What is Junk DNA?

By Dr Ananya Mandal, MD; Reviewed by Sally Robertson, BSc

In genetics, the term junk DNA refers to regions of DNA that are non-coding.
DNA contains instructions (coding) that are used to create proteins in the cell. These are the
exons in the process of transcription for protein synthesis. However, the amount of DNA
contained inside each cell is vast and not all of the genetic sequences present within a DNA
molecule actually code for a protein.
Some of this non-coding DNA is used to produce non-coding RNA components such as
transfer RNA, regulatory RNA and ribosomal RNA. However, other DNA regions are not
transcribed into proteins, nor are they used to produce RNA molecules and their function is
unknown.
The proportion of coding versus non-coding DNA varies significantly between species. In the
human genome for example, almost all (98%) of the DNA is non-coding, while in bacteria,
only 2% of the genetic material does not code for anything.
The term Junk DNA
The term junk DNA was first used in the 1960s, but was formalized by Susumu Ohno in
1972. Ohno noticed that the amount of mutation occurring as a result of deleterious
mutations set a limit for the amount of functional loci that could be expected when a normal
mutation rate was considered. In a Nature review published in the 1980, Leslie Orgel and
Francis Crick stated that junk DNA had little specificity and conveys little or no selective
advantage to the organism."
However, over the years, researchers have found evidence to suggest that junk DNA may
provide some form of functional activity. Some lines of evidence suggest that fragments of
what were originally non-functional DNA have undergone the process of exaptation
throughout evolution. Exaptation refers to the acquisition of a function through means other
than natural selection.
In 2012, a research program called the ENCODE project concluded that around three
quarters of the non-coding DNA in the human genome did undergo transcription and that
almost 50% of the genome was available to the proteins involved in genetic regulation such
as transcription factors.
However, these findings have been criticized by other scientists who claim that the
accessibility of these genomic segments to transcription factors does not mean they
necessarily have any biochemical function or that transcription of the segments is in any
way advantageous in terms of evolution.
Sources
1.

http://www.stats.ox.ac.uk/~hein/HumanGenome/hg.pdf

2.

http://www.discovery.org/f/7651

3.

http://www.vcaa.vic.edu.au/Documents/vce/biology/proteomesdna.pdf

Further Reading

DNA Fraction of Junk DNA

Functions of Junk DNA

Types of Junk DNA Sequences

Last Updated: Nov 17, 2014