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Journal ArticleDOI

In the name of the father: surnames and genetics

01 Jun 2001-Trends in Genetics (Elsevier)-Vol. 17, Iss: 6, pp 353-357
TL;DR: Recent studies involving Y-chromosomal haplotyping and surname analysis are promising and indicate that genealogists of the future could be turning to records written in DNA, as well as in paper archives, to solve their problems.
About: This article is published in Trends in Genetics.The article was published on 2001-06-01. It has received 191 citations till now. The article focuses on the topics: Patronymic surname.
Citations
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Journal ArticleDOI
TL;DR: The availability of the near-complete chromosome sequence, plus many new polymorphisms, a highly resolved phylogeny and insights into its mutation processes, now provide new avenues for investigating human evolution.
Abstract: Until recently, the Y chromosome seemed to fulfil the role of juvenile delinquent among human chromosomes — rich in junk, poor in useful attributes, reluctant to socialize with its neighbours and with an inescapable tendency to degenerate. The availability of the near-complete chromosome sequence, plus many new polymorphisms, a highly resolved phylogeny and insights into its mutation processes, now provide new avenues for investigating human evolution. Y-chromosome research is growing up.

917 citations

Journal ArticleDOI
TL;DR: A simple set of rules was developed to unambiguously label the different clades nested within a single most parsimonious phylogeny, which supersedes and unifies past nomenclatures and allows the inclusion of additional mutations and haplogroups yet to be discovered.
Abstract: The Y chromosome contains the largest nonrecombining block in the human genome. By virtue of its many polymorphisms, it is now the most informative haplotyping system, with applications in evolutionary studies, forensics, medical genetics, and genealogical reconstruction. However, the emergence of several unrelated and nonsystematic nomenclatures for Y-chromosomal binary haplogroups is an increasing source of confusion. To resolve this issue, 245 markers were genotyped in a globally representative set of samples, 74 of which were males from the Y Chromosome Consortium cell line repository. A single most parsimonious phylogeny was constructed for the 153 binary haplogroups observed. A simple set of rules was developed to unambiguously label the different clades nested within this tree. This hierarchical nomenclature system supersedes and unifies past nomenclatures and allows the inclusion of additional mutations and haplogroups yet to be discovered.

797 citations

Journal ArticleDOI
TL;DR: Improvements in genotyping technologies have led to the increased use of genetic polymorphism for inference about population phenomena, such as migration and selection, which presents a challenge in analysis of polymorphism data.
Abstract: Improvements in genotyping technologies have led to the increased use of genetic polymorphism for inference about population phenomena, such as migration and selection. Such inference presents a challenge, because polymorphism data reflect a unique, complex, non-repeatable evolutionary history. Traditional analysis methods do not take this into account. A stochastic process known as the 'coalescent' presents a coherent statistical framework for analysis of genetic polymorphisms.

677 citations


Cites background from "In the name of the father: surnames..."

  • ...This is sometimes true, for example, when Y chromosomes are used to study patrilineal inheritance of surname...

    [...]

Journal ArticleDOI
TL;DR: For example, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases as mentioned in this paper.
Abstract: Sherlock Holmes said "it has long been an axiom of mine that the little things are infinitely the most important", but never imagined that such a little thing, the DNA molecule, could become perhaps the most powerful single tool in the multifaceted fight against crime. Twenty years after the development of DNA fingerprinting, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases.

548 citations

BookDOI
29 Nov 2004
TL;DR: The Frequentist Approaches Bayesian Approaches Statistical Evaluation of Mixtures Low Copy Number and Interpretation Issues Associated with DNA Databases are discussed.
Abstract: Biological Basis for DNA Evidence, Peter Gill and John Buckleton Historical and Background Biology Understanding PCR Profiles A Framework for Interpreting Evidence, John Buckleton The Frequentist Approach The Logical Approach The Full Bayesian Approach A Possible Solution A Comparison of the Different Approaches Population Genetic Models, John Buckleton Product Rule Simulation Testing Discussion of the Product Rule and the Subpopulation Model A Complex Case Example - DNA Evidence and Orethral James Simpson Relatedness, John Buckleton and Christopher Triggs Conditional Probabilities Joint Probabilities The Unifying Formula The Effect of Linkage Validating Databases, John Buckleton Which Is the Relevant Population? Population Databases Validating the Population Genetic Model Estimating Q Descriptive Statistics for Databases Sampling Effects, John Buckleton and James Curran Bounds and a Level Methods for Assessing Sampling Uncertainty Minimum Allele Probabilities Discussion of the Appropriateness of Sampling Uncertainty Estimates Mixtures, Tim Clayton and John Buckleton Frequentist Approaches Bayesian Approaches Statistical Evaluation of Mixtures Low Copy Number, John Buckleton and Peter Gill Changes in LCN Profile Morphology The Interpretation of LCN Profiles Non-autosomal Forensic Markers, Simon Walsh, SallyAnn Harbison, and John Buckleton Forensic Mitochondrial DNA Typing Forensic Y Chromosome Analysis Forensic X Chromosome Analysis A Famous Case Example - The Romanovs Parentage Testing, John Buckleton, Tim Clayton, and Chris Triggs Evaluation Of Evidence Paternity Trios: Mother, Child and Alleged Father Non-autosomal DNA Use of the Sub-Population Model of Balding and Nichols to Evaluate the Paternity Index Relatedness in Paternity Cases Multiple Children Inconsistencies in the Mendelian Pattern 'Exclusions' Paternity Trios: Mother, Child and Alleged Father Considering the Possibility of Silent (Null) Alleles Disaster Victim Identification, Identification of Missing Persons, and Immigration Cases, John Buckleton, Chris Triggs, and Tim Clayton Mitochondrial or Nuclear DNA? Human Remains - Obtaining a Profile from Bodily Remains Extraction of DNA from Bone, Tooth, Hair and Nail Complicating Factors DNA Intelligence Databases, Simon Walsh and John Buckleton A Brief History Functional Aspects Legislation Aspects of Forensic Significance Social and ethical considerations Interpretation Issues Associated with DNA Databases

362 citations

References
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Book
01 Jan 1990
TL;DR: The evolution of hereditary surnames locative and topographical surnames surnames derived from personal names occupational surnames surname derived from nicknames some general themes in the history of surnames and local history advice on further reading as discussed by the authors.
Abstract: The evolution of hereditary surnames locative and topographical surnames surnames derived from personal names occupational surnames surnames derived from nicknames some general themes in the history of surnames surnames and local history advice on further reading.

26 citations

Journal Article
TL;DR: The early work of Kamizaki, who independently discovered many of the principles of isonymy, is reviewed and the history and frequency of names and the system of name transmission is presented.
Abstract: In 1972, when the population of Japan was about 100 million, there were 120,000 surnames. Some features of this enormous list of names are: the 100 most common names make up 37% of the population and 5000 names include 92%; the three most common names in order are Sato, Suzuki, and Takahasi; a name has an average of two homonyms because Japanese surnames usually have two or three Chinese symbols and a sound can often by symbolized in more than one way; 90% of the surnames can be expressed by combinations of 300 Chinese letters; altogether, some 3500 Chinese letters are in use for Japanese surnames; and an average of two or three random pairs per thousand share the same surname. A brief history of surnames in Japan is also included for those who do not have access to Japanese references. Remote ancestry that cannot be traced by interview or koseki has been studied by isonymy. The early work of Kamizaki, who independently discovered many of the principles of isonymy, is reviewed. Geneticists have been interested in two aspects of surnames as genetic indicators. The first is that transmission of a name simulates Y chromosome inheritance in a regular patrilineal society. In a matrilineal system, children take the name that would be associated with the maternal W chromosome if the female were heterogametic. Interest in surnames gave rise to early theoretical studies, such as the Galton-Watson process (Galton, 1889). The extinction of surnames (Lotka, 1931) is closely related to the genetic problem of the extinction of a mutant gene (Haldane, 1927; Fisher, 1930; Kojima and Kelleher, 1962). The second aspect is the relationship between identity of surnames of spouses and their genetic relationship. Actually, the parallelism between paternally inherited genetic characters and names was first recognized by G. Darwin (1875), who estimated the frequency of first cousin marriages from the proportion of isonymous unions. The elaboration by Crow and Mange (1965) of the idea that the degree of inbreeding could be calculated from the frequency of marriage between persons of the same surname led to a series of population studies (Lasker, 1968; Hussels, 1969; Morton and Hussels, 1970; Yasuda and Furusho, 1971a, b; Rawling, 1973; Friedl and Ellis, 1974; Roberts and Rawling, 1974; Ellis and Friedl, 1976; Bhalla and Bhatia, 1976; Ellis and Starmer, 1978; Crow, 1980; Kashyap, 1980; Kashyap and Tiwari, 1980; Roberts, 1980). 1Division of Genetics, National Institute of Radiological Sciences, Chiba 260 Japan Human Biology , May 1983 , Vol. 55, No. 2, pp. 263-276. © Wayne State University Press , 1983 This content downloaded from 207.46.13.21 on Tue, 27 Sep 2016 04:57:36 UTC All use subject to http://about.jstor.org/terms 264 Norikazu У asuda This paper reviews studies of surnames in Japan. Because of its being an island country in the Far East, most analyses in Japan have been directed at assessing remote ancestries that could not be traced by the investigator. In fact, Kamizaki (1954) calculated the expected frequency of isonymy among various degrees of relatives without knowledge of the inbreeding coefficient, and anticipated some of the results independently rediscovered by Crow and Mange (1965). A brief summary of Japanese surnames will be presented with special reference to the history and frequency of names and the system of name transmission. A History of Japanese Surnames When a few relatives lived in an isolated group with the same life style it was not necessary for the group to have a name. However, the gradual expansion of group sizes led to contact with other groups, and names were necessary to distinguish one from another. The group or clan name was called kabane or sei and was borne by hereditary right or as a privilege granted by the imperial court of ancient Japan. The names were few in number and usually were the same as an ordinary family name. A directory of newly selected clan names ( Sinsen-syojiroku ) began in 815. It listed the names of 1182 clans in the area of the then political center of Japan, now called Nara-ken and Osaka-fu. In those days this area had about 9% of the estimated 5.5 million population in all the Japanese islands (Suda, 1969). At that time, a strong central court ( yamato chotei) ruled Japan and established codes of law and ethics. The first household name record, or koseki ( kogo-no-nenjaku ), was established in 670 and thereafter for five centuries was regularly revised every six years. The surname (uji or myoji) was used for families or relatives within a group, and eventually the distinction between kabane and uji disappeared. Until 1870 family names were borne only by court nobles ( kuge ), military classes (samurai), feudal lords ( daimyo ), and such craftsmen and others of lower rank who were given names as a special privilege. Others chose names indicative of their trade, such as yaoyo (greengrocer) or hyakusho (farmer). Surnames were rarely given to women. Beginning at the end of the 12th century, the governing classes gradually started to prohibit any official uses of family names by common people in order to strengthen the status difference. Ordinary people could keep their names only in a clandestine fashion. It was not until the Meiji reformation in 1868 that the government removed these restrictions and This content downloaded from 207.46.13.21 on Tue, 27 Sep 2016 04:57:36 UTC All use subject to http://about.jstor.org/terms Surnames as Biological Markers 265 introduced a modern nationwide system of household records ( koseki ) in order to know precisely the numbers of men eligible for service and of taxable households. This koseki is now called jinsin-koseki, and was first compiled in 1871. Some people, however, did not give themselves names or register with the koseki to avoid taxes, service obligations, or reproof. In 1875 the Meiji government announced (Cabinet Decree No. 22) that a name was mandatory for everyone. As a result, the number of surnames, which had been about 30,000 in a Japanese population of about 25-30 million, suddenly increased more than threefold. A study of the jinsin-koseki shows that in 1873 there were 409,467 households of the former aristocracy and 6,561,914 of the general public (Watanabe, 1980). Although some of the general population and of course all the governing classes already had names, the great majority of households 16 times the number of those already named had to find names. How were the people able to manage this? Some households asked their village headman or an educated person to give them a name, often his own. Some were named by koseki officers. Some took a name indicative of their trade (i yago ), like Komeya (rice shop). Some families resurrected the names of ancient ancestors. Some took names at random, such as a trademark for tea, names of groceries and fish, or whatever came to mind. Some chose their name in adoration of noble names. Creed also played a role. For example, the common surnames, Suzuki, Takahasi, and Yamamoto, came from servants of farmers gods. The name Suzuki came from a Shinto priest or guardian of the place where the images of the farmer's gods were enshrined. Takahasi came from waiters of the Emperor ( Tenno ) who were believed to convey food from the gods to the people. Yamamoto came from people who lived at the base of the mountain where they welcomed the gods descending from the summit. The most common practice was the taking of names already in use by the nobility. Ultimately, most Japanese names are related to a geographic location; 90% can be traced to the names of places (Niwa, 1981). Since about 1875, names have been transmitted regularly from parent to child. A child legally acquires a surname at birth. Ordinarily a child takes the name of the father, but in some circumstances the mother s name is taken. Illegitimate children usually take the name of the mother. The only exception is a rare foundling of unknown parents, whose name is given by the magistrate where the child was found. Japanese family registration law (see Ohkura, 1960, and Yanase, 1962) states that a couple shall This content downloaded from 207.46.13.21 on Tue, 27 Sep 2016 04:57:36 UTC All use subject to http://about.jstor.org/terms

13 citations

Journal ArticleDOI
TL;DR: A large pedigree with a satellited Yq chromosome is described, Q, C, and NOR banding were performed and Family C proband suffers from a Klinefelter syndrome.
Abstract: A large pedigree with a satellited Yq chromosome is described, Q, C, and NOR banding were performed. Family C proband suffers from a Klinefelter syndrome.

12 citations