In a paper published online in advance in Nature this week, members of the Heliconius Genome Consortium report having sequenced the genome of the neotropical butterfly H. melpomene, which they compared "with other taxa to investigate chromosomal evolution in Lepidoptera and gene flow among multiple Heliconius species and races." Further, using genomic resequencing, the group presents evidence of "hybrid exchange of genes between three co-mimics, H. melpomene, H. timareta, and H. elevatus, especially at two genomic regions that control mimicry pattern." Our sister publication GenomeWeb Daily News has more on this study.
In another Nature advance online publication, a team led by members of the Wellcome Trust Sanger Institute's Cancer Genome Project presents its identification of "strong correlations between mutation number, age at which cancer was diagnosed and cancer histological grade, and observed multiple mutational signatures" in 100 breast cancer tumors. "Driver mutations were identified in several new cancer genes including AKT2, ARID1B, CASP8, CDKN1B, MAP3K1, MAP3K13, NCOR1, SMARCD1 and TBX3," the authors write. "Among the 100 tumors, we found driver mutations in at least 40 cancer genes and 73 different combinations of mutated cancer genes. The results highlight the substantial genetic diversity underlying this common disease."
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
Finally, the US National Institute of Diabetes, Digestive, and Kidney Diseases' Kevin Brick and his colleagues describe a role for the PRDM9 protein "in sequestering the recombination machinery away from gene-promoter regions and other functional genomic elements" in mice. "PRDM9 determines the positions of practically all hotspots in the mouse genome, with the exception of the pseudo-autosomal region the only area of the genome that undergoes recombination in 100 percent of cells," Brick et al. write in Nature this week.