A fundamental question in evolutionary biology is how genetic novelty arises. De novo gene birth is a recently recognized mechanism, but the evolutionary process and function of putative de novo ...genes remain largely obscure. With a clear life-saving function, the diverse antifreeze proteins of polar fishes are exemplary adaptive innovations and models for investigating new gene evolution. Here, we report clear evidence and a detailed molecular mechanism for the de novo formation of the northern gadid (codfish) antifreeze glycoprotein (AFGP) gene from a minimal noncoding sequence. We constructed genomic DNA libraries for AFGP-bearing and AFGP-lacking species across the gadid phylogeny and performed fine-scale comparative analyses of the AFGP genomic loci and homologs. We identified the noncoding founder region and a nine-nucleotide (9-nt) element therein that supplied the codons for one Thr-Ala-Ala unit from which the extant repetitive AFGP-coding sequence (cds) arose through tandem duplications. The latent signal peptide (SP)-coding exons were fortuitous noncoding DNA sequence immediately upstream of the 9-nt element, which, when spliced, supplied a typical secretory signal. Through a 1-nt frameshift mutation, these two parts formed a single read-through open reading frame (ORF). It became functionalized when a putative translocation event conferred the essential cis promoter for transcriptional initiation. We experimentally proved that all genic components of the extant gadid AFGP originated from entirely non-genic DNA. The gadid AFGP evolutionary process also represents a rare example of the proto-ORF model of de novo gene birth where a fully formed ORF existed before the regulatory element to activate transcription was acquired.
22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in ...22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group.
Subcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individuals with 22q11DS and 330 matched healthy control subjects (age range, 6-56 years; 49% female).
Compared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen's d values, -0.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen's d values, -0.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder.
In the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses.
Background
Social attention affords learning opportunities across development and may contribute to individual differences in developmental trajectories, such as between male and female individuals, ...and in neurodevelopmental conditions, such as autism.
Methods
Using eye‐tracking, we measured social attention in a large cohort of autistic (n = 123) and nonautistic females (n = 107), and autistic (n = 330) and nonautistic males (n = 204), aged 6–30 years. Using mixed Growth Curve Analysis, we modelled sex and diagnostic effects on the temporal dynamics of proportional looking time to three types of social stimuli (lean‐static, naturalistic‐static, and naturalistic‐dynamic) and examined the link between individual differences and dimensional social and nonsocial autistic traits in autistic females and males.
Results
In the lean‐static stimulus, average face‐looking was higher in females than in males of both autistic and nonautistic groups. Differences in the dynamic pattern of face‐looking were seen in autistic vs. nonautistic females, but not males, with face‐looking peaking later in the trial in autistic females. In the naturalistic‐dynamic stimulus, average face‐looking was higher in females than in males of both groups; changes in the dynamic pattern of face looking were seen in autistic vs. nonautistic males, but not in females, with a steeper peak in nonautistic males. Lower average face‐looking was associated with higher observer‐measured autistic characteristics in autistic females, but not in males.
Conclusions
Overall, we found stronger social attention in females to a similar degree in both autistic and nonautistic groups. Nonetheless, the dynamic profiles of social attention differed in different ways in autistic females and males compared to their nonautistic peers, and autistic traits predicted trends of average face‐looking in autistic females. These findings support the role of social attention in the emergence of sex‐related differences in autistic characteristics, suggesting an avenue to phenotypic stratification.
We present the average rest-frame spectrum of high-redshift dusty, star-forming galaxies from 250 to 770 GHz. This spectrum was constructed by stacking Atacama Large Millimeter/submillimeter Array ...(ALMA) 3 mm spectra of 22 such sources discovered by the South Pole Telescope and spanning z = 2.0-5.7. In addition to multiple bright spectral features of super(12)CO, CI, and H sub(2)O, we also detect several faint transitions of super(13)CO, HCN, HNC, HCO super(+), and CN, and use the observed line strengths to characterize the typical properties of the interstellar medium of these high-redshift starburst galaxies. We find that the super(13)CO brightness in these objects is comparable to that of the only other z > 2 star-forming galaxy in which super(13)CO has been observed. We show that the emission from the high-critical density molecules HCN, HNC, HCO super(+), and CN is consistent with a warm, dense medium with T sub(kin) ~ 55 K and n sub(H2), gap 10 super(5.5) cm super(-3). High molecular hydrogen densities are required to reproduce the observed line ratios, and we demonstrate that alternatives to purely collisional excitation are unlikely to be significant for the bulk of these systems. We quantify the average emission from several species with no individually detected transitions, and find emission from the hydride CH and the linear molecule CCH for the first time at high redshift, indicating that these molecules may be powerful probes of interstellar chemistry in high-redshift systems. These observations represent the first constraints on many molecular species with rest-frame transitions from 0.4 to 1.2 mm in star-forming systems at high redshift, and will be invaluable in making effective use of ALMA in full science operations.
Using free-free emission measured in the Ka band (26-40 GHz) for 10 star-forming regions in the nearby galaxy NGC 6946, including its starbursting nucleus, we compare a number of star formation rate ...(SFR) diagnostics that are typically considered to be unaffected by interstellar extinction. These diagnostics include non-thermal radio (i.e., 1.4 GHz), total infrared (IR; 8-1000 Delta *mm), and warm dust (i.e., 24 Delta *mm) emission, along with hybrid indicators that attempt to account for obscured and unobscured emission from star-forming regions including H Delta *a + 24 Delta *mm and UV + IR measurements. The assumption is made that the 33 GHz free-free emission provides the most accurate measure of the current SFR. Among the extranuclear star-forming regions, the 24 Delta *mm, H Delta *a + 24 Delta *mm, and UV + IR SFR calibrations are in good agreement with the 33 GHz free-free SFRs. However, each of the SFR calibrations relying on some form of dust emission overestimates the nuclear SFR by a factor of ~2 relative to the 33 GHz free-free SFR. This is more likely the result of excess dust heating through an accumulation of non-ionizing stars associated with an extended episode of star formation in the nucleus rather than increased competition for ionizing photons by dust. SFR calibrations using the non-thermal radio continuum yield values which only agree with the 33 GHz free-free SFRs for the nucleus and underestimate the SFRs from the extranuclear star-forming regions by an average factor of ~2 and ~4-5 before and after subtracting local background emission, respectively. This result likely arises from the cosmic-ray (CR) electrons decaying within the starburst region with negligible escape, whereas the transient nature of star formation in the young extranuclear star-forming complexes allows for CR electrons to diffuse significantly further than dust-heating photons, resulting in an underestimate of the true SFR. Finally, we find that the SFRs estimated using the total 33 GHz flux density appear to agree well with those estimated using free-free emission due to the large thermal fractions present at these frequencies even when local diffuse backgrounds are not removed. Thus, rest-frame 33 GHz observations may act as a reliable method to measure the SFRs of galaxies at increasingly high redshift without the need of ancillary radio data to account for the non-thermal emission.
ABSTRACT
We present the first asteroseismic results for δ Scuti and γ Doradus stars observed in Sectors 1 and 2 of the TESS mission. We utilize the 2-min cadence TESS data for a sample of 117 stars ...to classify their behaviour regarding variability and place them in the Hertzsprung–Russell diagram using Gaia DR2 data. Included within our sample are the eponymous members of two pulsator classes, γ Doradus and SX Phoenicis. Our sample of pulsating intermediate-mass stars observed by TESS also allows us to confront theoretical models of pulsation driving in the classical instability strip for the first time and show that mixing processes in the outer envelope play an important role. We derive an empirical estimate of 74 per cent for the relative amplitude suppression factor as a result of the redder TESS passband compared to the Kepler mission using a pulsating eclipsing binary system. Furthermore, our sample contains many high-frequency pulsators, allowing us to probe the frequency variability of hot young δ Scuti stars, which were lacking in the Kepler mission data set, and identify promising targets for future asteroseismic modelling. The TESS data also allow us to refine the stellar parameters of SX Phoenicis, which is believed to be a blue straggler.
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