Abstract
Frequent evolutionary birth and death events have created a large quantity of biologically important, lineage‐specific DNA within mammalian genomes. The birth and death of DNA sequences is so frequent that the total number of these insertions and deletions in the human population remains unknown, although there are differences between these groups, e.g. transposable elements contribute predominantly to sequence insertion. Functional turnover – where the activity of a locus is specific to one lineage, but the underlying DNA remains conserved – can also drive birth and death. However, this does not appear to be a major driver of divergent transcriptional regulation. Both sequence and functional turnover have contributed to the birth and death of thousands of functional promoters in the human and mouse genomes. These findings reveal the pervasive nature of evolutionary birth and death and suggest that lineage‐specific regions may play an important but previously underappreciated role in human biology and disease.
Highlights
The large and varied diversity observed between individuals and across species is reflected in high levels of genetic diversity
The first personal genome sequence was only published in 2007 [5], but has been joined by a number of studies, including the 1,000 Genomes Project which sequenced over 1,000 individual genomes [6] and those from deCODE Genetics which sequenced over 2,500 individual genomes from the Icelandic population [7]
While turnover is less prevalent in cis-regulatory modules that contain multiple transcription factor (TF) bound to the same locus [55], only 279 of enhancers active in the liver alone are conserved across 10 placental genomes [41]
Summary
Citation for published version: Young, RS 2016, 'Lineage-specific genomics: Frequent birth and death in the human genome: The human genome contains many lineage-specific elements created by both sequence and functional turnover', BioEssays. Link: Link to publication record in Edinburgh Research Explorer Document Version: Publisher's PDF, known as Version of record
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