A Novel 154-bp Deletion in the Human Mitochondrial DNA Control Region in Healthy Individuals

被引：10

作者：

Behar, Doron M. ^{[1
]}

Blue-Smith, Jason ^{[2
]}

Soria-Hernanz, David E. ^{[2
]}

Tzur, Shay ^{[1
]}

Hadid, Yarin ^{[1
]}

Bormans, Concetta ^{[3
]}

Moen, Alexander ^{[2
]}

Tyler-Smith, Chris ^{[4
]}

Quintana-Murci, Lluis ^{[5
]}

Wells, R. Spencer ^{[2
]}

机构：

[1] Mol Med Lab, IL-31096 Haifa, Israel

[2] Inst Geog Soc, Miss Programs, Washington, DC USA

[3] Family Tree DNA, Genom Res Ctr, Houston, TX USA

[4] Wellcome Trust Sanger Inst, Hinxton, England

[5] Inst Pasteur, CNRS, URA3012, Unit Human Evolutionary Genet, Paris, France

来源：

HUMAN MUTATION | 2008年 / 29卷 / 12期

基金：

英国惠康基金;

关键词：

mitochondrial DNA; mtDNA; control region; replication;

D O I：

10.1002/humu.20835

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 29(12), 1387-1391, 2008. (C) 2008 Wiley-Liss, Inc.

引用

页码：1387 / 1391

页数：5

共 27 条

[1] The replicon revisited: an old model learns new tricks in metazoan chromosomes [J].