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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 Article
TL;DR: The Y chromosome provides both information about population relationships in Asia and evidence for a substantial paternal genetic contribution of Asians to northern European populations such as the Finns.
Abstract: The is the version as published in the American Journal of Human Genetics by the University of Chicago Press. Their website is http://www.journals.uchicago.edu/AJHG/home.html

272 citations

Journal ArticleDOI
TL;DR: The reference database of highly informative Y-chromosomal short tandem repeat (STR) haplotypes (YHRD), available online at http://ystr.charite.de, represents the largest collection of male-specific genetic profiles currently available for European populations.

252 citations

Journal ArticleDOI
05 Nov 1998-Nature
TL;DR: The molecular findings fail to support the belief that Thomas Jefferson was Thomas Woodson's father, but provide evidence that he was the biological father of Eston Hemings Jefferson.
Abstract: There is a long-standing historical controversy over the question of US President Thomas Jefferson's paternity of the children of Sally Hemings, one of his slaves1,4. To throw some scientific light on the dispute, we have compared Y-chromosomal DNA haplotypes from male-line descendants of Field Jefferson, a paternal uncle of Thomas Jefferson, with those of male-line descendants of Thomas Woodson, Sally Hemings' putative first son, and of Eston Hemings Jefferson, her last son. The molecular findings fail to support the belief that Thomas Jefferson was Thomas Woodson's father, but provide evidence that he was the biological father of Eston Hemings Jefferson.

221 citations

Journal ArticleDOI
TL;DR: Results based on a study of Y-chromosome diallelic and microsatellite variation in 181 Icelanders, 233 Scandinavians, and 283 Gaels from Ireland and Scotland indicate closer matrilineal links with populations of the British Isles, which supports the model, put forward by some historians, that the majority of females in the Icelandic founding population had Gaelic ancestry.
Abstract: We present findings based on a study of Y-chromosome diallelic and microsatellite variation in 181 Icelanders, 233 Scandinavians, and 283 Gaels from Ireland and Scotland. All but one of the Icelandic Y chromosomes belong to haplogroup 1 (41.4%), haplogroup 2 (34.2%), or haplogroup 3 (23.8%). We present phylogenetic networks of Icelandic Y-chromosome variation, using haplotypes constructed from seven diallelic markers and eight microsatellite markers, and we propose two new clades. We also report, for the first time, the phylogenetic context of the microsatellite marker DYS385 in Europe. A comparison of haplotypes based on six diallelic loci and five microsatellite loci indicates that some Icelandic haplogroup-1 chromosomes are likely to have a Gaelic origin, whereas for most Icelandic haplogroup-2 and -3 chromosomes, a Scandinavian origin is probable. The data suggest that 20%-25% of Icelandic founding males had Gaelic ancestry, with the remainder having Norse ancestry. The closer relationship with the Scandinavian Y-chromosome pool is supported by the results of analyses of genetic distances and lineage sharing. These findings contrast with results based on mtDNA data, which indicate closer matrilineal links with populations of the British Isles. This supports the model, put forward by some historians, that the majority of females in the Icelandic founding population had Gaelic ancestry, whereas the majority of males had Scandinavian ancestry.

207 citations

Journal ArticleDOI
TL;DR: Twenty loci containing a stretch of eight or more repeat units with complete repeat sequence homo-geneity were found, 18 of which were novel and will replace more biased and technically demanding indirect methods for the isolation of microsatellites.
Abstract: 1.33 Mb of sequence from the human Y chromosome was searched for tri- to hexanucleotide microsatellites. Twenty loci containing a stretch of eight or more repeat units with complete repeat sequence homogeneity were found, 18 of which were novel. Six loci (one tri-, four tetra- and one pentanucleotide) were assembled into a single multiplex reaction and their degree of polymorphism was investigated in a sample of 278 males from Pakistan. Diversities of the individual loci ranged from 0.064 to 0.727 in Pakistan, while the haplotype diversity was 0.971. One population, the Hazara, showed particularly low diversity, with predominantly two haplotypes. As the sequence builds up in the databases, direct methods such as this will replace more biased and technically demanding indirect methods for the isolation of microsatellites.

193 citations