The mtDNA control region is an area of the

mitochondrial genome Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial D ...

which is

non-coding DNA Non-coding DNA (ncDNA) sequences are components of an organism's DNA that do not encode protein sequences. Some non-coding DNA is transcribed into functional non-coding RNA molecules (e.g. transfer RNA, microRNA, piRNA, ribosomal RNA, and regul ...

. This region controls RNA and DNA synthesis. It is the most polymorphic region of the human mtDNA genome, with polymorphism concentrated in hypervariable regions. The average

nucleotide diversity Nucleotide diversity is a concept in molecular genetics which is used to measure the degree of polymorphism within a population. One commonly used measure of nucleotide diversity was first introduced by Nei and Li in 1979. This measure is defin ...

in these regions is 1.7%. Despite this variability, an

RNA Ribonucleic acid (RNA) is a polymeric molecule essential in various biological roles in coding, decoding, regulation and expression of genes. RNA and deoxyribonucleic acid ( DNA) are nucleic acids. Along with lipids, proteins, and carbohydra ...

transcript from this region has a conserved

secondary structure Protein secondary structure is the three dimensional conformational isomerism, form of ''local segments'' of proteins. The two most common Protein structure#Secondary structure, secondary structural elements are alpha helix, alpha helices and beta ...

(''pictured'') which has been found to be under

selective pressure Any cause that reduces or increases reproductive success in a portion of a population potentially exerts evolutionary pressure, selective pressure or selection pressure, driving natural selection. It is a quantitative description of the amount of ...

. The mtDNA control region contains the

origin of replication The origin of replication (also called the replication origin) is a particular sequence in a genome at which replication is initiated. Propagation of the genetic material between generations requires timely and accurate duplication of DNA by semi ...

of one strand, and the origin of

transcription Transcription refers to the process of converting sounds (voice, music etc.) into letters or musical notes, or producing a copy of something in another medium, including: Genetics * Transcription (biology), the copying of DNA into RNA, the fir ...

for both strands. There is also an

open reading frame In molecular biology, open reading frames (ORFs) are defined as spans of DNA sequence between the start and stop codons. Usually, this is considered within a studied region of a prokaryotic DNA sequence, where only one of the six possible readin ...

thought to code for 7s

ribosomal RNA Ribosomal ribonucleic acid (rRNA) is a type of non-coding RNA which is the primary component of ribosomes, essential to all cells. rRNA is a ribozyme which carries out protein synthesis in ribosomes. Ribosomal RNA is transcribed from ribosomal ...

humans Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...

but not in mice or cows, where it has been deleted.

Distinction from D-loop

The control region and mtDNA

D-loop In molecular biology, a displacement loop or D-loop is a DNA structure where the two strands of a double-stranded DNA molecule are separated for a stretch and held apart by a third strand of DNA. An R-loop is similar to a D-loop, but in this ca ...

are sometimes used synonymously in the literature; specifically the control region includes the D-loop along with adjacent transcription promoter regions. For this reason, the control region is also known by the

acronym An acronym is a word or name formed from the initial components of a longer name or phrase. Acronyms are usually formed from the initial letters of words, as in ''NATO'' (''North Atlantic Treaty Organization''), but sometimes use syllables, as ...

DLP, standing for D-Loop and associated Promoters.

Endurance study

mtDNA control region

haplotype A haplotype ( haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material ( DNA) which is inherited from two parents. Normally these organisms have their DNA or ...

s have been linked with

endurance Endurance (also related to sufferance, resilience, constitution, fortitude, and hardiness) is the ability of an organism to exert itself and remain active for a long period of time, as well as its ability to resist, withstand, recover from a ...

capacity in human subjects. A 2002 study

sequenced In genetics and biochemistry, sequencing means to determine the primary structure (sometimes incorrectly called the primary sequence) of an unbranched biopolymer. Sequencing results in a symbolic linear depiction known as a sequence which suc ...

the control region of 55 subjects and compared their haplotype with the increase in VO₂ max after an eight-week training program. They found that different haplotypes were significantly linked with the subjects' endurance. It was speculated that this was because the control region affects replication and transcription in the mitochondria.

References

External links

EMPOP
- the Mitochondrial DNA Control Region Database * {{Rfam, id=RF01853, name=Mitochondrial DNA control region secondary structure A DNA Mitochondrial genetics

Distinction from D-loop

Endurance study

See also

References

Further reading

External links