Department of Microbiology and Immunology, University of California, San Francisco, San Francisco, CA 94143-2200, USA.
Science. 2010 Nov 5;330(6005):838-41. doi: 10.1126/science.1194554.
The evolutionary forces responsible for intron loss are unresolved. Whereas research has focused on protein-coding genes, here we analyze noncoding small nucleolar RNA (snoRNA) genes in which introns, rather than exons, are typically the functional elements. Within the yeast lineage exemplified by the human pathogen Candida albicans, we find--through deep RNA sequencing and genome-wide annotation of splice junctions--extreme compaction and loss of associated exons, but retention of snoRNAs within introns. In the Saccharomyces yeast lineage, however, we find it is the introns that have been lost through widespread degeneration of splicing signals. This intron loss, perhaps facilitated by innovations in snoRNA processing, is distinct from that observed in protein-coding genes with respect to both mechanism and evolutionary timing.
导致内含子丢失的进化力量仍未解决。虽然研究主要集中在编码蛋白质的基因上,但在这里,我们分析了非编码小核仁 RNA(snoRNA)基因,其中内含子而不是外显子通常是功能元件。在以人类病原体白假丝酵母为代表的酵母谱系中,我们通过深度 RNA 测序和剪接接头的全基因组注释发现——存在极端的压缩和相关外显子的丢失,但内含子中保留了 snoRNA。然而,在酿酒酵母谱系中,我们发现通过剪接信号的广泛退化丢失的是内含子。这种内含子丢失,可能是 snoRNA 加工的创新所促成的,与在编码蛋白质的基因中观察到的丢失在机制和进化时间上都有所不同。