Numt, a Recent Transfer and Tandem Amplification of Mitochondrial DNA in the Nuclear Genome of the Domestic Cat

Authors

• Jose V. Lopez, National Cancer Institute - FrederickFollow
• Naoya Yuhki, National Cancer Institute - Frederick
• Ryuichi Masuda, National Cancer Institute - Frederick
• William Modi, National Cancer Institute - Frederick; George Mason University
• Stephen James O'Brien, National Cancer Institute - FrederickFollow

ORCID

0000-0002-1637-4125, 0000-0001-7353-8301

ResearcherID

F-8809-2011, N-1726-2015

Document Type

Article

Publication Title

Journal of Molecular Evolution

ISSN

1432-1432

Publication Date

8-1994

Keywords

Mitochondrial DNA, Transposition, Amplification, d(CA)-rich repeats, Pseudogenes

Abstract

The mitochondrial DNA of plant and animal cells is a transcriptionally active genome that traces its origins to a symbiotic infection of eucaryotic cells by bacterial progenitors. As prescribed by the Serial Endosymbiosis Theory, symbiotic organelles have gradually transferred their genes to the eucaryotic genome, producing a functional interaction of nuclear and mitochondrial genes in organelle function. We report here a recent remarkable transposition of 7.9 kb of a typically 17.0-kb mitochondrial genome to a specific nuclear chromosomal position in the domestic cat. The integrated segment has subsequently become amplified 38–76 times and now occurs as a tandem repeat macrosatellite with multiple-length alleles resolved by pulse-field gel electrophoresis (PFGE) segregating in cat populations. Sequence determination of the nuclear mitochondrial DNA segment, Numt, revealed a d(CA)-rich 8-bp motif [ACACACGT] repeated imperfectly five times at the deletion junction that is a likely target for recombination. The extent and pattern of sequence divergence of Numt genes from the cytoplasmic mtDNA homologues plus the occurrence of Numt in other species of the family Felidae allowed an estimate for the origins of Numt at 1.8–2.0 million years ago in an ancestor of four modern species in the genus Felis. Numt genes do not function in cats; rather, the locus combines properties of nuclear minisatellites and pseudogenes. These observations provide an empirical glimpse of historic genomic events that may parallel the accommodation of organelles in eucaryotes.

DOI

10.1007/BF00163806

Volume

39

Issue

2

First Page

174

Last Page

190

Comments

©Springer-Verlag New York Inc 1994

NSUWorks Citation

Lopez, Jose V.; Naoya Yuhki; Ryuichi Masuda; William Modi; and Stephen James O'Brien. 1994. "Numt, a Recent Transfer and Tandem Amplification of Mitochondrial DNA in the Nuclear Genome of the Domestic Cat." Journal of Molecular Evolution 39, (2): 174-190. doi:10.1007/BF00163806.