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Understanding Images

This collection of blog posts and articles showcases the research that created or inspired the journal's monthly                                                  issue image, and explains how the image helps us to understand the research question addressed in the manuscript.

COLLECTION

09/03/2019

Research Article

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a hereditary defect of motile cilia which can cause recurrent airway infections, fertility problems and hydrocephalus. Here, Linda Anderegg and colleagues analyse an Alaskan Malamute family in which two out of six puppies are affected by an autosomal recessive form of PCD. The authors identify a one bp deletion in the NME5 gene, c.43delA, leading to an early frame-shift and premature stop codon, as the cause of the PCD phenotype.

Image credit: Markoren, Pixabay

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

Recently Published Articles

Current Issue

Current Issue August 2019

08/30/2019

Research Article

A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene

Using a new statistical method, Wong and colleagues identify hereditary genetic variabilities that associate with pancreatic cancer (PC). As a proof of principle for their methodology, the authors identify BRCA2, a known PC susceptibility gene, and further identify SMG1 as a novel gene associated with risk of PC.

Image credit: Cavin Wong and colleagues

A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene

09/05/2019

Research Article

Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis

Mutations in phosphoribosyl pyrophosphate synthetase (PRPS) are associated with neurological disorders such as Arts syndrome, Charcot-Marie-Tooth disease, and non- syndromic sensorineural deafness. Using a Drosophila model of Arts syndrome, Delos Santos et al find that mutations in PRPS result in defects in lysosome-mediated and autophagy processes, which are important for neuronal homeostasis.

Image credit: Keemo Delos Santos and colleagues

Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis

08/26/2019

Research Article

A first genetic portrait of synaptonemal complex variation

In this study, Richard J. Wang and colleagues investigate the genetics of synaptonemal complex variation in the house mouse and connect it with variation in the rate of recombination. The authors find five loci and several compelling candidate genes responsible for the evolution of synaptonemal complex length within and between mouse subspecies.

A first genetic portrait of synaptonemal complex variation

Image credit: Richard J. Wang and colleagues

08/28/2019

Research Article

A Sir2-regulated locus control region in the recombination enhancer of Saccharomyces cerevisiae specifies chromosome III structure

Sir2 is a highly conserved NAD+-dependent protein deacetylase which was believed to only be involved in mating-type switching by silencing HML and HMR. However, Li, Fine et al show that Sir2 also regulates expression of a small gene (RDT1) in the recombination enhancer that is activated during mating-type switching. 

A Sir2-regulated locus control region in the recombination enhancer of Saccharomyces cerevisiae specifies chromosome III structure

Image credit: Li, Fine and colleagues

09/12/2019

Topic Page

Origins of DNA replication

In this Topic Page, Babatunde Ekundayo and Franziska Bleichert discuss commonalities and differences in replication origin organization and recognition in the three domains of life. 

Origins of DNA replication

Image credit: Ekundayo and Bleichert

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