Molecular Biology and Evolution 18:1833-1837 (2001)
© 2001 Society for Molecular Biology and Evolution
The Human Genome Project Reveals a Continuous Transfer of Large Mitochondrial Fragments to the Nucleus
Department of Evolutionary Biology, Zoological Institute, University of Copenhagen, Copenhagen, Denmark
Mitochondrial genomes are believed to gradually transfer DNA fragments (numts) into the nuclear chromosomes of eukaryotic cells during evolution (reviewed in Zhang and Hewitt 1996
). This assumption relies on hybridization studies of mitochondrial DNA sequences (mtDNA) (Tsuzuki et al. 1983
), sequencing of numts (e.g., Lopez et al. 1994
; Arctander 1995
; Zischler et al. 1995
; Herrnstadt et al. 1999
), and similarity searches in sequence databases (Blanchard and Schmidt 1996
; Bensasson et al. 2001
). Here we present the first extensive analysis of numts in the human nuclear genome. Through a combination of conventional BLAST alignment (Altschul et al. 1997
) and a DNA block aligning (DBA) algorithm (Jareborg, Birney, and Durbin 1999
), we searched roughly 93.5% of the human genome (http://www.ncbi.nlm.nih.gov/genome/seq/) for numts. This approach revealed three notable findings. First, several numts
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