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Evolutionary implications of pericentromeric gene expression in humans
1The Institute of Human Genetics, The International Centre For Life, University of Newcastle Upon Tyne, UK.
Cytogenetic and Genome Research
|November 17, 2004
Summary
Human pericentromeric duplications show distinct transcriptional profiles, with an excess of cancer/testis-specific genes. These unstable regions may disproportionately impact germline gene function rather than acting as common gene nurseries.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- Human pericentromeric regions feature recent sequence duplications and satellite repeats.
- These duplications may generate novel gene structures, suggesting a role as gene nurseries.
- However, satellite repeats can repress transcription, and some chromosomes suggest these regions are transcript-poor.
Purpose of the Study:
- To investigate the relationship between pericentromeric duplication and gene transcription.
- To analyze in silico transcriptional profiles in human pericentromeric regions based on duplication status.
Main Methods:
- In silico analysis of transcriptional profiles.
- Examination of the proximal 1.5 Mb of genomic sequence on all human chromosome arms.
- Comparison of transcription in duplicated versus single-copy pericentromeric sequences.
Main Results:
- Pericentromeric duplications show a ~5x excess of transcripts specific to cancer and/or testis compared to single-copy sequences.
- >50% of transcripts within pericentromeric duplications are restricted to these specific tissues.
- Duplicated regions also exhibit a ~5x excess of transcripts containing interspersed repeats.
Conclusions:
- Transcriptional profiles of duplicated and single-copy pericentromeric DNA are distinct.
- Pericentromeric instability is unlikely a common route for novel gene creation.
- These regions may disproportionately affect genes with germline-restricted functions.