Articles tagged Fundamental Research
(112 results)

A suppressor screen in C. elegans uncovers previously unknown flexibility in the genetics underlying extracellular membranes. In nearly all animal tissues, thin barriers called basement membranes anchor outward-facing layers of cells—the linings of lungs, the top layers of skin, the insides of blood vessels—to the connective tissues that support them. Mutations disrupting any major basement…

New evidence for genome instability in fly tumors suggests key similarities—and differences—from human disease processes. Human cancers display a variety of abnormal genomic features, including increased numbers of single nucleotide variants (SNVs) and copy number variants (CNVs). However, a 2014 study on a fruit fly tumor detected no elevation of SNVs or CNVs compared to non-tumor…

A new fruit fly model of Leigh syndrome reveals the importance of mtDNA variation. Inherited mitochondrial disorders pose a perplexing problem to researchers and clinicians: people with the same condition can have vastly different clinical manifestations, even if they share the same mutation. For example, a neurodegenerative disorder called Leigh syndrome, which can be caused…

Photosensitive alternative splicing of a malt fly circadian clock gene varies between northern and southern populations. Over the course of a day, most organisms undergo profound changes. Over the course of a season, the changes can be even more dramatic. For example, insects’ responses to the brisk nights and cooler days of fall and winter…

The “hyperspin” long-range enhancer deletion recapitulates disease phenotypes. In recent years, improvements in genetic testing have made it much easier to discover the causes of rare genetic diseases, but sequence data can also present new puzzles. Take split hand/-foot malformation-1 syndrome (SHFM1), which causes limb deformities, such as joined fingers, and sometimes deafness. Candidate culprits…

Yeast study suggests faulty proofreading is not to blame for link between cancer and DNA polymerase ε variants. Accurate DNA replication is a matter of life and death. The polymerases responsible for replicating DNA have built-in safeguards to defend genome integrity, including proofreading activities to correct their own errors. Abnormally error-prone variants of DNA polymerase…

The Y chromosome has an unanticipated role in sex-biased intron retention in Drosophila. Differences between males and females in sexually dimorphic species stem in part from disparities in gene expression. This sex-biased expression can be achieved through numerous means, one of which is alternative splicing. In a recent study, Wang et al. investigated differences in one…

Model organism researchers face shared challenges in communicating the value of their work. How do you get policymakers to fund research on a microscopic organism they’ve never heard of? How do you explain to the public why scientists spend time understanding yeast and frogs and flies? In 2015, the ciliate research community decided to invest…

Monomethylated H3K27 is more than just an intermediate. We often talk about biological traits as if they’re written in our DNA, but some of them aren’t in our DNA at all—instead, they’re on it in the form of chemical tags on the histone proteins our genomic DNA is wrapped around. During development, each cell’s genome…

Recent evolution of simple germ–soma division in a green alga sheds light on the early stages of complex multicellular life. Among evolution’s greatest innovations are germ cells. These specialized reproductive cells—familiar to us as sperm and eggs in humans—set the stage for complex multicellular life because they free up all the other cells in the…

Population data from Quebec reveals the genetic consequences of rapid human expansions. The majority of the 6.5 million French Canadians living in Quebec today can trace their heritage to just 8500 settlers who formed clusters around the Saint Lawrence River in the early 17th century. Most remained near those riverside settlements until 200 years later,…