Site 73 in hypervariable region II of the human mitochondrial genome and the origin of European populations

H. M. Wilkinson-Herbots, M. B. Richards, P. Forster, B. C. Sykes

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

The majority of published human mitochondrial DNA sequence data are confined to hypervariable region I in the control region. By contrast, this paper focusses on a nucleotide site in hypervariable region II. Unlike most non-European populations whose mtDNA sequences have been studied in the literature, the British 'white Caucasian' population has a high level of variation at site 73 (following the site numbering by Anderson et al.) This variation appears to have its origin largely in a mutation from guanine to adenine at that site with an estimated minimum age between 15,000 and 25,000 years. The data of Piercy et al. suggest that roughly half of the British 'white Caucasian' mitochondrial gene pool is descended from a common maternal ancestor who carried this mutation at site 73. This site also plays a central role in distinguishing the five major European mtDNA clusters identified in Richards et al. We suggest that the lineages carrying an A at site 73, together with some other lineages, may have their origins in a small founder population which expanded after the last glacial maximum about 20,000 years ago. We conclude that, in addition to region I sequences, site 73 is worth determining in studies of Caucasian populations.

Original languageEnglish
Pages (from-to)499-508
Number of pages10
JournalAnnals of Human Genetics
Volume60
Issue number6
DOIs
Publication statusPublished - Nov 1996
Externally publishedYes

Fingerprint

Mitochondrial Genome
Human Genome
Mitochondrial DNA
Population
Gene Pool
Mutation
Mitochondrial Genes
Guanine
Adenine
Nucleotides
Mothers

Cite this

@article{fc1658cf33f04fe0949447b325954043,
title = "Site 73 in hypervariable region II of the human mitochondrial genome and the origin of European populations",
abstract = "The majority of published human mitochondrial DNA sequence data are confined to hypervariable region I in the control region. By contrast, this paper focusses on a nucleotide site in hypervariable region II. Unlike most non-European populations whose mtDNA sequences have been studied in the literature, the British 'white Caucasian' population has a high level of variation at site 73 (following the site numbering by Anderson et al.) This variation appears to have its origin largely in a mutation from guanine to adenine at that site with an estimated minimum age between 15,000 and 25,000 years. The data of Piercy et al. suggest that roughly half of the British 'white Caucasian' mitochondrial gene pool is descended from a common maternal ancestor who carried this mutation at site 73. This site also plays a central role in distinguishing the five major European mtDNA clusters identified in Richards et al. We suggest that the lineages carrying an A at site 73, together with some other lineages, may have their origins in a small founder population which expanded after the last glacial maximum about 20,000 years ago. We conclude that, in addition to region I sequences, site 73 is worth determining in studies of Caucasian populations.",
author = "Wilkinson-Herbots, {H. M.} and Richards, {M. B.} and P. Forster and Sykes, {B. C.}",
year = "1996",
month = "11",
doi = "10.1111/j.1469-1809.1996.tb01616.x",
language = "English",
volume = "60",
pages = "499--508",
journal = "Annals of Human Genetics",
issn = "0003-4800",
publisher = "Wiley-Blackwell",
number = "6",

}

Site 73 in hypervariable region II of the human mitochondrial genome and the origin of European populations. / Wilkinson-Herbots, H. M.; Richards, M. B.; Forster, P.; Sykes, B. C.

In: Annals of Human Genetics, Vol. 60, No. 6, 11.1996, p. 499-508.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Site 73 in hypervariable region II of the human mitochondrial genome and the origin of European populations

AU - Wilkinson-Herbots, H. M.

AU - Richards, M. B.

AU - Forster, P.

AU - Sykes, B. C.

PY - 1996/11

Y1 - 1996/11

N2 - The majority of published human mitochondrial DNA sequence data are confined to hypervariable region I in the control region. By contrast, this paper focusses on a nucleotide site in hypervariable region II. Unlike most non-European populations whose mtDNA sequences have been studied in the literature, the British 'white Caucasian' population has a high level of variation at site 73 (following the site numbering by Anderson et al.) This variation appears to have its origin largely in a mutation from guanine to adenine at that site with an estimated minimum age between 15,000 and 25,000 years. The data of Piercy et al. suggest that roughly half of the British 'white Caucasian' mitochondrial gene pool is descended from a common maternal ancestor who carried this mutation at site 73. This site also plays a central role in distinguishing the five major European mtDNA clusters identified in Richards et al. We suggest that the lineages carrying an A at site 73, together with some other lineages, may have their origins in a small founder population which expanded after the last glacial maximum about 20,000 years ago. We conclude that, in addition to region I sequences, site 73 is worth determining in studies of Caucasian populations.

AB - The majority of published human mitochondrial DNA sequence data are confined to hypervariable region I in the control region. By contrast, this paper focusses on a nucleotide site in hypervariable region II. Unlike most non-European populations whose mtDNA sequences have been studied in the literature, the British 'white Caucasian' population has a high level of variation at site 73 (following the site numbering by Anderson et al.) This variation appears to have its origin largely in a mutation from guanine to adenine at that site with an estimated minimum age between 15,000 and 25,000 years. The data of Piercy et al. suggest that roughly half of the British 'white Caucasian' mitochondrial gene pool is descended from a common maternal ancestor who carried this mutation at site 73. This site also plays a central role in distinguishing the five major European mtDNA clusters identified in Richards et al. We suggest that the lineages carrying an A at site 73, together with some other lineages, may have their origins in a small founder population which expanded after the last glacial maximum about 20,000 years ago. We conclude that, in addition to region I sequences, site 73 is worth determining in studies of Caucasian populations.

UR - http://www.scopus.com/inward/record.url?scp=0030455926&partnerID=8YFLogxK

U2 - 10.1111/j.1469-1809.1996.tb01616.x

DO - 10.1111/j.1469-1809.1996.tb01616.x

M3 - Article

VL - 60

SP - 499

EP - 508

JO - Annals of Human Genetics

JF - Annals of Human Genetics

SN - 0003-4800

IS - 6

ER -