Making Sense out of Y Chromosome Polymorphisms

Total Page:16

File Type:pdf, Size:1020Kb

Making Sense out of Y Chromosome Polymorphisms Making Sense out of Y Chromosome Polymorphisms Or why males are so complicated... Thomas Krahn Human Y Chromosome Basics ➔Only in males (exceptions) ➔Inherited in strict paternal line ➔About 58 million bases long ➔Only ~27 Mbases sequenced ➔Highly repetitive ➔Contains pseudo autosomal regions ➔Largest palindromes in human genome Large Scale ChrY Changes ➔Insertions / Deletions ➔Whole chromosome duplications ➔Ring Y chromosomes ➔Inversions ➔Translocations / Fusion chromosomes ➔ Peter H.Vogt: AZF deletions and Y chromosomal haplogroups Hum. ➔ Reprod. 11 (4): 319-336. doi: Microscopic karyotype 10.1093/humupd/dmi017 ➔FISH with target specific fluorescent probes ➔Male infertility ➔Gender determination Turner Syndrome 45,XO:46,XY:46XX = 50:30:20 (Sports / Olympics) Premi S, Srivastava J, Panneer G, Ali S, 2008 Startling Mosaicism of the Y-Chromosome and Tandem Duplication of the SRY and DAZ Genes in Patients with Turner Syndrome. PLoS ONE 3(11): e3796. doi:10.1371/journal.pone.0003796 Y Chromosome Repeats Y-STR (DYS19, DYS385, DYF399) Mini satellites (MSY) Inverted repeats Palindromes Multi palindromes Parallel repeats (TSPY) Y chromosomal variation tracks the evolution of mating systems in chimpanzee and bonobo. Schaller F, Fernandes AM, Hodler C, Münch C, Pasantes JJ, Rietschel W, Schempp W (2010) PLoS ONE 5(9): Peter H.Vogt: AZF deletions and Y chromosomal haplogroups e12482. doi:10.1371/journal.pone.0012482 Hum. Reprod. 11 (4): 319-336. doi: 10.1093/humupd/dmi017 Y-STR ➔Classical paternal line sibling test ➔Interesting for genealogists (surname correlation) ➔Isolation of a male profile from a mixed trace ➔No contamination problems with female lab personal ➔Ready made multiplex kits available (Powerplex Y, Yfiler, Argus Y) ➔Number of markers not sufficient for genealogists because they demand higher resolution Adding More Markers to PPY DYS426 and DYS388 are usually slow mutators, but in some haplogroups they suddenly increase mutation frequency. They have been in the FTDNA database right from the start but they are absent in the PPY kit. PPY has some gaps in JOE and TMR. Just enough to fill them with DYS426 and DYS388 More single copy Y-STRs ➔Quick & easy to score ➔Not severely influenced by recombination ➔Easy and understandable comparisons for genealogists ➔Plenty of Y-STRs published ➔Many of them have standardized nomenclature (NIST) ➔FTDNA was always market leader with number of Y-STR (12, 25, 37, 67 and 111 marker panel plus specialty Y-STR) ➔My goal was always to have ALL markers that the competitors had so that FTDNA customers could compare with all databases. Why So Many Y-STR? ➔Huge surname projects with 800+ family members ➔Find splits in closely related Y lines ➔Predict haplogroups from Y-STR haplotypes ➔Consistency checks across panels ➔Precisely map Y chromosome deletions Special STRs: Multi Copy Y-STR DYS725: Difficult to interpret dinucleotide repeat but just a few 100 bp next to DYS464 Good to verify unusual DYS464 results DYF408: 188 bp segment doesn't actually contain STR repeat units. Good to calibrate molar equivalents DYF397: Asymmetric P1/P3 palindromic Y-STR 2 copies on P1 and 2 copies on P3 Good to distinguish different deletions / duplications DYS385, DYS464, DYF399, DYS425, DYF408 DYS385 Kittler Protocol Kittler R, Erler A, Brauer S, Stoneking M, Kayser M (2003) Apparent intrachromosomal exchange on the human Y chromosome explained by population history. Eur. J. Hum. Genet. 11(4): 304-14. Using Adjacent SNPs to Separate Loci of Multicopy Y-STRs Fluorescein JOE TAMRA DYS464 Extended Test (DYS464X) Using Adjacent SNPs to Separate Loci of Multicopy Y-STRs Y h g r o u p D Y S 4 6 4 A 1 1 g - 1 3 g - 1 3 g - 1 6 g E 1 4 g - 1 5 . 3 g - 1 7 g - 1 8 g E 3 b 1 1 4 g - 1 5 . 3 g - 1 7 g - 1 8 g G 1 3 g - 1 4 g - 1 5 g - 1 5 g Typing of G 2 * 1 2 g - 1 2 g - 1 2 g - 1 3 g I 1 2 g - 1 4 g - 1 5 g - 1 6 g I 1 a 1 2 g - 1 4 g - 1 4 g - 1 6 g DYS464X I 1 a 3 1 2 g - 1 2 g - 1 4 g - 1 4 g - 1 5 g - 1 6 g Other haplogroups have I 1 b 1 1 g - 1 4 g - 1 4 g - 1 4 g only G-type alleles I 1 b 1 1 g - 1 4 g - 1 4 g - 1 5 g I 1 b 2 a 1 1 g - 1 4 g - 1 4 g - 1 5 g I 1 b 2 a 1 1 1 g - 1 1 g - 1 4 g - 1 5 g I 1 c 1 4 g - 1 5 g - 1 5 g - 1 6 g J 2 a 1 * 1 2 g - 1 3 g - 1 5 g - 1 6 g - 1 6 g - 1 6 g N 1 4 g - 1 4 . 3 g R 1 a 1 * 1 2 g - 1 5 g - 1 5 g - 1 6 g R 1 b 1 6 c - 1 6 c - 1 6 g - 1 6 g R 1 b 1 5 c - 1 6 c R 1 b 1 5 c - 1 5 c - 1 7 c - 1 7 g R 1 b 1 4 c - 1 6 c - 1 7 c - 1 7 g R 1 b 1 4 c - 1 5 c - 1 6 g - 1 7 c R 1 b 1 6 c - 1 6 g R 1 b 1 5 c - 1 5 c - 1 6 c - 1 6 g R 1 b 1 4 c - 1 5 c - 1 7 c - 1 7 g R1b has usually 3 C-type R 1 b 1 5 c - 1 6 c - 1 7 g - 1 7 g R 1 b 1 5 c - 1 6 c alleles and one G-type allele R 1 b 1 5 c - 1 5 c - 1 5 c - 1 5 c R 1 b 1 5 c - 1 5 c - 1 7 c - 1 7 g R 1 b 1 5 c - 1 7 c - 1 7 c - 1 8 g R 1 b 1 5 c - 1 5 c - 1 7 c - 1 8 g R 1 b 1 5 c - 1 5 c - 1 6 g - 1 7 c R 1 b 1 6 c - 1 6 c - 1 7 c - 1 7 g R 1 b 1 4 c - 1 5 c - 1 5 c - 1 5 g R 1 b 1 5 c - 1 5 c - 1 6 c - 1 8 g R 1 b 1 5 c - 1 5 c - 1 6 c - 1 7 . 1 g R 1 b 1 5 c - 1 5 c - 1 6 g - 1 7 c R 1 b 1 3 c - 1 5 c - 1 7 c - 1 7 g R 1 b 1 5 c - 1 5 c - 1 7 g - 1 7 g Exceptions most likely R 1 b 1 5 c - 1 6 c - 1 6 c - 1 8 g R 1 b 1 5 c - 1 5 c - 1 6 c - 1 7 c products of recLOH Palindromic Map RecLOH centromere 9 39 14 DYF371 DYF399 DYS464 N.N. DYF397 DYF401 DYF387 DYS459 DYF385 DYS724 C-type DYF408 T-type C-type DYS725 188 bp 188 bp P1 N.N. DYF397 DYF401 DYF387 DYS459 DYF385 DYS724 DYF371 DYF408 DYF399 DYS464 DYS725 C-type C-type C-type telomere 10 36 16 centromere 109 3936 1416 DYF371 DYF399 DYS464 N.N. DYF397 DYF401 DYF387 DYS459 DYF385 DYS724 C-type DYF408 T-type C-type DYS725 188 bp 188 bp P1 N.N. DYF397 DYF401 DYF387 DYS459 DYF385 DYS724 DYF371 DYF408 DYF399 DYS464 DYS725 C-type C-type C-type telomere 10 36 16 Recombination driven Loss Of Heterozygosity P1/P2 Deletion Mechanism Symmetry in the red/red (P1/P2) region allows for another irregular conformation: DYF397 P3 DYF397 DYF399 Recombination breakpoint ins G DYF399 T-type DYS464 DYS725 DYS725 DYS464 C-type DYF408 188 bp DYF399 DYS464G DYS725 DYS725 DYS464 T-type p b DYF408 8 N.N. 8 1 Circle conformation DYF371 DYF397 DYS724 DYF385 DYF387 DYF401 P1/P2 Deletion Mechanism The circular DNA molecule can't replicate on its own and gets lost in the next cell cycle DYF397 P3 DYF397 DYF399 ins G T-type DYS464 DYS725 DYS725 DYS464 DYF399 DYF408 188 bp DYF399 DYS464G DYS725 DYS725 DYS464 T-type p b DYF408 N.N. 8 8 1 Deletion DYF371 DYF397 DYS724 DYF385 DYS459 DYF387 DYF401 Special Y-STRs: DYS389 DYS389 I+II fusion repeat observed TCTG TCTA TCTG TCTA SNPs are also affected by ChrY Self- Recombination L88 region in haplogroup J-L26/L27 SNPs are also affected by ChrY Self- Recombination L88 region in haplogroup E-M2 SNPs are also affected by ChrY Self- Recombination ChrX ChrY L88 L88 region of highly similar ChrX sequence Y-SNPs and Haplogroups ➔Haplogroups are defined by “stable“ Y-SNPs ➔YCC haplogroup tree (most parsimonous tree) ➔Hundreds of refinements and additions ➔The same characteristic mutation often shows up in completely distinct branches of the tree (.2) ➔Parallel and back mutations happen in real life ➔Those can often be explained by recombination events Keeping Track of New Y-SNPs and Y Tree Changes ➔Ymap Y chromosome browser contains information about most published Y markers ➔Don't add new marker names when they already exist ➔Info about location, base change, primers, hg association and palindrome position ➔Based on gbrowse ➔Instantly synchronized with our LIMS db Http://ymap.ftdna.com Keeping Track of New Y-SNPs and Y Tree Changes ➔Ytree (Draft Y chromosome tree) ➔Node based structure http://ytree.ftdna.com ➔New SNPs found are instantly added ➔Automatically keeps a traceable change log Walk Through the Y Project 90 80 70 60 50 40 30 20 10 0 A B C D E F G H I J K L M N O P Q R S T Coverage (currently) ~ 200 kB Sanger sequences On average 1.2 new SNPs per participant found Verification and mapping of new mutations on Ytree 230 WTY participants from mainly European haplogroups Designing PCR Primers for ChrY Input Segments target location fastacmd +/- 500 bp preset P3 params.
Recommended publications
  • R1b-M343 (Xp312 Xu106) Y-STR Report
    R1b-M343 (xP312 xU106) Y-STR Report Dirk Struve May 21, 2017 Contents 1 Introduction1 2 About Y-STR markers2 3 Time estimates3 3.1 A word of caution.........................3 3.2 Method..............................4 3.3 Results...............................6 3.3.1 111 marker TMRCA estimates..............6 3.3.2 500 marker TMRCA estimates..............9 3.3.3 Towards genealogical time frames............ 13 3.3.4 Using only YFull results................. 16 4 Marker statistics 17 References 19 1 Introduction This document contains time estimates about the formation of clades and their TMRCAs (Time to Most Recent Common Ancestor) based upon Y- STR marker results reported by YFull and Family Tree DNA. You might ask yourself, why use STRs when YFull has already published a phylogenetic tree [15] with time estimates solely based on the stable SNP mutations. There are a variety of good reasons for this: 1 1. Different scientific methods can yield different results. It is good to calculate time estimates using independent methods. If different meth- ods yield the same results, we know that we can trust the methods. Otherwise we should be cautious and search for improvements. 2. Mutations happen by coincidence. There is always a statistical uncer- tainty. Using different methods can help to identify statistical outliers and improve the results. 3. Not all SNPs are suited for genealogical purposes. This could result in wrong time estimates. Even if YFull has carefully crafted it's method to exclude wrong SNPs [1], it is good to have a second method to verify their results. 4. STRs provide a higher time resolution than SNPs.
    [Show full text]
  • The Phylogenealogy of R-L21: Four and a Half Millennia of Expansion and Redistribution
    The phylogenealogy of R-L21: four and a half millennia of expansion and redistribution Joe Flood* * Dr Flood is a mathematician, economist and data analyst. He was a Principal Research Scientist at CSIRO and has been a Fellow at a number of universities including Macquarie University, University of Canberra, Flinders University, University of Glasgow, University of Uppsala and the Royal Melbourne Institute of Technology. He was a foundation Associate Director of the Australian Housing and Urban Research Institute. He has been administrator of the Cornwall Y-DNA Geographic Project and several surname projects at FTDNA since 2007. He would like to give credit to the many ‘citizen scientists’ who made this paper possible by constructing the detailed R1b haplotree over the past few years, especially Alex Williamson. 1 ABSTRACT: Phylogenealogy is the study of lines of descent of groups of men using the procedures of genetic genealogy, which include genetics, surname studies, history and social analysis. This paper uses spatial and temporal variation in the subclade distribution of the dominant Irish/British haplogroup R1b-L21 to describe population changes in Britain and Ireland over a period of 4500 years from the early Bronze Age until the present. The main focus is on the initial spread of L21-bearing populations from south-west Britain as part of the Beaker Atlantic culture, and on a major redistribution of the haplogroup that took place in Ireland and Scotland from about 100 BC. The distributional evidence for a British origin for L21 around 2500 BC is compelling. Most likely the mutation originated in the large Beaker colony in south-west Britain, where many old lineages still survive.
    [Show full text]
  • Reconstruction of the Lineage Y Chromosome Haplotype Of
    1Institute of Molecular Anthropology, 75005 Paris, France Abstract: As part of the Napoléon I Genome (NIG) project we have reconstructed, based on more than one hundred Y-STRs (Y-short tandem repeats), the complete Y-haplotype of the non-recombinant part of the Y-chromosome (NRY) of French Emperor Napoléon I (1769-1821). We already knew the allelic values at Y-markers of the Y- chromosome of Napoléon I, but only for the palindromic STR YCAIIa and b and for the non-palindromic Y-STR DYS19. The present reconstruction aims to compare the allelic values at Y-STRs of the DNA of Charles Napoléon (C.N.), the living 4th generation descendant of Jérôme Bonaparte (Napoléon I’s youngest brother), with those of Alexandre Colonna Walewski (A.C.W.), the living 4th generation descendant of Count Alexandre Walewski (the son born of the union between Napoléon I and Countess Maria Walewska). We have previously established that Napoléon I, C.N. and A.C.W. are of the same Y-haplogroup E1b1b1b2a1. The allelic values for C.N. and A.C.W. are the same for ninety-three other non-palindromic markers (belonging to ninety different STRs) and for thirty- eight other palindromic markers (belonging to fifteen different STRs); these values then constitute those deduced in the reconstruction of the allelic values of the STR markers of the Napoléon I’s Y-haplotype. Four non-palindromic STRs and two palindromic STRs have different allelic values in C.N. and A.C.W.; we have deduced the allelic value of Napoléon I for one (DYS454), and the probable allelic values for two (Y-GATA-C4 and DYS712) of these non- palindromic variable STRs.
    [Show full text]
  • R1b-M343 (Xp312 Xu106) Y-STR Report
    R1b-M343 (xP312 xU106) Y-STR Report Dirk Struve Dec 4, 2017 Contents 1 Introduction1 2 About Y-STR markers2 3 FTDNA and YFull results3 3.1 Differences between FTDNA and YFull.............3 3.2 How to merge...........................4 4 Time estimates5 4.1 A word of caution.........................5 4.2 Method..............................6 4.3 Results...............................8 4.3.1 111 marker TMRCA estimates..............8 4.3.2 500 marker TMRCA estimates.............. 13 4.3.3 Towards genealogical time frames............ 17 4.3.4 Using only YFull results................. 20 5 Marker statistics 22 References 24 1 Introduction This document contains time estimates about the formation of clades and their TMRCAs (Time to Most Recent Common Ancestor) based upon Y- STR marker results reported by YFull and Family Tree DNA. 1 You might ask yourself, why use STRs when YFull has already published a phylogenetic tree [16] with time estimates solely based on the stable SNP mutations. There are a variety of good reasons for this: 1. Different scientific methods can yield different results. It is good to calculate time estimates using independent methods. If different meth- ods yield the same results, we know that we can trust the methods. Otherwise we should be cautious and search for improvements. 2. Mutations happen by coincidence. There is always a statistical uncer- tainty. Using different methods can help to identify statistical outliers and improve the results. 3. Not all SNPs are suited for genealogical purposes. This could result in wrong time estimates. Even if YFull has carefully crafted it's method to exclude wrong SNPs [1], it is good to have a second method to verify their results.
    [Show full text]
  • Peter Gwozdz
    Peter Gwozdz comparison to the historical record is beyond the scope of this article. The first article in this two-part series developed a set of tools for the analysis of Y-STR data from groups of I use the conventional notation “Haplogroup R1a1” for related people (Gwozdz, 2009). The present article generally accepted SNP haplogroup clades, and the no- applies these tools to Polish Y-STR data. A number of tation “P type” for types that are introduced here, and specially defined terms are used in this article and they “Pc type” for subtypes. A “type” is as defined in Part I are defined in the companion article (Part I). of this two-part series of articles. Most of the types are presented as hypothetical subdivisions of Haplogroup Pawlowski (2002) identified a Y-STR haplotype that is R1a1 (R-M17 or R-M198), so the stem haplogroup is 15 times more common in Poland than in the rest of R1a1 if not specified. In this article I retain the R1a1 Europe. That haplotype, determined at nine STR mark- designation for Haplogroup R-M17 in order to be com- ers, represents 4.6% of Pawlowski’s Polish data. This patible with the reference data. It is the same haplo- haplotype, called “P type” here, is evidence of a domi- group currently designated as R1a1a (ISOGG, 2009). nant Y-DNA clade in a relatively recent Polish popula- The conventional asterisk (*) as used in the construction tion expansion. One purpose of this article is to add “R1a*” indicates those downstream subsets of R1a that evidence, and to estimate the size and age of the hypoth- are not in any presently defined sub-haplogroups of R1a.
    [Show full text]
  • Uniting the Time Scales of Genealogy and Genetics Using Correlation Techniques to Explore Y-DNA
    Uniting the Time Scales of Genealogy and Genetics Using Correlation Techniques to Explore Y-DNA -- William E. Howard III -- Version 24: 25 February 2014 Abstract: We have investigated the errors and uncertainties involved in the RCC correlation approach to the analysis of Y-DNA haplotypes using extensive mutation models with weighted DYS values. We conclude that: (1) there is no evidence that the observed RCC time scale, properly calibrated, cannot be used over time periods of at least 100,000 years; (2) that the ratio of the standard deviation to the RCC value at each mutation averages about 43 percent (SD = 4%) over times of genetic interest; (3) a correction (F>1) needs to be applied to observed values of RCC over genetic time intervals to account for backward mutations that are known to occur but cannot be observed; (4) the distribution of marker values as well as the Chandler average mutation rate over 37 markers is consistent with Poisson statistics, confirming that the distribution of mutations take place randomly; and (5) using an extrapolation of junction points on a Y-DNA STR phylogenetic tree, we are able to estimate the date of the progenitor of Haplotype A to about 100,000 years ago (est. SD ~ 30%) as well as the dates for other haplotypes and SNPs. We suggest error assignments that should be applied to pairs and groups of haplotypes and we present methods to estimate the time when the progenitor of a group lived. We investigate the error assignments to be made in the analysis of groups of haplotypes (e.g., in surname clusters and junction points on a dated Y-STR phylogenetic tree).
    [Show full text]
  • DYF399X Report
    David N. Ewing, M.D. January 29, 2009 DYF399X Report Note This page concerns only DYF399X in the Ewing Project and presupposes a working knowledge of the project and how its groups are organized. Links to our other Results Pages are available in the Results Directory, which can be reached through the link at the top of this page. If you are not acquainted with the Ewing Project, please start with the Help and Introduction links. Background DYF399X usually consists of three alleles of a very rapidly mutating marker in a palindromic region of the Y-chromosome, which makes it subject to recLOH events and much complicates interpretation. If you don’t understand this first sentence of the report, don’t feel like the Lone Ranger—me neither, really. At the end of this page under References, I have quoted an email from Thomas Krahn, a scientist with FtDNA, which gives a number of references for the more technically minded among you. For our purposes, it is sufficient to start with the understanding that DYF399X provides rapidly mutating markers that may help us differentiate branches within the large closely related group of Ewings. DYF399X will only be helpful to men who have already identified a group of genetically closely related men for which they are trying to get better genetic branch resolution. For the Ewing Project, this means that it could be helpful for members of any of the subgroups of Groups 1, and 2 to have this test. It would not be much help for members of Groups 3, 4 and 5—at least not until some larger clusters have been identified within these groups.
    [Show full text]
  • HIS NAME IS MY NAME TOO a Y‐DNA STUDY of the OWSTON SURNAME and ITS VARIANTS James M
    HIS NAME IS MY NAME TOO A Y‐DNA STUDY OF THE OWSTON SURNAME AND ITS VARIANTS James M. Owston, EdD Draft Version 6.2 5 February 2012 The Owston One‐Name Study is registered with the The author is a member of the ABSTRACT In 1990, three family researchers had the fortune of discovering each other nearly simultaneously and began sharing information that became the basis of this study. While nearly all discovered Owstons and Oustons could be traced to one of three families having their origins in the original East Riding of Yorkshire, there was no evidence proving that familial connections existed among the three groups. These families originated in Ganton, Sherburn, and Thornholme in the parish of Burton Agnes. By utilizing Y-DNA testing at 43 markers, this study sought to discover if the three families could be linked genealogically, although traditional records signifying such did not exist. If connected, it would likely to have been prior to the adoption of English parish registers in 1538. Although the study is ongoing, preliminary reports link members of all three families to a common ancestor in the past. Seven of the 10 original participants share common markers of the I1 haplogroup. Of the remaining three participants, two Thornholme subjects did not match anyone else. Since genealogical data has a confirmed paper trail to the earliest known ancestor of the Thornholme family, it has been determined that non-paternity events occurred in these two lines. In addition, one Sherburn family member did not match any other participant due to an adoption in his ancestral line.
    [Show full text]
  • RJGG of the Genetic Legacy of the Mongols
    The Russian Journal of Genetic Genealogy (Русская версия): Том 4, №2, 2012 год ISSN: 1920-2997 http://ru.rjgg.org © Все права защищены RJGG The Genetic Origin Kherlen Batbayar of the Turko-Mongols and Review Zhaxylyk M. Sabitov of The Genetic Legacy of the Mongols. Part 1: The Y-chromosomal Lineages of Chinggis Khan Abstract Batu-Mungke Dayan Khan, a direct descendant of Chinggis Khan (commonly known as Genghis Khan) proved himself to be one of the most influential and powerful rulers in Mongolian history. After experiencing decades of East and West Mongolian political strife and incessant battling, Dayan Khan became the sole survivor of Chinggis Khan’s lineage in Mongolia Proper. Chinggis Khan raised five sons, all of whom reached adulthood. Besides Dayan Khan’s descendants residing in Mongolia Proper, only two other offspring of Chinggis Khan’s family line prevailed in the Central Asian countries of Kazakhstan and Uzbekistan. These two lineages’ modal haplotypes belong to haplogroup C3 under different subgroups. However, according to a genetic research study, The Genetic Legacy of the Mongols, Chinggis Khan’s descendants number approximately 16 million. One may only hypothes- ize that this calculation is unreasonably inaccurate when studying both the historical and genetic, or genealogical, points-of-view. In this study, we have determined Batu-Mungke Dayan Khan’s haplotype by analyzing 12 Y- chromosomal STR loci of seven surviving elders of the House of Dayan Khan. Our findings differ significantly from those provided in The Genetic Legacy of Mongols. Chinggis Khan’s three surviving lineages’ Y-chromosome DNA test results suggest the near-extinction, not the proliferation, of the direct male descendant line of Chinggis Khan.
    [Show full text]
  • Phasing the Chromosomes of a Family Group When One Parent Is
    Journal of Genetic Genealogy, 6(1), 2010 Towards improvements in y-DNA Surname Project Administration James M. Irvine Abstract This paper surveys a sample of 12 y-DNA surname projects, selected to reflect a variety of features, with the objective of identifying some possible learning points for amateur project administrators. The survey identifies a wide variety of procedures now being used in administering such projects. Many of these variations appear to reflect differing opportunities and constraints for individual projects that are determined by surname size. The paper develops three inter-related issues directly arising from the survey. First, means for relating project size to surname size are explored. It is shown that few projects exceed a “penetration” ratio of more than 0.1% of y-DNA tests per head of population, and that this ratio may be an inverse function of surname size. Measures are also developed to relate old world/new world ratios of surname populations and participants‟ places of residence; from these a crude measure of any geographical bias in individual projects is developed. Second, the survey identifies a diversity of the “rules of thumb” presently used for determining genetic “closeness,” and a case is made for moving on from genetic distance criteria that give equal weight to all markers to a criterion that takes account of differing mutation rates, such as some TiP parameter. Third, the difficulties in identifying and handling the sensitive subject of Non Paternal Events (NPEs) are addressed. A case made for differentiating between introgressive- and egressive-NPEs, and it is shown that most projects probably underestimate this phenomenon.
    [Show full text]
  • The Comments Below Apply to the Currently Available Y Chromosome Marker Results Pertaining to the Low German Mennonite DNA Project
    Mennonite DNA Project Y Chromosome Data Discussion by Tim Janzen: January 2021 [email protected] The Low German Mennonite DNA Project Y chromosome data is available for download as an Excel spreadsheet. The headings are self-explanatory. There is a dark gray row between each surname. Thick black lines separate the various subgroups within surnames if there is more than one progenitor for that surname. In a few cases, it is unclear if a haplotype belongs in a specific subgroup. In such cases there is a question mark after the number in the subgroup column. Y chromosome STR marker values that are different from the modal value are highlighted in yellow. In such situations, a mutation has occurred within the past 500 years or so in one of the lineages from the original progenitor of that surname or subgroup. If the earliest known ancestors were known to be brothers the names of the brothers are highlighted in blue. The FTDNA kit numbers for new participants since the last update a year ago are highlighted in green. In some situations there is additional information for some multi-copy markers such as DYS459, DYS 464, and CDY on the Family Tree DNA website that is not included in the spreadsheet and the cells in the spreadsheet are highlighted in brown where this is the case. The information wasn’t included in the spreadsheet for simplicity, but the data can be found in the project’s website at https://www.familytreedna.com/public/menno/default.aspx?section=yresults after any project member has logged into the FTDNA website.
    [Show full text]
  • Null Alleles in Genetic Genealogy 0
    Null Alleles in Genetic Genealogy 0 Thomas Krahn FTDNA Conference 2009 Definition of Null Allele ● Original meaning: A mutant copy of a gene that completely lacks that gene's normal function. (Wikipedia) DNA Gene Promotor Transcription RNA Polymerase mRNA Not a sharp definition. Splicing Many things can go wrong in the complex gene Translation expression process. Protein Ribosomes Definition of Null Allele ● Concerning DNA markers: A DNA segment of good quality, limited to the two primer pairs of a PCR reaction that doesn't yield a PCR product in some biological samples while all other samples of that kind show a clearly detectable signal with the same PCR reaction. Note: This is my own definition. Other definitions I found in the literature and on the internet usually focus on a very narrow subtype of a DNA segment. E.g. STR markers. Definition of Null Allele ● Concerning DNA markers: A DNA segment of good quality, limited to the two primer pairs of a PCR reaction that doesn't yield a PCR product in some biological samples while all other samples of that kind show a clearly detectable signal with the same PCR reaction. For a PCR reaction we need a solution of intact DNA. Degraded (sheared) DNA cannot be amplified because the TAQ polymerase needs to extend one DNA strand down until the reverse primer. If the TAQ drops off from the DNA segment before it reaches the reverse primer we will not get an exponential amplification. Since degraded DNA doesn't represent a species who can have descendants, we exclude degraded DNA from being a Null Allele for genealogical purpose.
    [Show full text]