Heart failure is a growing clinical problem, and inherited cardiomyopathies contribute significantly to heart failure. Among the many genes associated with inherited cardiomyopathies, mutations in FLNC, the gene encoding the cytoskeletal protein filamin C, associate with a range of cardiomyopathy and increased risk for arrhythmia and sudden cardiac death in...
SCN2A encodes the NaV1.2 voltage-gated sodium channel, which is thought to contribute to the development of the central nervous system. Pathogenic variants in SCN2A have been associated with neurodevelopmental disorders (NDD), including developmental and epileptic encephalopathies (DEE), intellectual disability (ID), and autism spectrum disorder (ASD). These disorders represent a significant...
Reproduction requires a complex orchestration of processes from the formation of the reproductive system through the successful development of the fetus, and nutrients are necessary to fuel these processes during many aspects of reproduction. Zinc is an essential metal that is fundamental in gamete maturation, gonadogenesis, and fertilization. Disruption in...
Body size is one of the most discernible ways in which animal species vary. The blue whale (Balaenoptera musculus), the largest animal on earth, can reach up to 30 m in length and weigh up to 200 tonnes. At the other extreme, a species of frog called Paedophryne amauensis is...
The eukaryotic genome is packaged into chromatin. The nucleosome, the basic unit of chromatin, is composed of DNA coiled around a histone octamer. Histones are among the longest-lived protein species in mammalian cells, due to their thermodynamic stability and their associations with DNA and histone chaperones. Histone metabolism plays an...
Parasitic nematode infections are common in both humans and livestock populations around the globe. In humans, these infections cause illness which can be debilitating. In livestock, parasitic nematode infections result in poor animal health and wellbeing as well as decreases in the yield of these animals. The decrease in yield...
In nearly all Eukaryotes, the membrane-enclosed nucleus contains the vast majority of the cellular genome. Within this sub-cellular compartment, the nuclear architecture facilitates genomic chromatin organization. Controlling chromosomal loci’s spatial positioning relative to subnuclear structures and each other can have local and global effects on gene expression. Moreover, chromatin organization...
Mammalian transcriptional regulation is well-known to be complex and highly context dependent. Different genetic and epigenetic features, including single nucleotide polymorphisms (SNPs) that function as cis- or trans-expression quantitative trait loci (eQTLs), transcription factor (TF) interaction profile with cis-regulatory elements (CREs), methylation of CpG dinucleotide sequences, and histone modification that...
Genetic factors such as loss of genetic diversity, mutations, and inbreeding depression can increase a populations chances of extinction, therefore it is important to understand how these factors can contribute to populations decline. Among the genetic factors that can contribute to populations extinction, inbreeding depression is the only one that...
Phenotypic diversity underlies life as we know it–a variety of species, each with different roles, are essential for a fully functioning ecosystem just as a range of different crops is necessary to provide different nutritional value. Even within a single species, individual variation promotes diversity, allowing for adaptation to new...