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Biochemistry, Genetics and Molecular Biology

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General Biochemistry, Genetics and Molecular Biology

Interdisciplinary research spanning multiple areas of biochemistry, genetics and molecular biology that bridges traditional boundaries within this field

5 papers in this specialization

Paperzilla Papers in General Biochemistry, Genetics and Molecular Biology

Genomic characterization of normal and aberrant human milk production

This study examined gene expression and cell composition in human milk samples from women with varying milk production levels. They found that milk fat globule RNA closely mirrors the RNA of milk-producing cells and identified genes associated with milk production differences, such as GLP1R, PLIN4, and KLF10. Additionally, they explored the relationship between maternal milk production and infant microbiome diversity, concluding it is influenced by infant feeding type (formula/breastfeeding) but not directly by maternal milk production level.

Genetic variants affecting RNA stability influence complex traits and disease risk

This supplementary information provides details on the methods and analyses used in the main study regarding genetic variants influencing RNA stability. It covers SNV processing, gene classification modeling, model fitting, quantifying gene expression and half-life estimation, alternative splicing analysis, data simulation, and cell line exclusions.

Interaction of genetic variants activates latent metabolic pathways in yeast

This yeast study found that combining two specific genetic variations activates a usually dormant pathway responsible for amino acid production, ultimately enhancing yeast sporulation. This pathway's activation was linked to increased mitochondrial function specifically when these two variations are present together. This suggests a potential mechanism by which gene interactions could influence complex traits in other organisms, but further research is necessary to confirm this in higher order systems.

The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health

This study explored the relationship between genetic variation and protein levels in human kidneys, mostly of European descent. Researchers identified numerous protein quantitative trait loci (pQTLs) and expression QTLs (eQTLs), indicating genetic variants associated with specific protein levels and gene expression. While this is correlational data, the findings offer potential avenues for understanding kidney health and disease.

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This study, conducted on mice, explored the role of GNAS in mitochondrial function using cellular and molecular biology techniques. The findings suggest GNAS may be an important regulator of mitochondrial activity and morphology, although further research, particularly in humans, is required to confirm these findings.