In PLOS Genetics, researchers from China, Sweden, and the Netherlands describe a HOXB8-activating structural variation linked to chicken muffs and beards. Using a combination of genomic approaches — from genome-wide association, linkage, and identity-by-descent analyses to re-sequencing, expression, and array comparative genomic hybridization experiments — the team examined genetic features in hundreds of birds descended from crosses between Huiyang Bearded chickens and a broiler chicken line. The search uncovered a tandem repeat on the chicken chromosome 27 that was linked to face muffs and beak beards in the hybrids and in chickens from nine other breeds. Among the genes within the duplication, the study's author note, HOXB8 expression in chicken facial skin is enhanced in bearded and muffed birds "providing novel insights into the likely role of HOXB8 in feather development and differentiation." GenomeWeb has more on this study, here.
A PLOS One paper by researchers in Spain and elsewhere outlines efforts to improve diagnosis of suspected inborn errors of metabolism (IEM) cases using targeted next-generation sequencing. Using a targeted sequencing panel focused on 171 genes selected based on their suspected roles in related processes, the team assessed 146 individuals, including 81 with suspected IEM based on their clinical and biochemical features and another 65 with IEM-related clinical features and other possible markers of disease. Overall, the approach led to diagnoses for half of the cases, including more than three-quarters of the individuals with both clinical and biochemical symptoms.
The complex of Histoplasma capsulatum fungi that can cause pulmonary infections called histoplasmosis contains at least half a dozen previously unknown species, according to an international team reporting in PLOS Neglected Tropical Diseases paper. The researchers brought together available gene sequences for 234 Histoplasma isolates from sites around the world, producing a phylogenetic tree that revealed new and known clades, along with six new species. The investigators also uncovered hints that Histoplasma speciation may by occurring within bat hosts, since the fungus is frequently found in soil and bat guano.