A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

Doron M. Behar; Jason Blue-Smith; David F. Soria-Hernanz; Shay Tzur; Yarin Hadid; Concetta Bormans; Alexander Moen; Chris Tyler-Smith; Lluis Quintana-Murci; R. Spencer Wells; Theodore G. Schurr; Fabricio R. Santos; Jaume Bertranpetit; David Comas; Elena Balanovska; Oleg Balanovsky; R. John Mitchell; Li Jin; Himla Soodyall; Ramasamy Pitchappan; Alan Cooper; Ajay K. Royyuru; Saharon Rosset; Laxmi Parida; David Soria Hernanz

doi:10.1002/humu.20835

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

Doron M. Behar, Jason Blue-Smith, David F. Soria-Hernanz, Shay Tzur, Yarin Hadid, Concetta Bormans, Alexander Moen, Chris Tyler-Smith, Lluis Quintana-Murci, R. Spencer Wells, Theodore G. Schurr, Fabricio R. Santos, Jaume Bertranpetit, David Comas, Elena Balanovska, Oleg Balanovsky, R. John Mitchell, Li Jin, Himla Soodyall, Ramasamy PitchappanAlan Cooper, Ajay K. Royyuru, Saharon Rosset, Laxmi Parida, David Soria Hernanz

School of Mathematical Sciences

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	1387-1391
Number of pages	5
Journal	Human Mutation
Volume	29
Issue number	12
DOIs	https://doi.org/10.1002/humu.20835
State	Published - Dec 2008

Keywords

Control region
Mitochondrial DNA
Replication
mtDNA

Access to Document

10.1002/humu.20835

Cite this

Behar, D. M., Blue-Smith, J., Soria-Hernanz, D. F., Tzur, S., Hadid, Y., Bormans, C., Moen, A., Tyler-Smith, C., Quintana-Murci, L., Wells, R. S., Schurr, T. G., Santos, F. R., Bertranpetit, J., Comas, D., Balanovska, E., Balanovsky, O., Mitchell, R. J., Jin, L., Soodyall, H., ... Hernanz, D. S. (2008). A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals. Human Mutation, 29(12), 1387-1391. https://doi.org/10.1002/humu.20835

@article{ad89f98a98da4348b4992d86d44d50d8,

title = "A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals",

abstract = "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.",

keywords = "Control region, Mitochondrial DNA, Replication, mtDNA",

author = "Behar, {Doron M.} and Jason Blue-Smith and Soria-Hernanz, {David F.} and Shay Tzur and Yarin Hadid and Concetta Bormans and Alexander Moen and Chris Tyler-Smith and Lluis Quintana-Murci and Wells, {R. Spencer} and Schurr, {Theodore G.} and Santos, {Fabricio R.} and Jaume Bertranpetit and David Comas and Elena Balanovska and Oleg Balanovsky and Mitchell, {R. John} and Li Jin and Himla Soodyall and Ramasamy Pitchappan and Alan Cooper and Royyuru, {Ajay K.} and Saharon Rosset and Laxmi Parida and Hernanz, {David Soria}",

year = "2008",

month = dec,

doi = "10.1002/humu.20835",

language = "אנגלית",

volume = "29",

pages = "1387--1391",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "12",

}

Behar, DM, Blue-Smith, J, Soria-Hernanz, DF, Tzur, S, Hadid, Y, Bormans, C, Moen, A, Tyler-Smith, C, Quintana-Murci, L, Wells, RS, Schurr, TG, Santos, FR, Bertranpetit, J, Comas, D, Balanovska, E, Balanovsky, O, Mitchell, RJ, Jin, L, Soodyall, H, Pitchappan, R, Cooper, A, Royyuru, AK, Rosset, S, Parida, L & Hernanz, DS 2008, 'A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals', Human Mutation, vol. 29, no. 12, pp. 1387-1391. https://doi.org/10.1002/humu.20835

TY - JOUR

T1 - A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

AU - Behar, Doron M.

AU - Blue-Smith, Jason

AU - Soria-Hernanz, David F.

AU - Tzur, Shay

AU - Hadid, Yarin

AU - Bormans, Concetta

AU - Moen, Alexander

AU - Tyler-Smith, Chris

AU - Quintana-Murci, Lluis

AU - Wells, R. Spencer

AU - Schurr, Theodore G.

AU - Santos, Fabricio R.

AU - Bertranpetit, Jaume

AU - Comas, David

AU - Balanovska, Elena

AU - Balanovsky, Oleg

AU - Mitchell, R. John

AU - Jin, Li

AU - Soodyall, Himla

AU - Pitchappan, Ramasamy

AU - Cooper, Alan

AU - Royyuru, Ajay K.

AU - Rosset, Saharon

AU - Parida, Laxmi

AU - Hernanz, David Soria

PY - 2008/12

Y1 - 2008/12

N2 - 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.

AB - 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.

KW - Control region

KW - Mitochondrial DNA

KW - Replication

KW - mtDNA

UR - http://www.scopus.com/inward/record.url?scp=57149108704&partnerID=8YFLogxK

U2 - 10.1002/humu.20835

DO - 10.1002/humu.20835

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

AN - SCOPUS:57149108704

SN - 1059-7794

VL - 29

SP - 1387

EP - 1391

JO - Human Mutation

JF - Human Mutation

IS - 12

ER -

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this