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Human mt DNA is maternally inherited and forms a circle of double-stranded DNA with 16 569 nucleotide pairs.

The non-coding mt-Dloop (also called the control region) contains 1121 nucleotides important for replication and transcription.

Fossil evidence is consistent with these gene-based estimates.These findings represent a paradigm shift in our concepts of mt-nuclear interactions.To whom correspondence should be addressed at: Gavin Herbert Eye Institute, Discovery Center for Eye Research, University of California Irvine, Hewitt Hall, Room 2028, 843 Health Science Road, Irvine, CA 92697, USA.J and H cybrids have significantly altered expression of eight nuclear genes of the alternative complement, inflammation and apoptosis pathways.Sequencing of the entire mt DNA was carried out for all the cybrids to identify haplogroup and non-haplogroup defining SNPs.

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J haplogroup has been associated with high risk for AMD while the H haplogroup is protective.