A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
The biological role of the mitochondrial DNA (mtDNA) control region in mtDNA replication remains unclear. In a worldwide survey of mtDNA variation in the general population, we have identified a novel large control region deletion spanning positions 16154 to 16307 (m.16154_16307del154). The population prevalence of this deletion is low, since it was only observed in 1 out of over 120,000 mtDNA genomes studied. The deletion is present in a nonheteroplasmic state, and was transmitted by a mother to her two sons with no apparent past or present disease conditions. The identification of this large deletion in healthy individuals challenges the current view of the control region as playing a crucial role in the regulation of mtDNA replication, and supports the existence of a more complex system of multiple or epigenetically-determined replication origins.
Behar
Doron M
DM
Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel. GenoPubs@ngs.org
Blue-Smith
Jason
J
Soria-Hernanz
David F
DF
Tzur
Shay
S
Hadid
Yarin
Y
Bormans
Concetta
C
Moen
Alexander
A
Tyler-Smith
Chris
C
Quintana-Murci
Lluis
L
Wells
R Spencer
RS
D001483:Base Sequence; D004252:DNA Mutational Analysis; D004261:DNA Replication; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D019901:Locus Control Region; D008297:Male; D008928:Mitochondria / Q000235:genetics; D008969:Molecular Sequence Data; D017384:Sequence Deletion
D004272:DNA, Mitochondrial