, and that many of these transposed genes are flanked by direct repeat sequence that was homologous to sequence within the orthologous target site in A. lyrata and which was predominantly genic in identity. We suggest that intrachromosomal recombination between tandemly duplicated sequences, and subsequent insertion of the circular product, is the predominant mechanism of gene transposition

Following Tetraploidy in Maize, a Short Deletion Mechanism Removed Genes Preferentially from One of the Two Homeologs

Following genome duplication and selfish DNA expansion, maize used a heretofore unknown mechanism to shed redundant genes and functionless DNA with bias toward one of the parental genomes

Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same regio

Data from: Different gene families in Arabidopsis thaliana transposed in different epochs and at different frequencies throughout the rosids

Certain types of gene families, such as those encoding most families of transcription factors, maintain their chromosomal syntenic positions throughout Angiosperm evolutionary time. Other, non-syntenic gene families are prone to deletion, tandem duplication, and transposition. Here we describe the chromosomal positional history of all genes in Arabidopsis thaliana (A. thaliana) throughout the rosid superorder. We introduce a public database where researchers can look up the positional history of their favorite A. thaliana gene or gene family. Finally, we show that specific gene families transposed at specific points in evolutionary time, particularly after whole-genome duplication events in the Brassicales, and suggest that genes in mobile gene families are under different selection pressure than syntenic genes

Arabidopsis Positional History Dataset

Information includes chromosome start/stop, strand, duplicate state (parent=P, duplicate=AT number, or interrupter=I), TAIR9 gene description, the chromosomal position for each outgroup (-, S, G, FN, FB, F), the numerical synteny value for each chromosomal position (1=S except for grape, where 2=S; 0.2=FB or FN, 0.1=G or -, and 0=F), total synteny value (the average of all synteny values for all outgroups), whether or not the gene had any exons (TAIR9 data), TAIR8 chromosome start/stop, functional gene space, the difference between gene space and functional gene space. Functional gene space, CNS data, GO terms, and homeolog data is from Version 2 as annotated by S. Subramaniam in this lab, unpublished. The CNS data was originally from TAIR8 but has been merged with TAIR9. Following this are TAIR9 GEvo link, and best hit data in A. lyrata and poplar for all transposed genes

Tissue-specific gene expression and protein abundance patterns are associated with fractionation bias in maize

BACKGROUND:Maize experienced a whole-genome duplication event approximately 5 to 12 million years ago. Because this event occurred after speciation from sorghum, the pre-duplication subgenomes can be partially reconstructed by mapping syntenic regions to the sorghum chromosomes. During evolution, maize has had uneven gene loss between each ancient subgenome. Fractionation and divergence between these genomes continue today, constantly changing genetic make-up and phenotypes and influencing agronomic traits. RESULTS:Here we regenerate the subgenome reconstructions for the most recent maize reference genome assembly. Based on both expression and abundance data for homeologous gene pairs across multiple tissues, we observed functional divergence of genes across subgenomes. Although the genes in the larger maize subgenome are often expressing more highly than their homeologs in the smaller subgenome, we observed cases where homeolog expression dominance switches in different tissues. We demonstrate for the first time that protein abundances are higher in the larger subgenome, but they also show tissue-specific dominance, a pattern similar to RNA expression dominance. We also find that pollen expression is uniquely decoupled from protein abundance. CONCLUSION:Our study shows that the larger subgenome has a greater range of functional assignments and that there is a relative lack of overlap between the subgenomes in terms of gene functions than would be suggested by similar patterns of gene expression and protein abundance. Our study also revealed that some reactions are catalyzed uniquely by the larger and smaller subgenomes. The tissue-specific, nonequivalent expression-level dominance pattern observed here implies a change in regulatory control which favors differentiated selective pressure on the retained duplicates leading to eventual change in gene functions

Spatial transcriptional signatures define margin morphogenesis along the proximal–distal and medio-lateral axes in tomato (Solanum lycopersicum) leaves

Leaf morphogenesis involves cell division, expansion, and differentiation in the developing leaf, which take place at different rates and at different positions along the medio-lateral and proximal-distal leaf axes. The gene expression changes that control cell fate along these axes remain elusive due to difficulties in precisely isolating tissues. Here, we combined rigorous early leaf characterization, laser capture microdissection, and transcriptomic sequencing to ask how gene expression patterns regulate early leaf morphogenesis in wild-type tomato (Solanum lycopersicum) and the leaf morphogenesis mutant trifoliate. We observed transcriptional regulation of cell differentiation along the proximal-distal axis and identified molecular signatures delineating the classically defined marginal meristem/blastozone region during early leaf development. We describe the role of endoreduplication during leaf development, when and where leaf cells first achieve photosynthetic competency, and the regulation of auxin transport and signaling along the leaf axes. Knockout mutants of BLADE-ON-PETIOLE2 exhibited ectopic shoot apical meristem formation on leaves, highlighting the role of this gene in regulating margin tissue identity. We mapped gene expression signatures in specific leaf domains and evaluated the role of each domain in conferring indeterminacy and permitting blade outgrowth. Finally, we generated a global gene expression atlas of the early developing compound leaf