In PLOS Genetics, a Columbia University-led team searches for rare variants contributing to a severe condition called congenital diaphragmatic hernia (CDH), uncovering damaging de novo mutations in the transcription factor-coding gene MYRF. Using new and previously sequenced exomes for 362 affected children and their unaffected parents, the researchers saw de novo coding mutations in MYRF in four CDH cases. And their subsequent search led to de novo, likely gene-disrupting changes to the same gene — implicated in myelination and oligodendrocyte differentiation — in eight more individuals with similar heart and genitourinary abnormalities, pointing to a potential MYRF-related syndrome.
Chinese Academy of Tropical Agricultural Sciences researchers report in PLOS One on results from a sequencing study of "dragon's blood," a red resin produced by the traditional medicine plant species in the Dracaena genus. After producing a draft genome assembly for the Dracaena cambodiana species, the team tracked down 53,700 predicted protein-coding genes, including 1,139 genes not found in four related plants and more than 150 cell wall-, plant hormone-, and/or reactive oxygen species-related genes that appear to show altered expression levels during dragon's blood formation.
A team from Sweden and Hungary, reporting in PLOS One, present a new human adenovirus (HAdV) genotype detected in Sweden with its PCR-based multigene HAdV typing system. The researchers used the typing approach — focused on three HAdV genes — to type 281 clinical isolates collected at two Swedish hospitals from 1978 to 2010. In the process, they saw six of the seven known HAdV species and 18 genotypes, adding in whole-genome sequence data for a handful of HAdV-86 isolates to narrow in on a new genotype dubbed HAdV-86. "Using this system … [we] could detect not only divergent strains of established types, but also a new recombinant HAdV strain with a previously unpublished combination of HAdV genomes," the authors write.