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Proceedings of the National Academy of Sciences Genetics

Proceedings of the National Academy of Sciences RSS feed -- recent Genetics articles

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{beta}-Oxidation and autophagy are critical energy providers during acute glucose depletion in Saccharomyces cerevisiae [Genetics]

The ability to tolerate and thrive in diverse environments is paramount to all living organisms, and many organisms spend a large part of their lifetime in starvation. Upon acute glucose starvation, yeast cells undergo drastic physiological and metabolic changes and reestablish a constant—although lower—level of energy production within minutes. The...

Viral infection impacts transposable element transcript amounts in Drosophila [Genetics]

Transposable elements (TEs) are genomic parasites that are found in all genomes, some of which display sequence similarity to certain viruses. In insects, TEs are controlled by the Piwi-interacting small interfering RNA (piRNA) pathway in gonads, while the small interfering RNA (siRNA) pathway is dedicated to TE somatic control and...

Oocyte aneuploidy—more tools to tackle an old problem [Genetics]

Meiosis generates a single-copy genome during two successive rounds of cell division after a single round of DNA replication. Failure to transmit exactly one copy of each chromosome during fertilization gives rise to aneuploid embryos resulting in infertility and congenital abnormalities such as Down’s syndrome. Aneuploidy attributable to meiotic errors...

Evolutionarily ancient BAH-PHD protein mediates Polycomb silencing [Genetics]

Methylation of histone H3 lysine 27 (H3K27) is widely recognized as a transcriptionally repressive chromatin modification but the mechanism of repression remains unclear. We devised and implemented a forward genetic scheme to identify factors required for H3K27 methylation-mediated silencing in the filamentous fungus Neurospora crassa and identified...

Secure large-scale genome-wide association studies using homomorphic encryption [Statistics]

Genome-wide association studies (GWASs) seek to identify genetic variants associated with a trait, and have been a powerful approach for understanding complex diseases. A critical challenge for GWASs has been the dependence on individual-level data that typically have strict privacy requirements, creating an urgent need for methods that preserve the...

Circadian clock control of eIF2{alpha} phosphorylation is necessary for rhythmic translation initiation [Genetics]

The circadian clock in eukaryotes controls transcriptional and posttranscriptional events, including regulation of the levels and phosphorylation state of translation factors. However, the mechanisms underlying clock control of translation initiation, and the impact of this potential regulation on rhythmic protein synthesis, were not known. We show...

The evolutionary history of extinct and living lions [Genetics]

Lions are one of the world’s most iconic megafauna, yet little is known about their temporal and spatial demographic history and population differentiation. We analyzed a genomic dataset of 20 specimens: two ca. 30,000-y-old cave lions (Panthera leo spelaea), 12 historic lions (Panthera leo leo/Panthera leo melanochaita) that lived between...

Mathematical modeling of human oocyte aneuploidy [Genetics]

Aneuploidy is the leading contributor to pregnancy loss, congenital anomalies, and in vitro fertilization (IVF) failure in humans. Although most aneuploid conceptions are thought to originate from meiotic division errors in the female germline, quantitative studies that link the observed phenotypes to underlying error mechanisms are lacking. In this...

Stressed DNA replication generates stressed DNA [Genetics]

Much of our understanding of eukaryotic replication dynamics, origin, and polymerase usage and replication factors has come from studies using the yeast Saccharomyces cerevisiae. From the definition of replication origins using plasmid transformation (1, 2) and two-dimensional gel electrophoresis (3), identification of replication factors using various...

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation [Genetics]

The outer segments (OS) of rod and cone photoreceptor cells are specialized sensory cilia that contain hundreds of opsin-loaded stacked membrane disks that enable phototransduction. The biogenesis of these disks is initiated at the OS base, but the driving force has been debated. Here, we studied the function of the...

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