Premium
A novel 154‐bp deletion in the human mitochondrial DNA control region in healthy individuals
Author(s) -
Behar Doron M.,
BlueSmith Jason,
SoriaHernanz David F.,
Tzur Shay,
Hadid Yarin,
Bormans Concetta,
Moen Alexander,
TylerSmith Chris,
QuintanaMurci Lluis,
Wells R. Spencer
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20835
Subject(s) - mitochondrial dna , biology , mtdna control region , genetics , hum , population , genome , dna replication , dna , gene , genotype , haplotype , demography , art , sociology , performance art , art history
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. Hum Mutat 0,1–5, 2008. © 2008 Wiley‐Liss, Inc.