Using archaeogenetics to understand human history and ancestry
Submitting Institution
University of HuddersfieldUnit of Assessment
Biological SciencesSummary Impact Type
CulturalResearch Subject Area(s)
Medical and Health Sciences: Public Health and Health Services
Studies In Human Society: Anthropology
History and Archaeology: Archaeology
Summary of the impact
Work by the University of Huddersfield's Archaeogenetics Research Group
has been at the
forefront of developing mitochondrial DNA as a tool for reconstructing the
dispersal history of
mankind, from a new model of the expansion of modern humans out of Africa
to re-evaluations of
the settlement history of Europe, Asia and the Pacific. Pivotal in the
emergence of commercial
genetic ancestry testing, this work generates immense public interest and
creates many
opportunities for broad engagement. It has provided an expert basis for TV
and radio programmes,
featured widely in the mainstream press and helped the Human Genetics
Commission formulate
guidelines for the genetic ancestry testing industry.
Underpinning research
Archaeogenetics uses genetic evidence to address questions about
evolution, archaeology, history
and other elements of the human past. The University of Huddersfield's
Archaeogenetics Research
Group, based within the Department of Biological Sciences, has played a
leading role in using the
non-recombining genetic marker systems — especially mitochondrial DNA
(mtDNA), but also the Y
chromosome — to trace the female and male lines of descent and make
inferences from the
distributions and diversity of genealogical lineages about settlement
patterns and population
dispersals. This work, which concerns humans in the main but also
domesticates and
commensals, is a subject of major public interest.
The Head of the Archaeogenetics Research Group, Professor Martin B.
Richards (Senior Lecturer,
University of Huddersfield, 2000-2004; Senior Lecturer and Professor of
Archaeogenetics,
University of Leeds, 2004-2011; Professor of Archaeogenetics, University
of Huddersfield, 2012-),
and his colleague, Dr Dougie Clarke (Senior Lecturer, University of
Huddersfield, 1998-2006;
Head of Biological Sciences, University of Huddersfield, 2006-), have been
at the forefront of the
ongoing process of establishing and developing archaeogenetic
methodologies. These have been
applied to many of the "big questions" about human history, such as the
settlement of the world,
the spread of farming and the impact of climate change. In each area
Huddersfield has significantly
reshaped the debate and thereby informed public understanding.
The novel phylogenetic methodologies that have emerged from this work
have allowed
researchers in the Archaeogenetics Research Group and their colleagues to
elucidate in detail the
mtDNA tree and the definition of its lineages or haplogroups. These form
the basis for all
subsequent discussion, including the commercial tests provided for the
public by the genetic
ancestry industry — particularly since the research initially focused on
short control-region
sequences, which were also targeted by the testing companies. In addition,
new phylogeographic
methodologies have made possible the interpretation of the data and
allowed the research to
contribute to — and in several cases revolutionise — debates concerning
some of the major topics
surrounding human evolution.
For example, by showing that European genetic patterns were shaped mainly
by climate change at
the end of the last Ice Age [2,3], these studies challenged the
established view that European
ancestry traces primarily to the Neolithic. They have also shown that the
consensus "out of
Taiwan" model for the origins of island Southeast Asians and Pacific
Islanders is incorrect, with
major dispersals again in the wake of the Ice Age, reaching New Guinea by
about 6,000 years ago
[4]. Furthermore, the research has laid the ground for the study of
African mtDNA variation,
identifying markers tracing the Bantu expansion into southern Africa and
again identifying earlier
(especially postglacial) processes [5].
Perhaps most significantly, this work has proposed a new model for the
dispersal of modern
humans out of Africa. It suggests there was a single expansion along the
southern coast of Asia
around 60,000 years ago, so refuting both a single route through northeast
Africa and the Levant
and the possibility of multiple dispersals [1,6]. This model has become
widely recognised as the
consensus since its publication in 2005.
References to the research
Publications (Huddersfield academics in bold):
1. Macaulay, V, Hill, C, Achilli, A, Rengo, C, Clarke, D,
Meehan, W, Blackburn, J, Semino,
O, Cruciani, F, Scozzari, R, Taha A, Shaari, NK, Raja, JM, Ismail, P,
Zainuddin, Z,
Goodwin, W, Bulbeck, D, Bandelt, H-J, Oppenheimer, S, Torroni, A, Richards,
M (2005):
Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete
Mitochondrial
Genomes, Science, 1034-1036. doi: 10.1126/science.1109792 (Scopus
25/11/13 = 310)
[work carried out as Hill's studentship project during Richards' time at
Huddersfield]
2. Richards, M, Macaulay, V, Torroni, A, Bandelt, H-J (2002): In
Search of Geographical
Patterns in European mtDNA, American Journal of Human Genetics,
71, 1168-1174.
doi:10.1086/342930 (Scopus 25/11/13 = 83)
3. Torroni, A, Bandelt, H-J, Macaulay, V, Richards, M, et al.
(2001): A Signal, from Human
mtDNA, of Postglacial Re-Colonization in Europe, American Journal of
Human Genetics,
844-852. doi:10.1086/323485 (Scopus 25/11/13 = 161)
4. Hill, C, Soares, P, Mormina, M, Macaulay, V, Clarke, D,
Blumbach, PB, Vizuete-Forster, M,
Forster, P, Bulbeck, D, Oppenheimer, S, Richards, M
(2007): A Mitochondrial Stratigraphy
for Island Southeast Asia, American Journal of Human Genetics, 80,
29-43.
doi:10.1086/510412 (Scopus 25/11/13 = 94) [work carried out as Hill's
studentship project
during Richards' time at Huddersfield]
5. Salas, A, Richards, M, De la Fe, T, Lareu, MV, Sobrino, B,
Sanchez-Diz, P, Macaulay, V,
Carracedo, A (2002): The Making of the African mtDNA Landscape, American
Journal of
Human Genetics, 71, 1082-1111. doi:10.1086/344348 (Scopus 25/11/13 =
276) [work
mainly carried out during visit of Salas to Huddersfield in 2001]
6. Fernandes, V, Alshamali, F, Alves, M, Costa MD, Pereira JB, Cherni, L,
Harich, N, Cerny,
V, Soares, P, Richards, MB, Pereira L (2012): The Arabian Cradle:
Mitochondrial Relicts of
the First Steps Along the Southern Route out of Africa, American
Journal of Human
Genetics, 90, 347-355. doi:10.1016/j.ajhg.2011.12.010 (Scopus
25/11/13 = 17)
Some research grants [* = awarded to/funds held at Leeds, but
remaining active and carried over
to Richards' time at Huddersfield]:
• Radiocarbon dating and the peopling of late glacial Europe and the
Near East. The
Leverhulme Trust Research Project Grant to MBR with Dr Paul Pettitt
(University of Bristol)
(as Co-Investigators) and Professor Clive Gamble (University of
Southampton, Principal
Applicant). May 2001-April 2004. £84,185
• Which way out of Africa? Royal Society Research Grant to MBR.
August 2003-July 2004.
£10,000
• The modern human settlement of south-east Asia. British Academy
Project Grant. Award
reference: LRG-35407, to MBR. April 2003-March 2005. £20,000
• The first stop of the modern human migration out of Africa
(75,000-60,000 years ago): high-
resolution characterization of informative mitochondrial DNA,
Y-chromosome and autosomal
markers in the Arabian Peninsula and Near East. FCT studentship (to
MBR, with Dr Luisa
Pereira, IPATIMUP), December 2009-November 2013. 50,000 Euros*
• Characterising modern human dispersals in the Greater Mediterranean
by combining genetic
and archaeological data. FCT studentship (to MBR, with Dr Luisa
Pereira, IPATIMUP),
February 2009-January 2013. 50,000 Euros*
• Genetic characterisation of the European settlement by modern humans
in the Early Upper
Palaeolithic. FCT studentship (to MBR, with Dr Luisa Pereira,
IPATIMUP), February 2009-
January 2013. 50,000 Euros*
• Complete mitochondrial DNA sequence variation in the Malay Peninsula.
Universiti Sains
Malaysia funded studentship (to MBR, with Dr Stephen Chia, USM and Dr
Stephen
Oppenheimer, University of Oxford), February 2010-January 2014. £31,575
consumables*
• Anchoring New Guinea in Southeast Asia and Melanesia:
multidisciplinary investigations of
long-term social interaction and identity formation. Australian
Research Council Project
Grant, Partner Investigator MBR, with Chief Investigators Professor Mark
Donohue
(Australian National University) and Dr Tim Denham (Monash University),
January 2010-
December 2012, £234,000 (402,000AuD)
• Complete mtDNA variation and the modern human settlement of
Southwest Asia.
Leverhulme Trust Research Project Grant (to MBR; Co-I's Dr Vincent
Macaulay (University
of Glasgow), Professor Antonio Torroni (University of Pavia), and Douglas
Baird (University
of Liverpool), September 2010-August 2013. £147,965*
• Demography of modern humans in Southeast Asia and the Portuguese
Overseas Empire
Influence: a genetic approach. FCT studentship (to MBR, with Dr
Luisa Pereira & Dr Pedro
Soares, IPATIMUP), January 2012-December 2015. [50,000 Euros consumable
funding
withdrawn due to Portuguese government cutbacks]
• Immortalisation of ancient DNA extracts as libraries and targeted
DNA-capture of whole
mitochondrial genome sequences from ancient humans/hominids. Royal
Society Project
Grant, to MBR and Dr Paul Brotherton, April 2012-March 2013, £15,000
Details of the impact
The work of the Archaeogenetics Research Group has significantly
contributed to furthering the
understanding of human history and ancestry, benefiting not just immediate
peers and experts in
related fields but also a range of non-specialist audiences.
Having originally provided one of its main pillars, the ARG's research
continues to underpin the
growing genetic ancestry testing industry. The companies operating within
this sphere draw on
both their published mtDNA sequences and the system of haplogroup
nomenclature and details of
the distributions of lineages of mtDNA, data analyses and interpretations
developed by the ARG
and their colleagues. This influence reaches across firms in the UK and
the US, as well as the
large-scale National Geographic/IBM-funded Genographic Project, and has
stimulated numerous
amateur genealogists to set up websites dedicated to their own mtDNA
lineage or providing
information for fellow enthusiasts. Dr Jim Wilson [a], who has founded
several successful ancestry
testing companies, has remarked: "Richards' research underpins significant
parts of the mtDNA
products available from all genetic ancestry testing companies, a global
market with over half a
million customers. From his earliest studies through to his latest work on
West Asia, Africa, Europe
and Far East, his discoveries of the structure of the mtDNA tree, the
phylogeography of the
branches and advances in dating combine to reveal the ancestral female
line history of modern
humans."
Conscious that the impact of such companies might not always be positive,
Richards has also
played a key role in providing guidance for the industry. In March 2010,
having specifically
requested his input, the Human Genetics Commission, which until May 2012
served as the UK
government's advisory body on new developments in the field, published
revised advice for the
general public, warning of genetic ancestry tests' inherent limitations.
In August 2010 this led to
HGC publishing A Common Framework of Principles for Direct-to-Consumer
Genetic Testing
Services [b], which included guidance on genetic ancestry tests.
The ARG's expertise has impacted on society and culture through extensive
media involvement,
particularly in the form of advice for TV and radio programmes. The ARG
has also sought to
analyse and evidence the benefits of this input by surveying the new
audiences it has been able to
reach.
In 2009, Richards was consultant for the BBC Two series The
Incredible Human Journey [c], which
was screened in May and June that year and attracted an average of 2m
viewers per episode. The
programme drew especially on work in references 1-3 for its narrative. 26
out of 120 respondents
in a survey carried out in October 2012/June 2013 (see below) remembered
seeing the show, and
more than three-quarters of these said it changed their view of human
evolution. Series producer
Paul Bradshaw has remarked: "It has been clear from the public
response that [the programme]
stirred up wide interest in this fundamental area and helped put this
deep ancestral story into the
consciousness of the nation... Martin's input had a steadying and
confidence-building effect on our
narrative and, in turn, helped inform and enlighten our viewers."
Richards was also consultant for the first episode of BBC One's Andrew
Marr's History of the
World [d], screened in September 2012 to an audience of 3.85m.
Research on the out-of-Africa
dispersal (references 1, 6) was dramatised over the first fifteen minutes
of the programme, for
which Richards also checked and amended the voice-over script. Marr wrote
in the Radio Times:
"When I discovered... that every person now alive who is not a sub-Saharan
African shares
ancestry from a single tribe that left Africa some 70,000 years ago...
well, that felt like a wonderful
place to begin." 19 out of 120 survey respondents saw the programme, and
almost two-thirds of
these said it changed their view of human evolution. The series is now
used in schools as a
teaching aid. Producer/director Guy Smith has credited Richards' "authoritative
contribution" with
"making a difficult subject accessible to a broad television audience".
Richards was also interviewed on film and consulted for Norwegian
Roots [e], a three-part
documentary series by the Norwegian Broadcasting Company (NRK), which was
shown first on
NRK1 in March 2012 to a 36% audience share (one of the most viewed
programmes in Norway
that week) and drew on work in references 2 and 3. This led to the ARG's
involvement in a
production for Newton, NBK's children's science series, telling
the story of human migrations
through mtDNA. Richards was also an adviser for BBC One's Meet the
Izzards [f], screened in
March 2013 and attracting an audience of 2.6m, in which comedian Eddie
Izzard used DNA to
trace his ancestry out of Africa and into Europe, and for a 10-minute
feature on the modern human
dispersal out of Africa for an April 2011 episode of BBC One's Bang
Goes the Theory, which
typically attracts more than 3m viewers. Meet the Izzards
assistant producer Alex Gliddon has
acknowledged Richards' role as of "crucial importance to relaying
complex subjects to the wider
public". Richards has argued the case for phylogeographic analysis
in a May 2013 Guardian Notes
and Theories blog [g], correcting some common misconceptions about how the
results are
achieved, and has also advised on the archaeogenetic aspects of works of
popular history, such as
Higham and Ryan's The Anglo-Saxon World (YUP, June 2013).
The ARG's efforts to communicate its work to a broader audience have been
further supported by
a number of talks to the general public. These have included lectures and
discussions at the
University of Leicester (February 2008), Nottingham Science Café (March
2008), the University of
Oxford (April 2011) and Otley Science Café (July 2011), with an invitation
to speak at a day school
entitled "Palaeolithic Archaeology: Current Scientific Investigations" at
the Department for
Continuing Education, University of Oxford, in October 2014. In July 2012,
and again in July 2013,
members of the ARG also gave a series of talks to A-level students from
Greenhead College,
Huddersfield, leading to enthusiastic feedback on Facebook.
In October 2012 Richards delivered another public lecture, The
Genetic Time Machine:
Archaeogenetics and Human Ancestry, to an audience of around 250 at
the University of
Huddersfield (delivered again in June 2013 at the Barnsley Campus).
Afterwards, 41 out of 120
survey respondents "completely agreed" with the statement "The lecture
told me things I didn't
know about human evolution and dispersals that changed my views of this
area of science"; 49
"agreed". Some 73 per cent of respondents said they were stimulated to
find out more about
human origins, and almost half of those who responded said the lecture
changed their view on
whether to take a genetic ancestry test [h].
Sources to corroborate the impact
a. Dr Jim Wilson, founder, Ethnoancestry, ScotlandsDNA,
BritainsDNA, IrelandsDNA
b. Bionews report on publication of A Common Framework of Principles
for Direct-to-Consumer
Genetic Testing Services, August 9 2010 http://www.bionews.org.uk/page_68221.asp
c. Paul Bradshaw, producer, The Incredible Human Journey
d. Guy Smith, producer/director, Andrew Marr's History of the World
e. Svein Haaland, head of documentary, NRK (Norwegian Roots)
f. Alex Gliddon, assistant producer, Meet the Izzards
g. Martin Richards and Vincent Macaulay, The Guardian Notes and
Theories, 8/4/13:
http://www.theguardian.com/science/blog/2013/apr/08/unfair-genetic-ancestry-testing-astrology
h. Martin Richards, Public Lecture survey results (Excel spreadsheet,
obtainable on request)