In PLOS Genetics, researchers from China and the US describe gene fusions capable of causing premature ovarian failure — a condition in which women stop menstruating before their 40th birthday. The team initially uncovered a fusion between the CSB and PGBD3 genes through exome-sequencing on five members of a large, non-consanguineous family, including three women with premature ovarian failure, one unaffected family member, and one presumed male carrier of the mutation. Three other versions of the fusion showed up during researchers' targeted sequencing on another 432 unrelated individuals with sporadic premature ovarian failure.
An Argentinian-led team used targeted mitochondrial gene sequencing and haplotype network analyses to delve into population patterns in Pontoporia blainvillei, or Franciscana dolphin, a threatened species found off the Atlantic coast of South America. As they explain in PLOS One, the researchers tested 72 dolphins from seven coastal sites, including locations within four proposed Franciscana Management Areas. In addition to identifying dozens of haplotype groups in the animals, the investigators learned more about the dolphins' genetic diversity, sub-population patterns, and relationships to one another.
Researchers from Sweden and the US took a genome-wide association study approach to finding genetic factors behind a dog immune disorder called immunoglobulin A (IgA) deficiency for another PLOS One paper. Based on genotyping profiles in hundreds of dogs from Golden Retriever, Labrador Retriever, German Shepherd, and Shar-Pei breeds, the team saw potential ties to lower-than-usual IgA levels at almost three dozen sites in the dog genome. These included three loci with significant associations — in and around the KIRREL3 and SLIT1 genes — in the German Shepherd, along with a Shar-Pei haplotype involving SLIT1 intron sequences that also seemed to coincide with IgA antibody levels.