List A set of 3 mtDNA sequences has appeared on the GenBank database to accompany the paper: 'A missense MT-ND5 mutation in differentiated Parkinson Disease cytoplasmic hybrid induces ROS-dependent DNA Damage Response amplified by DROSHA' Daniela Pignataro, et al. A free download at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573376/ and the abstract is given below. This paper is really quite technical - but nevertheless the sequences are quite interesting and belong to Haplogroups H1a3b, H3b1b1, & L3e1a. The main point of the paper is the significance of the mutation 'G13804R' in the 'H1a3b' sequence. Whereas, the 'L2e1a' is perhaps the more interesting sequence from a phylogenetic point of view - as the subgroup is uncommon. As usual I have added the sequences to my 'Checker' program to ensure accuracy of transcription. Ian www.ianlogan.co.uk ------------------------------------------- Abstract Genome integrity is continuously threatened by endogenous sources of DNA damage including reactive oxygen species (ROS) produced by cell metabolism. Factors of the RNA interference (RNAi) machinery have been recently involved in the cellular response to DNA damage (DDR) in proliferating cells. To investigate the impact of component of RNAi machinery on DDR activation in terminally differentiated cells, we exploited cytoplasmic hybrid (cybrid) cell lines in which mitochondria of sporadic Parkinson’s disease patients repopulate neuroblastoma SH-SY5Y-Rho(0) cells. Upon differentiation into dopaminergic neuron-like cells, PD63 cybrid showed increased intracellular level of ROS and chronic DDR activation, compared to other cybrids with the same nuclear background. Importantly, DDR activation in these cells can be prevented by ROS scavenging treatment suggesting that ROS production is indeed causative of nuclear DNA damage. Sequence analysis of the mitogenomes identified a rare and heteroplasmic missense mutation affecting a highly conserved residue of the ND5-subunit of respiratory complex I, which accounts for ROS increase. We demonstrated that the assembly of nuclear DDR foci elicited by oxidative stress in these cells relies on DROSHA, providing the first evidence that components of RNAi machinery play a crucial role also in the mounting of ROS-induced DDR in non-replicating neuronal cells. ----------------------------------------- KY498629(Italy-cybrid) Pignataro Haplogroup L2e1a 12-SEP-2107 A73G T146C C150T T152C C182T A183G A263G 309.1C 315.1C A479G G719A A750G G769A C954T G1018A A1171R G1211A A1438G T2416C A2706G A3537G C3594T C4086T A4104G A4562G A4769G A5069T T6014C C6617T C7028T C7256T G7521A T8383C A8701G A8860G G8994A A9221G A9377G T9540C C9971T T10115C A10398G T10873C G11149A G11719A T11935C A11989G T12189C G12236A C12705T G13194A G13590A C13650T G13708A C14266T T14299C C14766T G15301A A15326G T15697C G15734A T15889C C16111T G16145A C16184T T16189C C16223T C16239T C16278T C16292T C16355T G16390A A16399G C16400T T16519C KY498630(Italy-cybrid) Pignataro Haplogroup H1a3b 12-SEP-2107 A73G T195C A263G 315.1C C522- A523- A750G A1438G G3010A A4769G A8860G G13804R A15326G A16051G A16162G A16241C C16465T T16519C KY498631(Italy-cybrid) Pignataro Haplogroup H3b1b1 12-SEP-2107 T146C A153G A263G 309.1C 309.2C 315.1C A750G A1438G A2581G A4769G G5147A T6776C A7403G A8860G G13813A A15326G C16111T G16129A C16256T T16519C