An Abundant Evolutionarily Conserved CSB-PiggyBac Fusion Protein Expressed in Cockayne Syndrome

Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon 5 and are thought to generate only C-terminally truncated protein fragments. We now show that a domesticated PiggyBac-like transposon PGBD3, residing within intron 5 of the CSB gene, functions as an alternative 3′ terminal exon. The alternatively spliced mRNA encodes a novel chimeric protein in which CSB exons 1–5 are joined in frame to the PiggyBac transposase. The resulting CSB-transposase fusion protein is as abundant as CSB protein itself in a variety of human cell lines, and continues to be expressed by primary CS cells in which functional CSB is lost due to mutations beyond exon 5. The CSB-transposase fusion protein has been highly conserved for at least 43 Myr since the divergence of humans and marmoset, and appears to be subject to selective pressure. The human genome contains over 600 nonautonomous PGBD3-related MER85 elements that were dispersed when the PGBD3 transposase was last active at least 37 Mya. Many of these MER85 elements are associated with genes which are involved in neuronal development, and are known to be regulated by CSB. We speculate that the CSB-transposase fusion protein has been conserved for host antitransposon defense, or to modulate gene regulation by MER85 elements, but may cause CS in the absence of functional CSB protein

Species of Pleurosigma (Pleurosigmataceae) with lanceolate or slightly sigmoid valve outline. Analysis of type materials. Part 1.

The type material of seven taxa of Pleurosigma W. Smith were studied, including P. atlanticum Heiden & Kolbe, P. chilense Hustedt & Krasske, P. chilensis var. patagonica Ferrario & Sar, P. indicum Simonsen, P. intermedium W. Smith, P. nubecula W. Smith and P. simonsenii Hasle. All these taxa are mainly characterized by a straight or almost straight valve outline. The fine morphology of the type specimens is studied and compared with similar taxa, and appropriate taxonomic changes are proposed. The material examined included the lectotypes of P. chilense and P. atlanticum, the holotypes of P. indicum and P. simonsenii from the Friedrich Hustedt Center for Diatom Research (BRM, Germany), the isolectotypes of P. intermedium and P. nubecula from the Van Heurck Collection (BR, Belgium), and the holotype of P. chilensis var. patagonica and material of P. simonsenii collected in Argentinian coastal waters from the Herbarium of the División Ficología (LPC, Argentina). Based on light and scanning electron microscope analyses, it was concluded that P. atlanticum, P. chilense, P. indicum, P. intermedium and P. simonsenii are valid species, P. nubecula is a heterotypic synonym of P. intermedium and P. chilensis var. patagonica must be raised to specific rank under the name P. patagonicum (Ferrario & Sar) Sterrenburg & Sar stat. nov. as it differs from P. chilense in the fine morphology of the external central raphe fissures, the valve apex and the areolae near the centre