Abstract:
:The human genome is often portrayed as consisting of three sequence types, each distinguished by their mode of evolution. Purifying selection is estimated to act on 2.5-5.0% of the genome, whereas virtually all remaining sequence is considered to have evolved neutrally and to be devoid of functionality. The third mode of evolution, positive selection of advantageous changes, is considered rare. Such instances have been inferred only for a handful of sites, and these lie almost exclusively within protein-coding genes. Nevertheless, the majority of positively selected sequence is expected to lie within the wealth of functional 'dark matter' present outside of the coding sequence. Here, we review the evolutionary evidence for the majority of human-conserved DNA lying outside of the protein-coding sequence. We argue that within this non-coding fraction lies at least 1 Mb of functional sequence that has accumulated many beneficial nucleotide replacements. Illuminating the functions of this adaptive dark matter will lead to a better understanding of the sequence changes that have shaped the innovative biology of our species.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Ponting CP,Lunter Gdoi
10.1093/hmg/ddl182subject
Has Abstractpub_date
2006-10-15 00:00:00pages
R170-5eissn
0964-6906issn
1460-2083pii
15/suppl_2/R170journal_volume
15 Spec No 2pub_type
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