489 research outputs found

    Genetic variation and gene expression across multiple tissues and developmental stages in a non-human primate

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    By analyzing multitissue gene expression and genome-wide genetic variation data in samples from a vervet monkey pedigree, we generated a transcriptome resource and produced the first catalog of expression quantitative trait loci (eQTLs) in a nonhuman primate model. This catalog contains more genome-wide significant eQTLs per sample than comparable human resources and identifies sex- and age-related expression patterns. Findings include a master regulatory locus that likely has a role in immune function and a locus regulating hippocampal long noncoding RNAs (lncRNAs), whose expression correlates with hippocampal volume. This resource will facilitate genetic investigation of quantitative traits, including brain and behavioral phenotypes relevant to neuropsychiatric disorders

    'Prove me the bam!': victimization and agency in the lives of young women who commit violent offences

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    This article reviews the evidence regarding young women’s involvement in violent crime and, drawing on recent research carried out in HMPYOI Cornton Vale in Scotland, provides an overview of the characteristics, needs and deeds of young women sentenced to imprisonment for violent offending. Through the use of direct quotations, the article suggests that young women’s anger and aggression is often related to their experiences of family violence and abuse, and the acquisition of a negative worldview in which other people are considered as being 'out to get you' or ready to 'put one over on you'. The young women survived in these circumstances, not by adopting discourses that cast them as exploited victims, but by drawing on (sub)cultural norms and values which promote pre-emptive violence and the defence of respect. The implications of these findings for those who work with such young women are also discussed

    Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.

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    Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in numerous multigenerational pedigrees suggests that, in such families, large-effect inherited variants might play a greater role. To identify roles of rare and common variants on BP, we conducted genetic analyses in 26 Colombia and Costa Rica pedigrees ascertained for bipolar disorder 1 (BP1), the most severe and heritable form of BP. In these pedigrees, we performed microarray SNP genotyping of 838 individuals and high-coverage whole-genome sequencing of 449 individuals. We compared polygenic risk scores (PRS), estimated using the latest BP1 genome-wide association study (GWAS) summary statistics, between BP1 individuals and related controls. We also evaluated whether BP1 individuals had a higher burden of rare deleterious single-nucleotide variants (SNVs) and rare copy number variants (CNVs) in a set of genes related to BP1. We found that compared with unaffected relatives, BP1 individuals had higher PRS estimated from BP1 GWAS statistics (P = 0.001 ~ 0.007) and displayed modest increase in burdens of rare deleterious SNVs (P = 0.047) and rare CNVs (P = 0.002 ~ 0.033) in genes related to BP1. We did not observe rare variants segregating in the pedigrees. These results suggest that small-to-moderate effect rare and common variants are more likely to contribute to BP1 risk in these extended pedigrees than a few large-effect rare variants
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