The germplasm is a resource and tool for the conservation of genetic diversity in animals, including birds. Securing germplasm is limited in most bird species due to difficulties in semen collection and germ cell isolation, lack of germ cell-specific markers, and in vitro culture systems. Here, we report the production of germline chimeric quails by transplant of cryopreserved testicular cells (TCs) into the developing embryo.The testicular germ cell properties were maintained after freeze-thaw, with no significant reduction in cell viability irrespective of storage length. Cryopreserved TCs were transferred into Hamburger Hamilton (HH) stage 14–17 quail embryos, and were demonstrated to migrate into the embryonic gonads with similar efficiency to freshly isolated TCs. Twenty of 81 recipient embryos yielded hatchlings from cryopreserved TCs and the germline transmission efficiency was similar to that of freshly isolated cells. In conclusion, cryopreserved adult quail TCs are capable of (de)differentiation into functional gametes in recipient quail gonads and can generate donor TCs-derived progenies. This system is feasible for the isolation of sufficient germplasm resources from various bird species for conservation purposes.
Difficulties with sociability include a tendency to avoid social contacts and activities, and to prefer being alone rather than being with others. While sociability is a continuously distributed trait in the population, decreased sociability represent a common early manifestation of multiple neuropsychiatric disorders such as Schizophrenia (SCZ), Bipolar Disorder (BP), Major Depressive Disorder (MDD), Autism Spectrum Disorders (ASDs), and Alzheimer’s disease (AD). We aimed to investigate the genetic underpinnings of sociability as a continuous trait in the general population. In this respect, we performed a genome-wide association study (GWAS) using a sociability score based on 4 social functioning-related self-report questions in the UK Biobank sample (n=342,461) to test the effect of individual genetic variants. This was followed by LD score analyses to investigate the genetic correlation with psychiatric disorders (SCZ, BP, MDD, ASDs) and a neurological disorder (AD) as well as related phenotypes (Loneliness and Social Anxiety). The phenotypic data indeed showed that the sociability score was decreased in individuals with ASD, (probable) MDD, BP and SCZ, but not in individuals with AD. Our GWAS showed 604 genome-wide significant SNPs, coming from 18 independent loci (SNP-based h2=0.06). Genetic correlation analyses showed significant correlations with SCZ (rg=0.15, p=9.8e-23), MDD (rg=0.68, p=6.6e-248) and ASDs (rg=0.27, p=4.5e-28), but no correlation with BP (rg=0.01, p=0.45) or AD (rg=0.04, p=0.55). Our sociability trait was also genetically correlated with Loneliness (rg=0.45, p=2.4e-8) and Social Anxiety (rg=0.48, p=0.002). Our study shows that there is a significant genetic component to variation in population levels of sociability, which is relevant to some psychiatric disorders (SCZ, MDD, ASDs), but not to BP and AD.