Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on noncoding sequences
- M. Sironi
- G. Menozzi
- R. Cagliani
- U. Pozzoli
- G.P. Comi
- N. Bresolin
DOIAbstract
The non-coding portion of human genome is punctuated by a large number of multispecies conserved sequence (MCS) elements with largely unknown function. We demonstrate that MCSs are unevenly distributed in human introns with the majority of relatively short introns (<9 kb long) displaying no or a few MCSs and that MCS density reaching up to 10% of total size in longer introns. After correction for intron length, MCSs were found to be enriched within genes involved in development and transcription, whereas depleted in immune response loci. Moreover, many central nervous system tissues show a preferential expression of MCS-rich genes and MCS enrichment significantly correlates with gene functional complexity in terms of distinct protein domain...
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