Published online before print
May 16, 2002, 10.1101/gr.227202. Article published online before print in May 2002
Vol. 12, Issue 6, 885-893, June 2002
Pattern of Organization of Human Mitochondrial Pseudogenes in the Nuclear Genome
Markus
Woischnik, and
Carlos T.
Moraes1
Department of Neurology, University of Miami-School of Medicine,
Miami, Florida 33136, USA
Mitochondrial pseudogenes in the human nuclear genome
have been previously described, mostly as a source of artifacts during the analysis of the mitochondrial genome. With the availability of the
complete human genome sequence, we performed a comprehensive analysis
of mtDNA insertions into the nucleus. We found 612 independent integrations that are evenly distributed among all chromosomes as well
as within each individual chromosome. The identified pseudogenes account for a content of at least 0.016% of the human nuclear DNA. Up
to 30% of a chromosome's mtDNA pseudogene content is composed of
fragments that encompass two or more adjacent mitochondrial genes, and
we found no correlation between the abundance of mitochondrial transcripts and the multiplicity of integrations. These observations indicate that the migrations of mitochondrial DNA sequences to the
nucleus were predominantly DNA mediated. Phylogenetic analysis of the
mtDNA pseudogenes and mtDNA sequences of primates indicate a continuous
transfer into the nucleus. Because of the limited window of opportunity
for mtDNA transfer to the germline, sperm mtDNA, which is released from
degenerating mitochondria after fertilization, could be an important
source of nuclear mtDNA pseudogenes.
[Online supplemental
material available at http://www.genome.org]
1
Corresponding author.
12:885-893 ©2002 by Cold Spring Harbor Laboratory Press ISSN 1088-9051/02 $5.00

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