Recurrent mutations in the spliceosome are observed in several human cancers, but their functional and therapeutic significance remains elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of the branch point sequence (BPS) during selection of the 3' splice site (ss) in RNA splicing. Here, we report that common and tumor-specific splicing aberrations are induced by SF3B1 mutations and establish aberrant 3' ss selection as the most frequent splicing defect. Strikingly, mutant SF3B1 utilizes a BPS that differs from that used by wild-type SF3B1 and requires the canonical 3' ss to enable aberrant splicing during the second step. Approximately 50% of the aberrantly spliced mRNAs are subjected to nonsense-mediated decay resulting in downregulation of gene and protein expression. These findings ascribe functional significance to the consequences of SF3B1 mutations in cancer.

The franciscana, Pontoporia blainvillei, is a dolphin that experiences extensive incidental mortality in fisheries throughout its restricted distribution and is perhaps the most exploited species along the Atlantic coast of South America. However, the basic information required for effective conservation of this species is lacking. To understand the population structure of this platanistoid dolphin, we sequenced 418 base pairs (bp) of the control region and 68 bp of the adjacent pro-tRNA gene of the mtDNA from 20 franciscana that were captured incidentally by gill-net fisheries of Rio Grande do Sul and Rio de Janeiro, Brazil. Of 11 haplotypes found, 5 were exclusive to franciscana from Rio Grande do Sul and 6 were found only in franciscana from Rio de Janeiro and no haplotypes were shared between locations. Reconstruction of the phylogenetic relationships among the haplotypes through a maximum-likelihood analysis of sequences revealed two distinct lineages that were consistent with the geographic sampling locations. Analysis of molecular variance also showed the population structure (phiST = 0.403, p < 0.0001). Furthermore, the estimate of nucleotide diversity for the northern population (0.38 ± 0.13%) was significantly lower than for the southern population (1.01 ± 0.30%). The genetic evidence indicated that at least two populations of franciscana exist.

The conservation status of small cetaceans has significantly worsened since the 1980s, when the baiji was the only species of small cetacean listed as Endangered by IUCN. Now the baiji is almost certainly extinct and 13 other species, subspecies, or populations (hereafter units-to-conserve or units) of small cetaceans are listed as Critically Endangered (CR) on the IUCN Red List. Bycatch is the main threat to 11 of the CR units. Entanglement in gillnets contributed to the extinction of the baiji and is responsible for the imminent extinction of the vaquita. Unfortunately, there is no simple technical solution to the problem of bycatch of small cetaceans. If the 8 CR units with 100 or fewer remaining individuals are to be saved, conservation zones must be established where gillnets are eliminated and bans on their use are strictly enforced. Recent experience with the vaquita in Mexico demonstrates that enforcement of such conservation zones can be very difficult. Ineffective enforcement is also a problem for at least 4 of the other CR units. Time is very short and, unless major efforts are made now to address the bycatch problem, the prospects for CR small cetaceans and other at-risk aquatic megafauna are grim. The ultimate long-term solution to the bycatch problem is the development of efficient, inexpensive, alternative fishing gear that can replace gillnets without jeopardizing the livelihoods of fishermen. Good fishery governance and the direct involvement of fishing communities are also essential to the successful conservation of most threatened populations of small cetaceans.

No abstract

Obtaining the representative morphological data required for traditional taxonomy is difficult, and sometimes impossible, for cetaceans, especially large ones. As a result, three quarters of the 88 currently recognized extant species have no subspecies and 40 taxa likely have additional unnamed taxa. Conservation needs give urgency to improving taxonomy because unnamed taxa are unlikely to receive protection equivalent to that received by named taxa. Genetic data can improve efforts to delimit subspecies, but the markers and methods used have varied and the magnitude of genetic difference used to justify subspecies distinctions across studies has also varied. Here, we define the concepts of populations, subspecies, and species to establish a foundation for developing guidelines (data to include and analyses to conduct) and quantitative standards (the magnitude of differentiation expected at different taxonomic levels) for using genetic data to support taxonomic recognition. Our definition is particularly applicable to data‐poor groups because it allows for naming a subspecies when there is uncertainty about whether lineages have diverged sufficiently for species‐level recognition. This allows a species that lacks convincing data for lineage divergence to be recognized as a subspecies while sufficient data are accrued, which could take decades for some cetaceans.