Discovering Intron Gain Events in Humans through Large-Scale Evolutionary Comparisons.

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Tác giả: Celine Hoh, Steven L Salzberg

Ngôn ngữ: eng

Ký hiệu phân loại: 530.136 Kinetic theories

Thông tin xuất bản: England : Genome biology and evolution , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 746245

The rapid growth in the number of sequenced genomes makes it possible to search for the appearance of entirely new introns in the human lineage. In this study, we compared the genomic sequences for 19,120 human protein-coding genes to a collection of 3493 vertebrate genomes, mapping the patterns of intron alignments onto a phylogenetic tree. This mapping allowed us to trace many intron gain events to precise locations in the tree, corresponding to distinct points in evolutionary history. We discovered 342 intron gain events, all of them relatively recent, in 293 distinct human genes. Among these events, we explored the hypothesis that intronization was the mechanism responsible for intron gain. Intronization events were identified by locating instances where human introns correspond to exonic sequences in homologous vertebrate genes. Although apparently rare, we found three compelling cases of intronization, and for each of those we compared the human protein sequence and structure to homologous genes that lack the introns.
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