Trends in Genetics
ReviewWhat's in a name? Y chromosomes, surnames and the genetic genealogy revolution
Section snippets
Cultural markers of ancestry
Before Darwin, humans accorded themselves a special place in the kingdom of life. Now, 150 years after the publication of the Origin of Species, we can appreciate that we are part of the continuum of the evolution of all species, but our unique qualities remain undeniable. Homo sapiens literally means ‘knowing man’, but Linnaeus might equally have called us Homo nominans – ‘naming man’ – because of our capacity for complex language and our innate need to apply names to things, and indeed to
History, inheritance and diversity of surnames
In human societies, having a name, and thus being identifiable, is essential. The addition of a heritable element facilitates identification and also marks lineages, providing a label of regional and familial membership. Although some societies (such as that of Iceland) continue to eschew heritable surnames, governments like them and, in some countries, have imposed them quite recently. For example, in Turkey all citizens were obliged to adopt a heritable surname in 1934 and in Mongolia a
Patrilineal surnames and the Y chromosome
Given that DNA passes down to us from our ancestors together with surnames, people sharing surnames should have a greater than average chance of sharing segments of DNA by descent than the general population. Although most DNA is inherited from both parents, there is one segment, the non-recombining region of the Y chromosome, which is only passed down from father to son [6]. We might therefore expect that a surname should correlate with a type of Y chromosome, inherited from a shared paternal
Y chromosome diversity within surnames of the British Isles
Most detailed studies have focused on surnames of the British Isles. The pioneering and eponymous study of the surname Sykes[4] indicated low Y-haplotype diversity among unrelated carriers of the name, suggesting that this was compatible with a single founder. However, its haplotype resolution (four Y-STRs) was low.
The availability of more STRs and haplogroup-defining SNPs (Box 2) has enabled higher-resolution studies to be performed. A general link between surnames and Y haplotypes was
Applications of surname studies
The first application of surnames in genetics was in ‘isonymy’ studies, a field originated by Charles Darwin's son George, in which surnames were used to estimate the degree of inbreeding in populations, based on the frequency of same-surname marriages [12] or on surname frequencies alone [13]. The underlying assumption that a shared surname implies shared ancestry has not been tested in most of the surveyed populations and, as our previous discussion indicates, is often likely to be incorrect
Future developments
Sampling of a wider variety of populations and their surnames will help to alleviate the current geographical bias and should lead to interesting new insight into social and demographic history. However, most new advances will arise from exploitation of recent technological developments. Improvements to the methods of analysis of ancient DNA should enable the testing of genealogical links between living individuals and putative patrilineal ancestors and also among archaeological human remains 47
Acknowledgements
Our work is supported by the Wellcome Trust, including a Senior Research Fellowship in Basic Biomedical Science (grant number 057559) to M.A.J. We thank Pablo Mateos for making available summary information on surname frequencies and distributions; Steve Archer, Patricia Balaresque, Francesc Calafell, Holly Eckhardt, Dafeng Hui, Andrew Nicoll and Himla Soodyall for assistance; and three anonymous reviewers for helpful comments.
References (75)
Genetic signatures of coancestry within surnames
Curr. Biol.
(2006)- et al.
Surnames and the Y chromosome
Am. J. Hum. Genet.
(2000) The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time
Am. J. Hum. Genet.
(2004)A Y-chromosome signature of hegemony in Gaelic Ireland
Am. J. Hum. Genet.
(2006)In the name of the father: surnames and genetics
Trends Genet.
(2001)Inferential genotyping of Y chromosomes in Latter-Day Saints founders and comparison to Utah samples in the HapMap project
Am. J. Hum. Genet.
(2009)Relating two deep-rooted pedigrees from Central Germany by high-resolution Y-STR haplotyping
Forensic Sci. Int.; Genet.
(2007)Nuclear and mitochondrial DNA analysis of a 2,000-year-old necropolis in the Egyin Gol Valley of Mongolia
Am. J. Hum. Genet
(2003)Y chromosome haplotype reference database (YHRD): update
Forensic Sci. Int.; Genet.
(2007)A comprehensive survey of human Y-chromosomal microsatellites
Am. J. Hum. Genet.
(2004)
Messages through bottlenecks: on the combined use of slow and fast evolving polymorphic markers on the human Y chromosome
Am. J. Hum. Genet
Founders, drift and infidelity: the relationship between Y chromosome diversity and patrilineal surnames
Mol. Biol. Evol.
Y-chromosomes and the extent of patrilineal ancestry in Irish surnames
Hum. Genet.
What's in a name?
EMBO Rep
The human Y chromosome: an evolutionary marker comes of age
Nat. Rev. Genet.
Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees
Hum. Mol. Genet.
Mutation rates at Y chromosome specific microsatellites
Hum. Mutat.
Names and History: People, Places and Things
Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies
Am. J. Phys. Anthropol.
Marriages between first cousins in England and their effects
J. Statist. Soc.
Surnames and Genetic Structure
Doubts about isonymy
Hum. Biol.
Use of surname models in human population biology: a review of recent developments
Hum. Biol.
A review of name-based ethnicity classification methods and their potential in population studies
Popul. Space Place
Using a Spanish surname match to improve identification of Hispanic women in Medicare administrative data
Health Serv. Res.
Mortality, cause of death and life expectancy of Chinese Canadians in Alberta
Can. J. Public Health
Using names to segment customers by cultural, ethnic or religious origin
J. Dir. Data Digit. Mark. Pract.
Y chromosomes and Irish origins
Nature
Genetic investigation of the patrilineal kinship structure of early medieval Ireland
Am. J. Phys. Anthropol.
The scale and nature of Viking settlement in Ireland from Y-chromosome admixture analysis
Eur. J. Hum. Genet.
Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy
Eur. J. Hum. Genet.
Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate
Proc. Natl. Acad. Sci. U. S. A
New method for surname studies of ancient patrilineal population structures, and possible application to improvement of Y-chromosome sampling
Am. J. Phys. Anthropol.
Excavating past population structures by surname-based sampling: the genetic legacy of the Vikings in northwest England
Mol. Biol. Evol.
How well does paternity confidence match actual paternity? Evidence from worldwide nonpaternity rates
Curr. Anthropol.
Anonymous sperm donor traced on internet
New Sci.
Cited by (136)
A surname-based index of migration intensity and its application in China
2023, Physica A: Statistical Mechanics and its ApplicationsY-chromosome analysis for unidentified human remains (UHR) investigations
2022, Forensic Genetic Approaches for Identification of Human Skeletal Remains: Challenges, Best Practices, and Emerging TechnologiesSocial mobility in historical economics
2021, The Handbook of Historical EconomicsMassively parallel sequencing of sex-chromosomal STRs in Saudi Arabia reveals patrilineage-associated sequence variants
2020, Forensic Science International: Genetics