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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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Journal ArticleDOI
TL;DR: It is now possible to use selected, slowly evolve polymorphisms to draw a rudimentary Y chromosome tree, while more rapidly evolving polymorphisms allow most independent Y chromosomes to be distinguished.

369 citations

Journal ArticleDOI
TL;DR: It is estimated that the spread of Y chromosomes out of Africa is much more recent than previously was thought, and the data indicate substantial population growth in the effective number of human Y chromosomes.
Abstract: We consider a data set of DNA sequence variation at three Y chromosome genes (SMCY, DBY, and DFFRY) in a worldwide sample of human Y chromosomes. Between 53 and 70 chromosomes were fully screened for sequence variation at each locus by using the method of denaturing high-performance liquid chromatography. The sum of the lengths of the three genes is 64,120 bp. We have used these data to study the ancestral genealogy of human Y chromosomes. In particular, we focused on estimating the expected time to the most recent common ancestor and the expected ages of certain mutations with interesting geographic distributions. Although the geographic structure of the inferred haplotype tree is reminiscent of that obtained for other loci (the root is in Africa, and most of the oldest non-African lineages are Asian), the expected time to the most recent common ancestor is remarkably short, on the order of 50,000 years. Thus, although previous studies have noted that Y chromosome variation shows extreme geographic structure, we estimate that the spread of Y chromosomes out of Africa is much more recent than previously was thought. We also show that our data indicate substantial population growth in the effective number of human Y chromosomes.

350 citations

01 Jan 1997
TL;DR: The authors identified anewT-ICtransition on the human Ychromosome and found that C-allele chromosomes have been found only in a subset of the populations from Asia and Northern Europe and reach their highest frequencies inYakut, Buryats, and Finns.
Abstract: Summary Wehaveidentified anewT-ICtransition onthehuman Ychromosome. C-allele chromosomes havebeenfound only inasubset ofthepopulations fromAsia andnorthernEurope andreach their highest frequencies inYakut, Buryats, andFinns. Examination ofthemicrosatellite haplotypes oftheC-allele chromosomes suggests that themutation occurred recently inAsia. TheYchromosomethus provides bothinformation about population relationships inAsiaandevidence forasubstantial paternal genetic contribution ofAsians tonorthern Europeanpopulations suchastheFinns.

279 citations

Journal ArticleDOI
TL;DR: Estimates suggest that microsatellites on the Y chromosome have mutation frequencies comparable to those on the autosomes, which supports the hypothesis that slippage-generated growth is the driving force behind the microsatellite variability.
Abstract: Recently, a set of highly polymorphic chromosome Y specific microsatellites became available for forensic, population genetic and evolutionary studies. However, the lack of a mutation frequency estimate for these loci prevents a reliable application. We therefore used seven chromosome Y tetranucleotide repeat loci to screen 42 males who are descendants from 12 'founding fathers' by a total number of 213 generations. As a result, we were able to estimate an average chromosome Y tetranucleotide mutation frequency of 0.20% (95% CIL 0.05-0.55). This closely matches the often cited Weber and Wong estimate of 0.21% for a set of autosomal tetranucleotide repeats. Expanding the set of microsatellites with two more loci (a tri- and a penta-nucleotide repeat locus) an average chromosome Y microsatellite mutation frequency of 0.21% (95% CIL 0.06-0.49) was found. These estimates suggest that microsatellites on the Y chromosome have mutation frequencies comparable to those on the autosomes. This supports the hypothesis that slippage-generated growth is the driving force behind the microsatellite variability.

275 citations