Y-chromosomes and the extent of patrilineal ancestry in Irish surnames

Ireland has one of the oldest systems of patrilineal hereditary surnames in the world. Using the paternal co-inheritance of Y-chromosome DNA and Irish surnames, we examined the extent to which modern surname groups share a common male-line ancestor and the general applicability of Y-chromosomes in uncovering surname origins and histories. DNA samples were collected from 1,125 men, bearing 43 different surnames, and each was genotyped for 17 Y-chromosome short tandem repeat (STR) loci. A highly significant proportion of the observed Y-chromosome diversity was found between surnames demonstrating their demarcation of real and recent patrilineal kinship. On average, a man has a 30-fold increased chance of sharing a 17 STR Y-chromosome haplotype with another man of the same surname but the extent of congruence between the surname and haplotype varies widely between surnames and we attributed this to differences in the number of early founders. Some surnames such as O’Sullivan and Ryan have a single major ancestor, whereas others like Murphy and Kelly have numerous founders probably explaining their high frequency today. Notwithstanding differences in their early origins, all surnames have been extensively affected by later male introgession. None examined showed more than about half of current bearers still descended from one original founder indicating dynamic and continuously evolving kinship groupings. Precisely because of this otherwise cryptic complexity there is a substantial role for the Y-chromosome and a molecular genealogical approach to complement and expand existing sources.     

Genetic signatures of coancestry within surnames

Surnames are cultural markers of shared ancestry within human populations. The Y chromosome, like many surnames, is paternally inherited, so men sharing surnames might be expected to share similar Y chromosomes as a signature of coancestry. Such a relationship could be used to connect branches of family trees, to validate population genetic studies based on isonymy, and to predict surname from crime-scene samples in forensics. However, the link may be weak or absent due to multiple independent founders for many names, adoptions, name changes and nonpaternities, and mutation of Y haplotypes. Here, rather than focusing on a single name, we take a general approach by seeking evidence for a link in a sample of 150 randomly ascertained pairs of males who each share a British surname. We show that sharing a surname significantly elevates the probability of sharing a Y-chromosomal haplotype and that this probability increases as surname frequency decreases. Within our sample, we estimate that up to 24% of pairs share recent ancestry and that a large surname-based forensic database might contribute to the intelligence-led investigation of up to approximately 70 rapes and murders per year in the UK. This approach would be applicable to any society that uses patrilineal surnames of reasonable time-depth.     

Integrating microsatellite and pedigree analyses to facilitate the captive management of the endangered Mississippi sandhill crane (Grus canadensis pulla)

The minimization of kinship in captive populations is usually achieved through the use of pedigree information. However, pedigree knowledge alone is not sufficient if pedigree information is missing, questionable, or when the founders of the captive population are related to one another. If this is the case, higher levels of inbreeding and lower levels of genetic diversity may be present in a captive population than those calculated by pedigree analyses alone. In this study, the genetic status of the critically endangered Mississippi sandhill crane (MSC) (Grus canadensis pulla) was analyzed using studbook data from the U.S. Fish and Wildlife Service managed captive breeding program as well as microsatellite DNA data. These analyses provided information on shared founder genotypes, allowing for refined analysis of genetic variation in the population, and the development of a new DNA-based studbook pedigree that will assist in the genetic management of the MSC population.     

A study of contemporary levels and temporal trends in inbreeding in the Tangier Island, Virginia, population using pedigree data and isonymy

In this study we describe inbreeding in a large pedigree from Tangier Island, Virginia, in which we compare two commonly used methods to estimate inbreeding in humans: pedigree and isonymy (identical surnames of spouses). Genealogical data on 3,512 individuals dating back to 1722 were used. Using the pedigree method, we determined an average inbreeding coefficient (F) of 0.00873 for the community as a whole, and 0.018 for inbred individuals. Analysis of temporal trends showed that inbreeding began around 1800 and peaked at 0.0109 in 1824-1849 and 1875-1899. Thereafter, inbreeding steadily declined to 0.00565 in 1975-1997. Analysis of pedigree structure complexity over time showed that close consanguinity contributes to inbreeding in the earlier cohorts, and remote consanguinity accounts for much of the inbreeding in the later cohorts. The number of common ancestors increases over time, as does the number of paths connecting inbred individuals to these common ancestors. Inbreeding estimates based on the isonymy approach yielded a 2.2-fold higher value of F (0.01945) compared to the pedigree method. Total isonymy estimates over 25-year cohorts overestimated inbreeding values from pedigree data between 1. 5-8-fold. We speculate that the overestimation is probably due to the inability of our data to satisfy the method's assumption of monophyletic origin of each surname. In conclusion, inbreeding in the Tangier Island population is consistent with the isolated nature of its population, and temporal trends reflect patterns in emigration and a breakdown in isolation over time.     

Identification of kin structure among Guam rail founders: a comparison of pedigrees and DNA profiles

Kin structure among founders can have a significant effect on subsequent population structure. Here we use the correlation between DNA profile similarity and relatedness calculated from pedigrees to test hypotheses regarding kin structure among founders to the captive Guam rail (Rallus owstoni) population. Five different pedigrees were generated under the following hypotheses: (i) founders are unrelated; (ii) founders are unrelated except for same-nest chicks; (iii) founders from the same major site are siblings; (iv) founders from the same local site are siblings; and (v) founders are related as defined by a UPGMA cluster analysis of DNA similarity data. Relatedness values from pedigrees 1, 2 and 5 had the highest correlation with DNA similarity but the correlation between relatedness and similarity were not significantly different among pedigrees. Pedigree 5 resulted in the highest correlation overall when using only relatedness values that changed as a result of different founder hypotheses. Thus, founders were assigned relatedness based on pedigree 5 because it had the highest correlations with DNA similarity, was the most conservative approach, and incorporated all field data. The analyses indicated that estimating relatedness using DNA profiles remains problematic, therefore we compared mean kinship, a measure of genetic importance, with mean DNA profile similarity to determine if genetic importance among individuals could be determined via use of DNA profiles alone. The significant correlation suggests this method may provide more information about population structure than was previously thought. Thus, DNA profiles can provide a reasonable explanation for founder relatedness and mean DNA profile similarity may be helpful in determining relative genetic importance of individuals when detailed pedigrees are absent.     

Quantifying realized inbreeding in wild and captive animal populations

Most molecular measures of inbreeding do not measure inbreeding at the scale that is most relevant for understanding inbreeding depression—namely the proportion of the genome that is identical-by-descent (IBD). The inbreeding coefficient F_Ped obtained from pedigrees is a valuable estimator of IBD, but pedigrees are not always available, and cannot capture inbreeding loops that reach back in time further than the pedigree. We here propose a molecular approach to quantify the realized proportion of the genome that is IBD (propIBD), and we apply this method to a wild and a captive population of zebra finches (Taeniopygia guttata). In each of 948 wild and 1057 captive individuals we analyzed available single-nucleotide polymorphism (SNP) data (260 SNPs) spread over four different genomic regions in each population. This allowed us to determine whether any of these four regions was completely homozygous within an individual, which indicates IBD with high confidence. In the highly nomadic wild population, we did not find a single case of IBD, implying that inbreeding must be extremely rare (propIBD=0–0.00094, 95% CI). In the captive population, a five-generation pedigree strongly underestimated the average amount of realized inbreeding (F_Ped=0.013<propIBD=0.064), as expected given that pedigree founders were already related. We suggest that this SNP-based technique is generally useful for quantifying inbreeding at the individual or population level, and we show analytically that it can capture inbreeding loops that reach back up to a few hundred generations.     

Russian genofond. Genogeography of surnames

Surnames are traditionally used in population genetics as "quasi-genetic" markers (i.e., analogs of genes) when studying the structure of the gene pool and the factors of its microevolution. In this study, spatial variation of Russian surnames was analyzed with the use of computer-based gene geography. Gene geography of surnames was demonstrated to be promising for population studies on the total Russian gene pool. Frequencies of surnames were studied in 64 sel'sovets (rural communities; a total of 33 thousand persons) of 52 raions (districts) of 22 oblasts (regions) of the European part of Russia. For each of 75 widespread surnames, an electronic map of its frequency was constructed. Summary maps of principal components were drawn based on all maps of individual surnames. The first 5 of 75 principal components accounted for half of the total variance, which indicates high resolving power of surnames. The map of the first principal component exhibits a trend directed from the northwestern to the eastern regions of the area studied. The trend of the second component was directed from the southwestern to the northern regions of the area studied, i.e., it was close to latitudinal. This trend almost coincided with the latitudinal trend of principal components for three sets of data (genetic, anthropological, and dermatoglyphical). Therefore, the latitudinal trend may be considered the main direction of variation of the Russian gene pool. The similarity between the main scenarios for the genetic and quasi-genetic markers demonstrates the effectiveness of the use of surnames for analysis of the Russian gene pool. In view of the dispute between R. Sokal and L.L. Cavalli-Sforza about the effects of false correlations, the maps of principal components of Russian surnames were constructed by two methods: through analysis of maps and through direct analysis of original data on the frequencies of surnames. An almost complete coincidence of these maps (correlation coefficient rho = 0.96) indicates that, taking into account the reliability of the data, the resultant maps of principal components have no errors of false correlations.     

Evaluation of genetic variation in the international Brown Swiss population

The international Brown Swiss cattle population pedigree was studied to measure genetic variations and to identify the most influential animals. Twenty-two countries provided pedigree information on 71 497 Brown Swiss bulls used for artificial insemination (AI). The total number of animals with the pedigree is 181 094. The mean inbreeding coefficient for the pedigree population was 0.77%. There was, in most cases, an increase in the mean inbreeding coefficient, with the highest value at 2.89% during the last 5-year period (2000 to 2004). The mean average relatedness for the pedigree population was 1.1%. The effective population size in 2004 was 204. There was notable variation between average generation intervals for the four parental pathways. The longest average generation interval, at 8.73 years, was observed in the sire–son pathway. The average generation interval for the whole population was 6.53 years. Most genetically influential individuals were sires. The highest contributing founder was a sire with a 3.22% contribution, and the highest contributing founder dam made a contribution of 1.75%. The effective number of founders and the effective number of ancestors were 141 and 88, respectively. The study showed that genetic variation within the pedigree population has been decreasing over recent years. Increasing the number of AI bulls with a low individual coefficient of inbreeding could help to maintain a good level of genetic variation in the Brown Swiss population.     

DNA fingerprinting in Speke's gazelle: a test for genetic distinctness, and the correlation between relatedness and similarity

In the absence of pedigree information, the determination of genetic distinctness of populations can only be made by genetic methods. Using DNA fingerprinting on the North American captive herd of Speke's gazelle Gazella spekei , we were able to address two hypotheses. First, two new individuals were found to have come from a genetically distinct population ( P = 0.008, permutation test), and represent potential new founders to be added to the population. Secondly, genetic similarity was not significantly correlated with relatedness under extreme inbreeding and very close relationship (coefficient of relationship range 0.304-0.717).     

Pedigree analysis of the closed nucleus of Iranian Baluchi sheep

A study was conducted to characterise genetic diversity in the closed nucleus of Baluchi sheep using pedigree analysis. Herdbook information collected between 1979 and 2008, including pedigree records on 21,721 animals, was used to compute inbreeding and average generation intervals. Effective population size and parameters derived from probability of gene origin were computed for ewes born between 2005 and 2008 with both parents known (female reference population). The average complete generation equivalent of the female reference population was 5.47. The mean generation interval was 3.33 years in the studied period. From 1983 to 1994, the rate of increase in inbreeding was approximately 0.2% per year, but, after 1994, inbreeding did not increase as in the preceding years and had an approximately flat trend over time. The mean relationship coefficients among rams, among ewes and between rams and ewes in active animals were calculated to predict the future level of inbreeding. The effective number of founders, effective number of ancestors and founder genome equivalent of the reference population were 80, 47 and 19.5, respectively. The realised effective population size was 134 animals. The results of this study indicated that the population under study has fairly good genetic variability.     

Genetic demographic description of the Ust-Aldan rural population of Sakha Republic (Yakutia): ethnic, sex, and age compositions, vital statistics, and surname structure

Information on the sex, age, and ethnic compositions; reproductive parameters; intensity of natural selection (Crow's indices); and surname diversity of three rural populations (the Byadi, Dyupsya, and Cheriktey villages) of the Ust-Aldan ulus (district) of Sakha Republic (Yakutia) has been analyzed. The rural Yakut population of the Ust-Aldan ulus is demographically young (the mean age 25-31 years) and characterized by low outbreeding, unfavorable sex ratio in both prereproductive and reproductive ages, and high fertility (3.58-5.45 children surviving until the reproductive age per woman that has completed the reproductive period), although the actual reproductively active period is shorter than half its physiological duration. In the structure of total selection, the differential-fertility component is considerably greater than the differential-mortality component (Itot = 0.625, Im = 0.093, and If = 0.487). In the villages studied, some surnames are accumulated (45-65% of the population have five most frequent surnames), which determines the low surname diversity (alpha = 11.62-25.19) and high random isonymy (Ir = 0.0391-0.0823).     

Relatedness coefficients in pedigrees with inbred founders

We study an extension of the standard framework for pedigree analysis, in which we allow pedigree founders to be inbred. This solves a number of practical challenges in calculating coefficients of relatedness, including condensed identity coefficients. As a consequence we expand considerably the class of pedigrees for which such coefficients may be efficiently computed. An application of this is the modelling of background inbreeding as a continuous effect. We also use inbred founders to shed new light on constructibility of relatedness coefficients, i.e., the problem of finding a genealogy yielding a given set of coefficients. In particular, we show that any theoretically admissible coefficients for a pair of noninbred individuals can be produced by a finite pedigree with inbred founders. Coupled with our computational methods, implemented in the R package ribd, this allows for the first time computer analysis of general constructibility solutions, thus making them accessible for practical use.

     

一个可用于复杂大群体的可视化系谱绘制和分析软件

对于在遗传研究和家系研究中大的系谱结构图还很难分析。系谱的绘制通常是遗传性状的分析研究的第一步。系图可以反映整个群体的结构、每个个体之间的相互关系以及基因流的走向,便于理解遗传性状的本质。因为所用家系数目的增大和复杂性的增加,绘制1个清晰的系谱有时变得十分困难。因此开发了1种名为Pedigraph软件,可以解决这个问题。Pedigraph能够完成对于大的复杂的群体的系谱绘制工作,并能进行相应的系谱分析。初步的测试表明这个软件在研究动植物的遗传育种中是1个有用的工具,同时它也可以用于人类的群体和历史等方面的研究。     

The power of genetic monitoring for studying demography,ecology and genetics of a reintroduced brown bear population

Genetic monitoring has rarely been used for wildlife translocations despite the potential benefits this approach offers, compared to traditional field‐based methods. We applied genetic monitoring to the reintroduced brown bear population in northern Italy. From 2002 to 2008, 2781 hair and faecal samples collected noninvasively plus 12 samples obtained from captured or dead bears were used to follow the demographic and geographical expansion and changes in genetic composition. Individual genotypes were used to reconstruct the wild pedigree and revealed that the population increased rapidly, from nine founders to >27 individuals in 2008 (λ = 1.17–1.19). Spatial mapping of bear samples indicated that most bears were distributed in the region surrounding the translocation site; however, individual bears were found up to 163 km away. Genetic diversity in the population was high, with expected heterozygosity of 0.74–0.79 and allelic richness of 4.55–5.41. However, multi‐year genetic monitoring data showed that mortality rates were elevated, immigration did not occur, one dominant male sired all cubs born from 2002 to 2005, genetic diversity declined, relatedness increased, inbreeding occurred, and the effective population size was extremely small (Ne = 3.03, ecological method). The comprehensive information collected through genetic monitoring is critical for implementing future conservation plans for the brown bear population in the Italian Alps. This study provides a model for other reintroduction programmes by demonstrating how genetic monitoring can be implemented to uncover aspects of the demography, ecology and genetics of small and reintroduced populations that will advance our understanding of the processes influencing their viability, evolution, and successful restoration.     

The Russian Gene Pool: Gene Geography of Surnames

Surnames are traditionally used in population genetics as quasi-genetic markers (i.e., analogs of genes) when studying the structure of the gene pool and the factors of its microevolution. In this study, spatial variation of Russian surnames was analyzed with the use of computer-based gene geography. Gene geography of surnames was demonstrated to be promising for population studies on the total Russian gene pool. Frequencies of surnames were studied in 64 sel'sovets (rural communities; a total of 33 thousand persons) of 52 raions (districts) of 22 oblasts (regions) of the European part of Russia. For each of 75 widespread surnames, an electronic map of its frequency was constructed. Summary maps of principal components were drawn based on all maps of individual surnames. The first 5 of 75 principal components accounted for half of the total variance, which indicates high resolving power of surnames. The map of the first principal component exhibits a trend directed from the northwestern to the eastern regions of the area studied. The trend of the second component was directed from the southwestern to the northern regions of the area studied, i.e., it was close to latitudinal. This trend almost coincided with the latitudinal trend of principal components for three sets of data (genetic, anthropological, and dermatoglyphical). Therefore, the latitudinal trend may be considered the main direction of variation of the Russian gene pool. The similarity between the main scenarios for the genetic and quasi-genetic markers demonstrates the effectiveness of the use of surnames for analysis of the Russian gene pool. In view of the dispute between R. Sokal and L.L. Cavalli-Sforza about the effects of false correlations, the maps of principal components of Russian surnames were constructed by two methods: through analysis of maps and through direct analysis of original data on the frequencies of surnames. An almost complete coincidence of these maps (correlation coefficient = 0.96) indicates that, taking into account the reliability of the data, the resultant maps of principal components have no errors of false correlations.     

Testing isonymy with paternal and maternal lineages in the early Québec population: the impact of polyphyletism and demographic differentials

Isonymy is an ingenious and useful approach to studying kinship in human populations. However, it relies on assumptions that are difficult to verify. In this study, we provided a way to assess, in the early Québec population, the impact of factors such as polyphyletism, unbalanced sex-ratio among founders, and age differentials between spouses. All data were taken from the Population Register of Early Québec, which contains births, marriages, and deaths (>712,000) recorded in parish registers from the beginning of colonization (in 1608) to 1800. More specifically, using the 70,869 marriages recorded during that period, we compared kinship estimates given by genealogies, surnames, and paternal and maternal lineages. We also calculated a fifth coefficient of kinship by combining paternal and maternal lineage, thus providing a new way to test the isonymy method. The results show a good agreement between genealogical and isonymous estimates. However, this good correspondence is due to counterbalancing biases. Some of the implications of our results are discussed in the context of colonial America.     

Pedigrees and microsatellites among endangered ungulates: what do they tell us?

Relationships between pedigree coefficients of inbreeding and molecular metrics are generally weak, suggesting that measures of heterozygosity estimated using microsatellites may be poor surrogates of genome-wide inbreeding. We compare three endangered species of gazelles ( Gazella ) with different degrees of threat in their natural habitats, for which captive breeding programmes exist. For G. dorcas, the species with the largest founding population, the highest and most recent number of founding events, the correlation between pedigree coefficient of inbreeding and molecular metrics was higher than for outbred populations of mammals, probably because it has both higher mean f and variance. For the two species with smaller founding populations, conventional assumptions about founders, i.e. outbred and unrelated, are unrealistic. When realistic assumptions about the founders were made, clear relationships between pedigree coefficients of inbreeding and molecular metrics were revealed for G. cuvieri. This population had a small founding population, but it did experience admixture years later; thus, the relationship between inbreeding and molecular metrics in G. cuvieri is very similar to the expected values but lower than in G. dorcas . In contrast, no relationship was found for G. dama mhorr which had a much smaller founding population than had been previously assumed, which probably had high levels of inbreeding and low levels of genetic variability, and no admixture. In conclusion, the strength of the association between pedigree coefficient of inbreeding and molecular metrics among endangered species depends on the level of inbreeding and genetic variability present in the founding population, its size and its history.     

Pedigree reconstruction using molecular data reveals an early warning sign of gene diversity loss in an island population of Tasmanian devils (<Emphasis Type="Italic">Sarcophilus harrisii</Emphasis>)

Tasmanian devils have experienced an 85% population decline since the emergence of an infectious cancer. In response, a captive insurance population was established in 2006 with a subpopulation later introduced onto Maria Island, Tasmania. We aimed to (1) examine the genetic parameters of the Maria Island population as a stand-alone site and within its broader metapopulation context, (2) assess the efficacy of assisted colonisations, and (3) inform future translocations. This study reconstructs the pedigree of 86 island-born devils using 31 polymorphic microsatellite loci. Combined molecular and pedigree analysis was used to monitor change in population genetic parameters in 4 years since colonisation. Molecular analysis alone revealed no significant change in genetic diversity, while DNA-reconstructed pedigree analysis revealed a statistically significant increase in inbreeding due to skewed founder representation. Pedigree modelling predicted that gene diversity would only be maintained above the threshold of 95% for a further 2 years, dropping to 77.1% after 40 years. Modelling alternative supplementation strategies revealed introducing eight new founders every 3 years will enable the population to retain 95% gene diversity until 2056, provided the translocated animals breed; to ensure this we recommend introducing ten new females every 3 years. We highlight the value of combining pedigree analyses with molecular data, from both a single-site and metapopulation viewpoint, for analysing changes in genetic parameters within populations of conservation concern. The importance of post-release genetic monitoring in an established population is emphasised, given how quickly inbreeding can accumulate and gene diversity be lost.     

The Surname Space of the Czech Republic: Examining Population Structure by Network Analysis of Spatial Co-Occurrence of Surnames

In the majority of countries, surnames represent a ubiquitous cultural attribute inherited from an individual''s ancestors and predominantly only altered through marriage. This paper utilises an innovative method, taken from economics, to offer unprecedented insights into the “surname space” of the Czech Republic. We construct this space as a network based on the pairwise probabilities of co-occurrence of surnames and find that the network representation has clear parallels with various ethno-cultural boundaries in the country. Our inductive approach therefore formalizes a simple assumption that the more frequently the bearers of two surnames concentrate in the same locations the higher the probability that these two surnames can be related (considering ethno-cultural relatedness, common co-ancestry or genetic relatedness, or some other type of relatedness). Using the Czech Republic as a case study this paper offers a fresh perspective on surnames as a quantitative data source and provides a methodology that can be easily incorporated within wider cultural, ethnic, geographic and population genetics studies already utilizing surnames.     

Genetic structure of Flores island (Azores, Portugal) in the 19th century and in the present day: evidence from surname analysis

The island of Flores is the most westerly of the Azores archipelago (Portugal). Despite its marked geographic isolation and reduced population size, biodemographic and genetic studies conducted so far do not support the idea that its population constitutes a genetic isolate. In this study we conducted a surname analysis of the Flores population for two time periods: the second half of the 19th century and the present day. Our main purposes were (1) to biodemographically and genetically characterize the island, taking into account the strong reduction in population observed from the middle of the 19th century to the present day; and (2) to analyze the influence that the effective population size and geographic distance have on the genetic structure of populations. For both periods analyzed, all indicators of diversity revealed a high level of surname diversity. Our results are in accordance with the diversity estimates obtained from both monoparental genetic markers located in the Y chromosome and frequencies of mtDNA haplogroups. Contrary to what could be expected, considering the strong reduction of population in the last 150 years, we observed that diversity was maintained and that microdifferentiation decreased. Both observations support a higher openness of parishes as a consequence of the increase in communication routes. From the first to the second period analyzed, a change in surname composition is evident, although the more frequent surnames in Flores are almost the same for both periods and some of them are reported to be surnames present in the first settlers of Flores. This result testifies to the impact of founders on the present-day gene pool of Flores island and allows us to infer that the genetic characterization of the present-day population of Flores could provide reliable information about the history of the peopling of the Azores.