When I had worked on my MSc thesis in biology on the relation of human mitochondrial mutations and aging the paper I used most frequently was Sequence and organization of the human mitochondrial genome by Anderson et al. published in Nature, 1981. The reason was simple: it is more of a database than a hypothesis driven article with the published 16.569 base pair sequence of the circular human mitochondrial genome (L-strand) containing 37 genes and a bigger non-coding, regulatory region. Throughout my work I had to use it as a basic reference. The sequence is a reconstruction of a single European individual’s mtDNA and contains several rare alleles. Nice figure isn’t it?
It was once modified and corrected by Andrews et al in Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA in 1999 so today it is called the Revised Cambridge Reference Sequence and are used by mitochondriologists worldwide.
I’ve just realized with the help of genomics pioneer and warrior Craig Venter’s recent molecular autobiography Life decoded, that the brilliant two time Nobel laureate, sequencing urfather Frederick Sanger is also a coauthor of the paper. Here comes Venter:
“Sanger awed an audience with his first partial DNA sequence in May 1975and went on to deliver the first complete sequence of a viral genome: the 5375 base pairs in the genetic code of a bacterial virus (phage) called phi-X174. Sanger then sequenced the 17 000 or so base base pairs of DNA in the human mitochondrial genome (the energy factory found in our cells), marking the first human genome project.”
Last year during my 3 month short scholarship in Cambridge I happened to see the house of Sanger in Cambridgeshire or at least I was informed so by my young professor there who lived just a couple of nice old houses away.