Mendel laws of inheritance can be cheated by Meiotic Drive Elements (MDs), complex nuclear genetic loci found in various eukaryotic genomes and distorting segregation in their favor. Here, we identify and characterize in the model fungus Podospora anserina Spok1 and Spok2, two MDs known as Spore Killers. We show that they are related genes with both spore-killing distorter and spore-protecting ...

Introduction For more than a decade, the search for pathogenic mutations in human diseases due to respiratory chain dysfunction has been focused on the mitochondrial genome. Over 100 mutations affecting both tRNA genes and genes specifying subunits of respiratory chain complexes have now been found (11, 36). In the past few years, the focus of attention has shifted to the search for mutations w...

Brief Summary: This Mendelian randomization study analysed genetic data from 454,023 individuals the UK Biobank and 15,573 type 1 diabetes (T1D) cases other cohorts provides strong evidence that larger childhood body size increases T1D risk, independently at birth during adulthood.

We developed a platform that visualizes all the dimensions of so-called 'OMIC' data from genomic, transcriptomic, and proteomic domains, and helps users identify interesting data dimensions that might be associated with a set of clinical features of diseases. For this, we organized the textual descriptions of Clinical Synopsis fields in OMIM (Online Mendelian Inheritance in Man) into a quantita...

Traditionally, genetic disorders have been classified as either Mendelian diseases or complex diseases. This nosology has greatly benefited genetic counseling and the development of gene mapping strategies. However, based on two well-established databases, we identified that 54% (524 of 968) of the Mendelian disease genes were also involved in complex diseases, and this kind of genes has not be...

Background: Observational studies have demonstrated that increased bone mineral density is associated with a higher risk of type 2 diabetes (T2D), but the relationship with risk of coronary heart disease (CHD) is less clear. Moreover, substantial uncertainty remains about the causal relevance of increased bone mineral density for T2D and CHD, which can be assessed by Mendelian randomisation stu...

Cryptic aspects of parasite population biology, e.g., mating systems, are increasingly being inferred from polymorphic and co-dominant genetic markers such as microsatellite loci. Underlying the use of such co-dominant markers is the assumption of Mendelian inheritance. The failure to meet this assumption can lead to artifactual statistics and erroneous population inferences. Here, we illustrat...

Preimplantation genetic diagnosis (PGD) was originally developed for couples whose potential offspring were at risk of severe Mendelian disorders, but has since been extended to other indications. One possible use of PGD is to perform gender selection for couples whose offspring are at increased risk of disorders that do not follow Mendelian inheritance, but which are substantially more common ...

Depression and anxiety co-occur with substance use and abuse at a high rate. Ascertaining whether substance use plays a causal role in depression and anxiety is difficult or impossible with conventional observational epidemiology. Mendelian randomisation uses genetic variants as a proxy for environmental exposures, such as substance use, which can address problems of reverse causation and resid...