In this week's Nature, a team led by scientists from the Wellcome Trust Sanger Institute publishes a study in which the genomes of two Plasmodium species were used to gain insights into the evolution of malaria parasites. Using a new reference genome for Plasmodium malariae and a manually curated draft of the P. ovale curtisi genome, the researchers were able to accurately place the two species within the Plasmodium phylogeny. By sequencing a P. malariae relative that infects chimpanzees, the investigators also uncovered signatures of selection in the P. malariae lineage similar to another Plasmodium lineage capable of colonizing both human and chimpanzee hosts. "Molecular dating suggests that these host adaptations occurred over similar evolutionary timescales," the study's authors note. GenomeWeb has more on this here.
Also in Nature, members of the Cancer Genome Atlas Research Network present an in-depth genomic and molecular analysis of cervical cancer, uncovering new molecular subtypes of the disease that may lead to new personalized treatment options. The investigators characterized genetic and molecular alterations in 228 primary cervical cancers and found five novel genes that are significantly mutated in cervical cancer. They also identified a new role for the BCAR4 gene, which is indirectly targeted by the breast cancer drug lapatinib. Among the new cervical cancer subtypes discovered is a set of endometrial-like cervical cancers that tend to involve HPV-negative tumors and have high frequencies of three specific genetic mutations. GenomeWeb also covers this study here.
Finally in Nature, investigators from the Deciphering Developmental Disorders Study report the sequencing and analyzing of the exomes of 4,293 individuals with severe, undiagnosed developmental disorders and their families, identifying several novel genes associated with the risk of developing such conditions. By combining their findings with a previously published analysis of more than 3,000 people with similar disorders, the investigators pinpointed 94 genes that are likely to contain damaging de novo mutations not present in either parent — including 14 not previously implicated in developmental disorders. And there's more on this, here, too.