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Explore our new Craniofacial Genetics Collection

A curated selection of research from Guest Editors Seth Weinberg, Robert Cornell and Elizabeth Leslie

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08/06/2018

research article

Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response 

Identifying and understanding how genetic variation impacts disease expression could improve diagnosis and treatment of patients. Here, Rebecca A. S. Palu and Clement Y. Chow characterize a novel regulator of the ER stress response, the long chain fatty acid elongase Baldspot/ELOVL6. In the absence of this enzyme, cells undergoing ER stress display reduced cell death, and degeneration in a Drosophila disease model. 

Image credit: Rebecca A. S. Palu and Clement Y. Chow

Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response 

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Current Issue July 2018

08/06/2018

research article

The transcription factor Dysfusion promotes fold and joint morphogenesis through regulation of Rho1

In this study, Córdoba and Estella use the formation of the fly leg joints as a model to study how Dysfusion (Dysf), a patterning transcription factor, regulates the cellular mechanisms that form the folds in the leg discs epithelium, and find that dysf modulates the localization and activity of Rho1 to drive cell apical constriction and epithelial folding in the leg disc.

Image credit: Sergio Córdoba and Carlos Estella

The transcription factor Dysfusion promotes fold and joint morphogenesis through regulation of Rho1

08/03/2018

research article

Enhanced uptake of potassium or glycine betaine or export of cyclic-di-AMP restores osmoresistance in a high cyclic-di-AMP Lactococcus lactis mutant

In this work, Pham, Nhiep et al show that a Lactococcus lactis GdpP phosphodiesterase mutant with a high intracellular pool of c-di-AMP is able to grow under hyperosmotic conditions after acquiring mutations which increase osmolyte (potassium [K+] or compatible solute) uptake or by actively exporting c-di-AMP.

Image credit: Huong Thi Pham, Nguyen Thi Hanh Nhiep and colleagues

Enhanced uptake of potassium or glycine betaine or export of cyclic-di-AMP restores osmoresistance in a high cyclic-di-AMP Lactococcus lactis mutant

08/01/2018

research article

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

In this study, Howe et al investigate the shared genetic relationship between non-syndromic cleft lip/palate (nsCL/P) and facial morphology in a sample of around 6,000 Europeans from two different studies. They show that genetic risk factors for nsCL/P are associated with decreased philtrum width in unaffected individuals from the general population, and that the relationship is likely causal.

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

Image credit: Laurence J. Howe, Sarah J. Lewis and colleagues

08/02/2018

research article

Dynamic expression patterns of Irx3 and Irx5 during germline nest breakdown and primordial follicle formation promote follicle survival in mouse ovaries

The process used to establish cell-cell communication within follicles is unknown but begins during fetal development. Anqi Fu et al discover that two related genes, Irx3 and Irx5, direct network construction. Further, if Irx3 and Irx5 are eliminated in mice, oocyte-granulosa cell contact is lost, and all follicles die within short order.

Dynamic expression patterns of Irx3 and Irx5 during germline nest breakdown and primordial follicle formation promote follicle survival in mouse ovaries

Image credit: Anqi Fu and colleagues

07/30/2018

research article

Ras-ERK-ETS inhibition alleviates neuronal mitochondrial dysfunction by reprogramming mitochondrial retrograde signaling

Here, Olivia F. Duncan, Lucy Granat et al identify Ras-ERK-ETS signaling as a novel mitochondrial retrograde signaling pathway in the Drosophila nervous system. Using a transcriptomic approach, the authors find that inhibition of Ras-ERK-ETS signaling partially reverses the mitochondrial retrograde transcriptional response.

Ras-ERK-ETS inhibition alleviates neuronal mitochondrial dysfunction by reprogramming mitochondrial retrograde signaling

Image credit: Olivia F. Duncan, Lucy Granat and colleagues

07/19/2018

perspective

C. elegans germline cell death, live!

Morales and Greenstein comment on new work showing that physiological apoptosis targets at least two distinct populations of germ cells in C. elegans, and that the apoptosis machinery efficiently recognizes cells with two nuclei, from Raiders et al.

C. elegans germline cell death, live!

Image credit: Morales and Greenstein

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