In Nature this week, a team led by investigators at the Wellcome Trust Sanger Institute presents "the assembly and analysis of a genome sequence for the western lowland gorilla," and proposes "a synthesis of genetic and fossil evidence consistent with placing the human-chimpanzee and human-chimpanzee-gorilla speciation events at approximately 6 and 10 million years ago." Further, the team reports having found that in 30 percent of the genome, "gorilla is closer to human or chimpanzee than the latter are to each other." Our sister publication GenomeWeb Daily News has more on the gorilla genome.
Over in Nature Genetics, a team led by researchers at Massachusetts General Hospital reports having sequenced 141 breakpoints from cytogenetically interpreted translocations and inversions to define "the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution." The researchers found inversion was the most common rearrangement, suggesting to them that "a combined mechanism involving template switching and non-homologous repair mediates the formation of balanced complex rearrangements that are viable, stably replicated and transmitted unaltered to subsequent generations."
Elsewhere in the journal, investigators at the University College London Institute of Child Health and their colleagues show that "mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia." The team identified loss-of-function mutations in the gene in individuals from families with situs inversus and defects in the assembly of inner and outer dynein arms, it reports.
Also in Nature Genetics this week, researchers in Paris identify a "new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion." The team used RNA-seq on samples from patients diagnoses with small round cell tumors of bone, but who lacked the canonical EWSR1-ETS translocation associated with Ewing sarcoma, eventually identifying this new gene fusion and defining a new bone sarcoma subtype.