Mitochondrial introgressions into the nuclear genome of the domestic cat.

Translocation of mtDNA into the nuclear genome, also referred to as numt, was first reported in the domestic cat (Felis catus) by Lopez et al. (1994). The Lopez-numt consisted of a translocation of 7.9 kbp of mtDNA that inserted into the domestic cat chromosome D2 around 1.8 million years ago. More than a decade later, the release of the domestic cat whole-genome shotgun sequences (1.9x coverage) provides the resource to obtain more comprehensive insight into the extent of mtDNA transfer over time in the domestic cat genome. MegaBLAST searches revealed that the cat genome harbors a wide variety of numts (298 320 bp), one-third of which likely correspond to the Lopez-numt tandem repeat, whereas the remaining numts are probably derived from multiple independent insertions, which in some cases were followed by segmental duplication after insertion in the nucleus. Numts were detected across most cat chromosomes, but the number of numts assigned to chromosomes is underestimated due to the relatively high number of numt sequences with insufficient flanking sequence to map. The catalog of cat numts provides a valuable resource for future studies in Felidae species, including its use as a tool to avoid numt contaminations that may confound population genetics and phylogenetic studies.

[1]  Jean L. Chang,et al.  Initial sequence and comparative analysis of the cat genome. , 2007, Genome research.

[2]  M. Bruford,et al.  Distinguishing gorilla mitochondrial sequences from nuclear integrations and PCR recombinants: guidelines for their diagnosis in complex sequence databases. , 2007, Molecular phylogenetics and evolution.

[3]  Eric S. Lander,et al.  Genetic evidence for complex speciation of humans and chimpanzees , 2006, Nature.

[4]  S. O’Brien,et al.  Evolutionary analysis of a large mtDNA translocation (numt) into the nuclear genome of the Panthera genus species. , 2006, Gene.

[5]  Agostinho Antunes,et al.  The Late Miocene Radiation of Modern Felidae: A Genetic Assessment , 2006, Science.

[6]  J. Schmitz,et al.  Forty Million Years of Independent Evolution: A Mitochondrial Gene and Its Corresponding Nuclear Pseudogene in Primates , 2005, Journal of Molecular Evolution.

[7]  R. Schiffmann,et al.  Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV , 2004, Human mutation.

[8]  Fredj Tekaia,et al.  Continued Colonization of the Human Genome by Mitochondrial DNA , 2004, PLoS biology.

[9]  A. Baker,et al.  Low number of mitochondrial pseudogenes in the chicken (Gallus gallus) nuclear genome: implications for molecular inference of population history and phylogenetics , 2004, BMC Evolutionary Biology.

[10]  Dario Leister,et al.  NUMTs in sequenced eukaryotic genomes. , 2004, Molecular biology and evolution.

[11]  Eduardo Ruiz-Pesini,et al.  Mitochondrial DNA‐like sequences in the nucleus (NUMTs): Insights into our African origins and the mechanism of foreign DNA integration , 2004, Human mutation.

[12]  S. Pääbo,et al.  Unreliable mtDNA data due to nuclear insertions: a cautionary tale from analysis of humans and other great apes , 2004, Molecular ecology.

[13]  R. Sorek,et al.  Evolutionary Dynamics of Large Numts in the Human Genome: Rarity of Independent Insertions and Abundance of Post-Insertion Duplications , 2003, Journal of Molecular Evolution.

[14]  D. Cooper,et al.  Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer , 2003, Human Genetics.

[15]  Philippe Dessen,et al.  Structure and chromosomal distribution of human mitochondrial pseudogenes. , 2002, Genomics.

[16]  M. Woischnik,et al.  Pattern of organization of human mitochondrial pseudogenes in the nuclear genome. , 2002, Genome research.

[17]  Sudhir Kumar,et al.  MEGA2: molecular evolutionary genetics analysis software , 2001, Bioinform..

[18]  P. Arctander,et al.  The Human Genome Project reveals a continuous transfer of large mitochondrial fragments to the nucleus. , 2001, Molecular biology and evolution.

[19]  B. Baysal,et al.  Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation , 2001, Human Genetics.

[20]  D. Hartl,et al.  Mitochondrial pseudogenes: evolution's misplaced witnesses. , 2001, Trends in ecology & evolution.

[21]  Lukas Wagner,et al.  A Greedy Algorithm for Aligning DNA Sequences , 2000, J. Comput. Biol..

[22]  J. Thompson,et al.  The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. , 1997, Nucleic acids research.

[23]  J. V. López,et al.  Rates of nuclear and cytoplasmic mitochondrial DNA sequence divergence in mammals. , 1997, Molecular biology and evolution.

[24]  D. -. Zhang,et al.  Nuclear integrations: challenges for mitochondrial DNA markers. , 1996, Trends in ecology & evolution.

[25]  J. V. López,et al.  Complete nucleotide sequences of the domestic cat (Felis catus) mitochondrial genome and a transposed mtDNA tandem repeat (Numt) in the nuclear genome. , 1996, Genomics.

[26]  D. -. Zhang,et al.  Highly conserved nuclear copies of the mitochondrial control region in the desert locust Schistocerca gregaria: some implications for population studies , 1996, Molecular ecology.

[27]  N. Perna,et al.  Mitochondrial DNA: Molecular fossils in the nucleus , 1996, Current Biology.

[28]  C. Stewart,et al.  Insertions and duplications of mtDNA in the nuclear genomes of Old World monkeys and hominoids , 1995, Nature.

[29]  P. Arctander,et al.  Comparison of a mitochondrial gene and a corresponding nuclear pseudogene , 1995, Proceedings of the Royal Society of London. Series B: Biological Sciences.

[30]  E. Eriksson,et al.  Gene Transfer , 1995, Annals of plastic surgery.

[31]  C. Kuiken,et al.  Nuclear counterparts of the cytoplasmic mitochondrial 12S rRNA gene: A problem of ancient DNA and molecular phylogenies , 1995, Journal of Molecular Evolution.

[32]  Jose V. Lopez,et al.  Numt, a recent transfer and tandem amplification of mitochondrial DNA to the nuclear genome of the domestic cat , 1994, Journal of Molecular Evolution.

[33]  D. Labie,et al.  Molecular Evolution , 1991, Nature.

[34]  M. Nei,et al.  Pseudogenes as a paradigm of neutral evolution , 1981, Nature.

[35]  Dan Graur,et al.  A comparative analysis of numt evolution in human and chimpanzee. , 2007, Molecular biology and evolution.

[36]  H. Kishino,et al.  Dating of the human-ape splitting by a molecular clock of mitochondrial DNA , 2005, Journal of Molecular Evolution.

[37]  M. Feldman,et al.  Rates of DNA Duplication and Mitochondrial DNA Insertion in the Human Genome , 2004, Journal of Molecular Evolution.

[38]  G. Gellissen,et al.  Gene transfer. Mitochondria to nucleus. , 1987, Annals of the New York Academy of Sciences.