Abstract:
:One of the large, unsolved problems in human genetics is the proportion of functional sequences in genomes. Recently, the encyclopedia of DNA elements consortium revealed that the majority of the genome is biochemically active, which were described as biochemical functions. This has been used as evidence to pronounce the death of the junk DNA concept. In evolutionary biology, junk DNAs are sequences whose gain or loss does not seriously affect fitness of the host organism. In the human genome, a large amount of biochemical activity should be to repress the sequences so as to avoid their harmful expression. The biochemical activity is very different from functionality in the light of evolution. The single nucleotide polymorphism sites associated with disease and other phenotypes may be functional, but their abundance in the active genome regions is not reliable evidence of functionality. Because of sequence-independent functions, the proportion of functional regions would be underestimated when sequence constraints are used alone. Knockout may be the most effective means of distinguishing functional sequences from junk DNA.
journal_name
Biochem Biophys Res Communjournal_title
Biochemical and biophysical research communicationsauthors
Niu DK,Jiang Ldoi
10.1016/j.bbrc.2012.12.074subject
Has Abstractpub_date
2013-01-25 00:00:00pages
1340-3issue
4eissn
0006-291Xissn
1090-2104pii
S0006-291X(12)02422-9journal_volume
430pub_type
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