Abstract
We address the problem of the annotation of CpG islands (CGIs) clusters in the human genome. Upon analyzing gene content within CGIs clusters, piRNA, tRNA, and miRNA-encoding genes were found as well as CpG-rich homeobox genes reported previously. Chromosome-wide CGI density is positively correlated with replication timing, confirming that CGIs may serve as open chromatin markers. Early embryonic stage expressed KRAB-ZNF genes abundant at chromosome 19 were found to be interlinked with CGI clusters. We detected that a number of long CGIs and CGI clusters are, in fact, tandem copies with multiple annotated macrosatellites and paralogous genes. This finding implies that tandem expansion of CGIs may serve as a substrate for non-homologous recombination events.
Original language | English |
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Pages (from-to) | 473-485 |
Number of pages | 13 |
Journal | Computer Science and Information Systems |
Volume | 15 |
Issue number | 2 |
DOIs | |
Publication status | Published - Jun 2018 |
Keywords
- Bioinformatics
- CpG islands
- DNA methylation
- Genome annotation
- Genome repeats
- Human genome
- Macrosatellite
- DNA METHYLATION
- SEQUENCES
- genome annotation
- TRANSCRIPTION
- CTCF
- HOX
- bioinformatics
- REGIONS
- human genome
- macrosatellite
- PROTEINS
- genome repeats