Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7

Background: Segmental duplications (SDs) are not evenly distributed along chromosomes. The reasons for this biased susceptibility to SD insertion are poorly understood. Accumulation of SDs is associated with increased genomic instability, which can lead to structural variants and genomic disorders such as the Williams-Beuren syndrome. Despite these adverse effects, SDs have become fixed in the human genome. Focusing on chromosome 7, which is particularly rich in interstitial SDs, we have investigated the distribution of SDs in the context of evolution and the three dimensional organisation of the chromosome in order to gain insights into the mutual relationship of SDs and chromatin topology. Results: Intrachromosomal SDs preferentially accumulate in those segments of chromosome 7 that are homologous to marmoset chromosome 2. Although this formerly compact segment has been re-distributed to three different sites during primate evolution, we can show by means of public data on long distance chromatin interactions that these three intervals, and consequently the paralogous SDs mapping to them, have retained their spatial proximity in the nucleus. Focusing on SD clusters implicated in the aetiology of the Williams-Beuren syndrome locus we demonstrate by cross-species comparison that these SDs have inserted at the borders of a topological domain and that they flank regions with distinct DNA conformation. Conclusions: Our study suggests a link of nuclear architecture and the propagation of SDs across chromosome 7, either by promoting regional SD insertion or by contributing to the establishment of higher order chromatin organisation themselves. The latter could compensate for the high risk of structural rearrangements and thus may have contributed to their evolutionary fixation in the human genome

Expression data of sciatic nerves from mice with Schwann-cell specific Sip1 deletion compared to control mice

Schwann cell maturation is tightly controlled by a set of transcriptional regulators. We have deleted the zinc-finger transcription factor Sip1 specifically from immature Schwann cells and observed a dramatic developmental delay. In an attempt to define the developmental stage of Sip1-deficient Schwann cells, we performed microarray analysis of Schwann cell-specific mutants compared to controls at the age of 25 days (P25). Sciatic nerves of 3 mutant mice and 3 corresponding controls were isolated at the age of 25 days

Expression data of sciatic nerves from mice with Schwann-cell specific Sip1 deletion compared to control mice

Schwann cell maturation is tightly controlled by a set of transcriptional regulators. We have deleted the zinc-finger transcription factor Sip1 specifically from immature Schwann cells and observed a dramatic developmental delay. In an attempt to define the developmental stage of Sip1-deficient Schwann cells, we performed microarray analysis of Schwann cell-specific mutants compared to controls at the age of 25 days (P25). Sciatic nerves of 3 mutant mice and 3 corresponding controls were isolated at the age of 25 days

Data from: Estimating the reproducibility of psychological science

This record contains the underlying research data for the publication "Estimating the reproducibility of psychological science" and the full-text is available from: https://ink.library.smu.edu.sg/lkcsb_research/5257Reproducibility is a defining feature of science, but the extent to which it characterizes current research is unknown. We conducted replications of 100 experimental and correlational studies published in three psychology journals using high-powered designs and original materials when available. Replication effects were half the magnitude of original effects, representing a substantial decline. Ninety-seven percent of original studies had statistically significant results. Thirty-six percent of replications had statistically significant results; 47% of original effect sizes were in the 95% confidence interval of the replication effect size; 39% of effects were subjectively rated to have replicated the original result; and if no bias in original results is assumed, combining original and replication results left 68% with statistically significant effects. Correlational tests suggest that replication success was better predicted by the strength of original evidence than by characteristics of the original and replication teams