Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA

Eduardo Ruiz-Pesini; Dan Mishmar; Martin Brandon; Vincent Procaccio; Douglas C. Wallace

doi:10.1126/science.1088434

Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA

Eduardo Ruiz-Pesini, Dan Mishmar, Martin Brandon, Vincent Procaccio, Douglas C. Wallace

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

683 Scopus citations

Abstract

A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today.

Original language	English
Pages (from-to)	223-226
Number of pages	4
Journal	Science
Volume	303
Issue number	5655
DOIs	https://doi.org/10.1126/science.1088434
State	Published - 9 Jan 2004
Externally published	Yes

ASJC Scopus subject areas

General

Access to Document

10.1126/science.1088434

Cite this

@article{d2041eff54a84599835cdb1c62cdb43a,

title = "Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA",

abstract = "A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today.",

author = "Eduardo Ruiz-Pesini and Dan Mishmar and Martin Brandon and Vincent Procaccio and Wallace, {Douglas C.}",

year = "2004",

month = jan,

day = "9",

doi = "10.1126/science.1088434",

language = "English",

volume = "303",

pages = "223--226",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "5655",

}

TY - JOUR

T1 - Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA

AU - Ruiz-Pesini, Eduardo

AU - Mishmar, Dan

AU - Brandon, Martin

AU - Procaccio, Vincent

AU - Wallace, Douglas C.

PY - 2004/1/9

Y1 - 2004/1/9

N2 - A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today.

AB - A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today.

UR - http://www.scopus.com/inward/record.url?scp=0347356538&partnerID=8YFLogxK

U2 - 10.1126/science.1088434

DO - 10.1126/science.1088434

M3 - Article

C2 - 14716012

AN - SCOPUS:0347356538

SN - 0036-8075

VL - 303

SP - 223

EP - 226

JO - Science

JF - Science

IS - 5655

ER -

Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this