TY - JOUR

T1 - Integration of mtDNA pseudogenes into the nuclear genome coincides with speciation of the human genus. A hypothesis

AU - Gunbin, Konstantin

AU - Peshkin, Leonid

AU - Popadin, Konstantin

AU - Annis, Sofia

AU - Ackermann, Rebecca R.

AU - Khrapko, Konstantin

N1 - Copyright © 2016 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

PY - 2017/5/1

Y1 - 2017/5/1

N2 - Fragments of mitochondrial DNA are known to get inserted into nuclear DNA to form NUMTs, i.e. nuclear pseudogenes of the mtDNA. The insertion of a NUMT is a rare event. Hundreds of pseudogenes have been cataloged in the human genome. NUMTs are, in essence, a special type of mutation with their own internal timer, which is synchronized with an established molecular clock, the mtDNA. Thus insertion of NUMTs can be timed with respect to evolution milestones such as the emergence of new species. We asked whether NUMTs were inserted uniformly over time or preferentially during certain periods of evolution, as implied by the “punctuated evolution” model. To our surprise, the NUMT insertion times do appear nonrandom with at least one cluster positioned at around 2.8 million years ago (Ma). Interestingly, 2.8 Ma closely corresponds to the time of emergence of the genus Homo, and to a well-documented period of major climate change ca. 2.9–2.5 Ma. It is tempting to hypothesize that the insertion of NUMTs is related to the speciation process. NUMTs could be either “riders”, i.e., their insertion could be facilitated by the overall higher genome rearrangement activity during speciation, or “drivers”, i.e. they may more readily get fixed in the population due to positive selection associated with speciation. If correct, the hypothesis would support the idea that evolution of our genus may have happened in a rapid, punctuated manner.

AB - Fragments of mitochondrial DNA are known to get inserted into nuclear DNA to form NUMTs, i.e. nuclear pseudogenes of the mtDNA. The insertion of a NUMT is a rare event. Hundreds of pseudogenes have been cataloged in the human genome. NUMTs are, in essence, a special type of mutation with their own internal timer, which is synchronized with an established molecular clock, the mtDNA. Thus insertion of NUMTs can be timed with respect to evolution milestones such as the emergence of new species. We asked whether NUMTs were inserted uniformly over time or preferentially during certain periods of evolution, as implied by the “punctuated evolution” model. To our surprise, the NUMT insertion times do appear nonrandom with at least one cluster positioned at around 2.8 million years ago (Ma). Interestingly, 2.8 Ma closely corresponds to the time of emergence of the genus Homo, and to a well-documented period of major climate change ca. 2.9–2.5 Ma. It is tempting to hypothesize that the insertion of NUMTs is related to the speciation process. NUMTs could be either “riders”, i.e., their insertion could be facilitated by the overall higher genome rearrangement activity during speciation, or “drivers”, i.e. they may more readily get fixed in the population due to positive selection associated with speciation. If correct, the hypothesis would support the idea that evolution of our genus may have happened in a rapid, punctuated manner.

KW - Human evolution

KW - Mitochondrial DNA

KW - NUMT

KW - Pseudogene

KW - Punctuated evolution

KW - Speciation

KW - DIVERSIFICATION

KW - SEQUENCES

KW - MITOCHONDRIAL GENOMES

KW - NATURAL HYBRIDIZATION

KW - PRIMATES

KW - INSERTIONS

KW - ORIGIN

KW - EVOLUTION

KW - WITNESSES

KW - BIRDS

KW - DNA, Mitochondrial/genetics

KW - Humans

KW - Pseudogenes

KW - Recombination, Genetic

KW - Genetic Speciation

KW - Genome, Human

KW - Evolution, Molecular

UR - http://www.scopus.com/inward/record.url?scp=85008485819&partnerID=8YFLogxK

U2 - 10.1016/j.mito.2016.12.001

DO - 10.1016/j.mito.2016.12.001

M3 - Short survey

C2 - 27979772

AN - SCOPUS:85008485819

VL - 34

SP - 20

EP - 23

JO - Mitochondrion

JF - Mitochondrion

SN - 1567-7249

ER -