期刊
GENOME RESEARCH
卷 12, 期 6, 页码 885-893出版社
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gr.227202
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资金
- NIGMS NIH HHS [R01 GM055766, GM 55766] Funding Source: Medline
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 germiline, sperm mtDNA, which is released from degenerating mitochondria after fertilization, Could be an important source of nuclear mtDNA pseudogenes.
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