An Auditory Illusion of Infinite Tempo Change Based on Multiple Temporal Levels

Humans and a few select insect and reptile species synchronise inter-individual behaviour without any time lag by predicting the time of future events rather than reacting to them. This is evident in music performance, dance, and drill. Although repetition of equal time intervals (i.e. isochrony) is the central principle for such prediction, this simple information is used in a flexible and complex way that accommodates both multiples, subdivisions, and gradual changes of intervals. The scope of this flexibility remains largely uncharted, and the underlying mechanisms are a matter for speculation. Here I report an auditory illusion that highlights some aspects of this behaviour and that provides a powerful tool for its future study. A sound pattern is described that affords multiple alternative and concurrent rates of recurrence (temporal levels). An algorithm that systematically controls time intervals and the relative loudness among these levels creates an illusion that the perceived rate speeds up or slows down infinitely. Human participants synchronised hand movements with their perceived rate of events, and exhibited a change in their movement rate that was several times larger than the physical change in the sound pattern. The illusion demonstrates the duality between the external signal and the internal predictive process, such that people's tendency to follow their own subjective pulse overrides the overall properties of the stimulus pattern. Furthermore, accurate synchronisation with sounds separated by more than 8 s demonstrate that multiple temporal levels are employed for facilitating temporal organisation and integration by the human brain. A number of applications of the illusion and the stimulus pattern are suggested

A kombinatív képesség rövid távú fejleszthetősége 3. évfolyamon természettudományos kontextusban

Musical aptitude is commonly measured using tasks that involve discrimination of different types of musical auditory stimuli. Performance on such different discrimination tasks correlates positively with each other and with intelligence. However, no study to date has explored these associations using a genetically informative sample to estimate underlying genetic and environmental influences. In the present study, a large sample of Swedish twins (N=10,500) was used to investigate the genetic architecture of the associations between intelligence and performance on three musical auditory discrimination tasks (rhythm, melody and pitch). Phenotypic correlations between the tasks ranged between 0.23 and 0.42 (Pearson r values). Genetic modelling showed that the covariation between the variables could be explained by shared genetic influences. Neither shared, nor non-shared environment had a significant effect on the associations. Good fit was obtained with a two-factor model where one underlying shared genetic factor explained all the covariation between the musical discrimination tasks and IQ, and a second genetic factor explained variance exclusively shared among the discrimination tasks. The results suggest that positive correlations among musical aptitudes result from both genes with broad effects on cognition, and genes with potentially more specific influences on auditory functions

Genomic, Evolutionary and Functional Analyses of Diapause in Drosophila Melanogaster

Understanding the genetic basis of adaptation has been and remains to be one major goal of ecological and evolutionary genetics. The variation in diapause propensity in the model organism Drosophila melanogaster represents different life-history strategies underlying adaptation to regular and widespread environmental heterogeneity, thus provides an ideal model to study the genetic control of ecologically important complex phenotype. This work employs global genomic and transcriptomic approaches to identify genetic polymorphisms co-segregating with diapause propensity, as well as genes that are differentially regulated at the transcriptional level as a function of the diapause phenotype. I show that genetic polymorphisms co-segregating with diapause propensity are found throughout all major chromosomes, demonstrating that diapause is a multi-genic trait. I show that diapause in D. melanogaster is an actively regulated phenotype at the transcriptional level, suggesting that diapause is not a simple physiological or reproductive quiescence. I also demonstrate that genetic polymorphisms co-segregating with diapause propensity, as well as genes differentially expressed as a function of diapause are enriched for clinally varying and seasonal oscillating SNPs, supporting the hypothesis that natural variation in diapause propensity underlies adaptation to spatially and temporally varying selective pressures. In addition to global genomic and transcriptomic screens, I also performed functional analysis of one candidate polymorphism on the gene Crystalllin, which represents an intersection of multiple global screens related to seasonal adaptation. I show that this polymorphism affects patterns of gene expression and a subset of fitness-related phenotypes including diapause, in an environment-specific manner. Taken together, this work provide a holistic view of the genetic basis of a complex trait underlying climatic adaptation in wild populations of D. melanogaster, linking genetic polymorphism, gene regulation, organismal phenotype, population dynamics and environmental parameters

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

Many encoded gene products responsible for neurodevelopmental disorders (NDs) like autism spectrum disorders (ASD), schizophrenia (SCZ), intellectual disability (ID), and idiopathic generalized epilepsy (IGE) converge on networks controlling synaptic function. An increase in KCC2 (SLC12A5) Cl− transporter activity drives the developmental GABA excitatory-inhibitory sequence, but the role of KCC2 in human NDs is essentially unknown. Here, we report two rare, non-synonymous (NS), functionally-impairing variants in the KCC2 C-terminal regulatory domain (CTRD) in human ASD (R952H and R1049C) and SCZ (R952H) previously linked with IGE and familial febrile seizures, and another novel NS KCC2 variant in ASD (R1048W) with highly-predicted pathogenicity. Exome data from 2517 simplex families in the ASD Simon Simplex Collection (SSC) revealed significantly more KCC2 CTRD variants in ASD cases than controls, and interestingly, these were more often synonymous and predicted to disrupt or introduce a CpG site. Furthermore, full gene analysis showed ASD cases are more likely to contain rare KCC2 variants affecting CpG sites than controls. These data suggest genetically-encoded dysregulation of KCC2-dependent GABA signaling may contribute to multiple human NDs

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Functional modelling of the human timing mechanism

Behaviour occurs in time, and precise timing in the range of seconds and fractions of seconds is for most living organisms necessary for successful interaction with the environment. Our ability to time discrete actions and to predict events on the basis of prior events indicates the existence of an internal timing mechanism. The nature of this mechanism provides essential constraints on models of the functional organisation of the brain. The present work indicates that there are discontinuities in the function of time close to 1 s and 1.4 s, both in the amount of drift in a series of produced intervals (Study I) and in the detectability of drift in a series of sounds (Study II). The similarities across different tasks further suggest that action and perceptual judgements are governed by the same (kind of) mechanism. Study III showed that series of produced intervals could be characterised by different amounts of positive fractal dependency related to the aforementioned discontinuities. In conjunction with other findings in the literature, these results suggest that timing of intervals up to a few seconds is strongly dependent on previous intervals and on the duration to be timed. This argues against a clock-counter mechanism, as proposed by scalar timing theory, according to which successive intervals are random and the size of the timing error conforms to Weber's law. A functional model is proposed, expressed in an autoregressive framework, which consists of a single-interval timer with error corrective feedback. The duration-specificity of the proposed model is derived from the order of error correction, as determined by a semi-flexible temporal integration span