Oxytocin receptors influence the development and maintenance of social behavior in zebrafish (Danio rerio)

Zebrafish are highly social teleost fish and an excellent model to study social behavior. The neuropeptide Oxytocin is associated different social behaviors as well as disorders resulting in social impairment like autism spectrum disorder. However, how Oxytocin receptor signaling affects the development and expression kinetics of social behavior is not known. In this study we investigated the role of the two oxytocin receptors, Oxtr and Oxtrl, in the development and maintenance of social preference and shoaling behavior in 2- to 8-week-old zebrafish. Using CRISPR/Cas9 mediated oxtr and oxtrl knock-out fish, we found that the development of social preference is accelerated if one of the Oxytocin receptors is knocked-out and that the knock-out fish reach significantly higher levels of social preference. Moreover, oxtr-/- fish showed impairments in the maintenance of social preference. Social isolation prior to testing led to impaired maintenance of social preference in both wild-type and oxtr and oxtrl knock-out fish. Knocking-out either of the Oxytocin receptors also led to increased group spacing and reduced polarization in a 20-fish shoal at 8 weeks post fertilization, but not at 4. These results show that the development and maintenance of social behavior is influenced by the Oxytocin receptors and that the effects are not just pro- or antisocial, but dependent on both the age and social context of the fish

The neuropeptide Pth2 dynamically senses others via mechanosensation

This is the author accepted manuscript. The final version is available from nature Research via the DOI in this recordData availability: All data are provided in this paper or the accompanying Supplementary Information files. All sequencing data have been made available under the Sequence Read Archive BioProject PRJNA627056. Gene annotation was performed using the publicly available ENSEMBL database (https://www.ensembl.org/Danio_rerio/Info/Index). The Z-Brain atlas can be downloaded from https://github.com/owenrandlett/Z-Brain60. Gene expression data from Raj et al.23 are available under the Gene Expression Omnibus accession number GSE105010.Code availability: All relevant code is available under the public repository https://github.com/Anneser/SensingOthers/Species that depend on membership in social groups for survival exhibit changes in neuronal gene expression and behaviour when they face restricted social interactions or isolation1,2,3. Here we show that, across the lifespan of zebrafish (Danio rerio), social isolation specifically decreased the level of transcription of pth2, the gene that encodes the vertebrate-specific neuropeptide Pth2. However, 30 minutes of exposure to conspecifics was sufficient to initiate a significant rescue of pth2 transcript levels in previously isolated zebrafish. Transcription of pth2 exhibited bidirectional dynamics; following the acute isolation of socially reared fish, a rapid reduction in the levels of pth2 was observed. The expression of pth2 tracked not only the presence of other fish but also the density of the group. The sensory modality that controls the expression of pth2 was neither visual nor chemosensory in origin but instead was mechanical, induced by the movements of neighbouring fish. Chemical ablation of the mechanosensitive neuromast cells within the lateral line of fish prevented the rescue of pth2 levels that was induced by the social environment. In addition, mechanical perturbation of the water at frequencies similar to the movements of the zebrafish tail was sufficient to rescue the levels of pth2 in previously isolated fish. These data indicate a previously underappreciated role for the relatively unexplored neuropeptide Pth2 in both tracking and responding to the population density of the social environment of an animal.DFG CRC 1193Max Planck Societ

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease characterized by the selective death of motor neurons in the motor cortex, brain stem and spinal cord. Recently, missense variants in the angiogenin gene (ANG), an angiogenic factor expressed in ventral horn motor neurons that is up-regulated by hypoxia, have been found in ALS patients of Irish/Scottish, North American, Italian, French and Dutch descent. To investigate the role of ANG in the German population, we screened for mutations by sequencing the entire coding region of the ANG gene in a large sample of 581 German ALS cases and 616 sex- and age-matched healthy controls. We identified two heterozygous missense variants, F(−13)L and K54E, in two German sporadic ALS cases but not in controls. Both missense variants are novel and have not been previously found in ALS cases. Our results suggest that missense variants in the ANG gene play a role in ALS in the German population and provide further evidence to support the hypothesis that angiogenic factors up-regulated by hypoxia are involved in the pathophysiology of ALS

Pompe disease diagnosis and management guideline

ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Duke Univ, Med Ctr, Durham, NC 27706 USAOregon Hlth Sci Univ, Portland, OR 97201 USANYU, Sch Med, New York, NY USAUniv Florida, Coll Med, Powell Gene Therapy Ctr, Gainesville, FL 32611 USAIndiana Univ, Bloomington, in 47405 USAUniv Miami, Miller Sch Med, Coral Gables, FL 33124 USAHarvard Univ, Childrens Hosp, Sch Med, Cambridge, MA 02138 USAUniversidade Federal de São Paulo, São Paulo, BrazilColumbia Univ, New York, NY 10027 USANYU, Bellevue Hosp, Sch Med, New York, NY USAColumbia Univ, Med Ctr, New York, NY 10027 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc

Ausbreitung von BTEX im Grundwasser: Neue Aspekte zur zukünftigen Beurteilung von Natural Attenuation.

Beim Austritt infolge von Leckagen und Unfällen können Mineralölverbindungen zu starken Boden- und Grundwasserverunreinigungen führen. BTEX-Komponenten stellen wichtige Bestandteile der Mineralöle dar. Statistische Auswertungen über die verschiedenen Schadstoffgruppen belegen, dass Kontaminationen durch BTEX nach CKW-Verunreinigungen die am häufigsten zu sanierenden Schadensfälle bilden. Daher sind detaillierte Kenntnisse über das Verhalten und die Dynamik von BTEX im Untergrund von großer Bedeutung. Ihre vergleichbar gute Löslichkeit in Wasser lässt ihnen eine besondere Bedeutung als Kontaminanten im Grundwasser zukommen. Die Lösung von BTEX-Verbindungen aus der Mineralölphase führt zur Ausbildung von Kontaminationsfahnen im Grundwasser (nachfolgend als Fahnen bezeichnet). Im Hinblick auf die Sanierung von BTEX-Fahnen sind insbesondere natürliche Schadstoffminderungsprozesse (natural attenuation = NA) von besonderem Interesse.Im Folgenden werden die wichtigsten Erkenntnisse und neue Aspekte zum Transport und zur Verteilung von BTEX-Verbindungen sowie wichtige Bedingungen für natürliche Schadstoffminderungsprozesse vorgestellt und diskutiert