Maternal and paternal lineages of the Samaritan isolate: Mutation rates and time to most recent common male ancestor

Annals of Human Genetics

Volumn 67, Issue 2, 2003, Pages 153-164

  Bonné Tamir, Batsheva ^a   Korostishevsky, M ^a   Redd, A J ^b   Pel Or, Y ^a   Kaplan, M E ^b   Hammer, M F ^b  

^a TEL AVIV UNIVERSITY   (Israel)

^b UNIVERSITY OF ARIZONA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE ISOLATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENEALOGY; GENETIC VARIABILITY; HAPLOIDY; HAPLOTYPE; HUMAN; MALE; MUTATION RATE; PALESTINE; PEDIGREE ANALYSIS; POINT MUTATION; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SINGLE STRAND CONFORMATION POLYMORPHISM; STATISTICAL ANALYSIS; Y CHROMOSOME; EVOLUTION; FATHER; GENETIC POLYMORPHISM; GENETICS; MOTHER; MUTATION; PHYLOGENY; POLYMERASE CHAIN REACTION; THEORETICAL MODEL; TIME;

CHROMOSOMES, HUMAN, Y; DNA, MITOCHONDRIAL; EVOLUTION; FATHERS; FEMALE; HAPLOIDY; HAPLOTYPES; HUMANS; MALE; MODELS, THEORETICAL; MOTHERS; MUTATION; PHYLOGENY; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TIME FACTORS;

EID: 0141993289     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.2003.00024.x     Document Type: Article

References (49)

1. Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M. & Howell, N. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23, 147.
2. Bianchi, N. O., Catanesi, C. I., Bailliet, G., Martinez-Maringnac, V. L., Bravi, C. M., Vidal-Rioja, L. B., Herrera, R. et al. (1998) Characterization of ancestral and derived Y chromosomal haplotypes of new world populations. Am J Hum Genet 63, 1862-1871.
3. Bonné-Tamir, B. (1963) The Samaritans: a demographic study. Hum Biol 35, 61-89.
4. Bonné-Tamir, B. (1966a) Genes and phenotypes in the Samaritan isolate. Am J Phys Anthrop 24, 1-19.
5. Bonné-Tamir, B. (1966b) Are there Hebrews left? Am J Phys Anthrop 24, 134-145.
6. Bonné-Tamir, B. (1980) The Samaritans: a living ancient isolate, In: Population Structure and Genetic Disorders (eds Eriksson A. W., Forsius H. R., Nevallina H. R., Workman P. L., Norio R. K.), pp 27-41, London: Academic press.
7. Brinkmann, B., Klintschar, M., Neuhuber, F., Hühne, J. & Rolf, B. (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62, 1408-1415.
8. Cann, R. L., Stoneking, M. & Wilson, A. C. (1987) Mitochondrial DNA and human evolution. Nature 325, 31-36.
9. Cazes, M. H. & Bonné-Tamir, B. (1984) Genetic evolution of the Samaritans. J. of Biosoc 16, 177-187.
10. Comas, D., Paabo, S. & Bertranpetit, J. (1995) Heteroplasmy in the control region of human mitochondrial DNA. Genome Research 5, 89-90.
11. Frenkel-Arons, N., Korostishevsky, M., Pel-Or, Y., Berry, A., Woolf, R., Hillel, Y., Livshits, G., Bonné-Tamir, B. (2000) Mitochondrial DNA variation in Mediterranean populations. Third Symposium on Human Genetics in the Post-Genomic Age, Maagan, Israel. Abstract P50.
12. Gini, C. (1933) I Samaritani. Genus 1, 117-146.
13. Hammer, M. F. & Zegura, S. L. (1996) The role of the Y chromosome in human evolutionary studies. Evol Anthropol 5, 116-134.
14. Hammer, M. F., Redd, A. J., Wood, E. T., Bonner, M. R., Jarjanazi, H., Karafet, T. M., Santachiara-Benerecetti, S., Oppenheim, A., Jobling, M. A., Jenkins, T., Ostrer, H. & Bonné-Tamir, B. (2000) Jewish and middle eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes. Proc Nat Acad Sci USA 97, 6769-6774.
15. Hammer, M. F., Karafet, T. M., Redd, A. J., Jarjanazi, H., Santachiara-Benerecetti, S., Soodyall, H. & Zegura, S. L. (2001) Hierarchical patterns of global human Y-chromosome diversity Mol Biol and Evol 18, 1189-1203.
16. Hauswirth, W. W. & Clayton, D. A. (1985) Length heterogeneity of a conserved displacement-loop sequence in human mitochondrial DNA. Nucleic Acids Res 13, 8093-8104.
17. Helgason, A., Siguroardóttir, S., Gulcher, J. R., Ward, R. & Stefansson, K. (2000) MtDNA and the origin of the Icelanders: deciphering signals of recent population history. Am J Hum Genet 66, 999-1016.
18. Heyer, E., Puymirat, J., Dielties, P., Bakker, E. & de Knijff, P. (1997) Estimating Y chromosome specific rnicrosatellite mutation frequencies using deep rooting pedigrees. Hum Molecular Genet 6, 799-803.
19. Heyer, E., Zietkiewicz, E., Rochowski, A., Yotova, V., Puymirat, J. & Labuda, D. (2001) Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees. Am J Hum Genet 69, 1113-1126.
20. Howell, N., Kubacka, I. & Mackey, D. A. (1996) How rapidly does the human mitochondrial genome Evolve? Am J Hum Genet 59, 501-509.
21. Howell, N. & Smejkal, C. B. (2000) Persistent heteroplasmy of a mutation mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction. Am J Hum Genet 66, 1589-1598.
22. Ingman, M., Kaessmann, H., Paabo, S. & Gyllensten, U. (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408, 708-713.
23. Jazin, E., Soodyall, H., Jalonen, P., Lindholm, E., Stoneking, M. & Gyllensten, U. (1998) Mitochondrial mutation rate revisted: hot spots and polymorphism. Nat Genet 18, 109-110.
24. Jobling, M. A., Pandia, A. & Tyler-Smith, C. (1997) The Y chromosome forensic analysis and paternity testing. Int J Legal Med 110, 118-124.
25. Karafet T. M., Osipova L. P., Gubina M. A., Posukh O. L., Zegura S. L. & Hammer M. F. (2002) High levels of Y chromosome differentiation among Native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life. Hum Biol 74. 761-789.
26. Kayser, M., Roewer, L., Hedman, M., Henke, L., Henke, J., Brauer, S., Kruger, C. et al. (2000) Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66, 1580-1588.
27. Kayser, M., Krawczac, M., Excoffier, L., Dieltjes, P., Corach, D., Pascali, V., Gehrig, C., Berlini, L. F., Jespersen, J., Bakker, E., Roewer, L. & de Knijff, P. (2001) An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human population. Am J Hum Genet 68, 990-1018.
28. Kittles, A. R., Perola, M., Peltonen, L., Bergen, A., Aragon, R., Virkkunen, M., Linnoila, M., Goldman, D. & Long, L. (1998) Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet 62, 1171-1179.
29. Korostishevsky, M., Ginzburg, E., Bonné-Tamir, B. (2001) Mutation origin reconstruction based on adjacent haplotypes. The First Workshop on Information Technologies Application to Problem of Biodiversity and Dynamics of Ecosystem in North Eurasia, Novosibirsk. Russia. Abstract P219.
30. Macaulay, V., Richards, M., Hickey, E., Vega, E., Cruciani, F., Guida, V., Scozzari, R., Bonné-Tamir, B., Sykes, B. & Torroni, A. (1999) The emerging tree of west Eurasian mtDNA: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 64, 232-249.
31. Nebel A., Filon, D., Weiss, D. A., Weale, M., Weale, M., Faerman, M., Oppenheim, A. & Thomas, M. G. (2000) High resolution Y chromosome microsatellite haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews. Hum Genet 107, 630-641.
32. Nebel A., Filon, D. M., Brinkmann B., Majumder P. P., Faerman, M. & Oppenheim, A. (2001) The Y chromosome pool of Jews as a part of genetic landscape of the Middle East. Am J Hum Genet 69, 1095-1112.
33. Parsons, T. J., Muniec, D. S., Sullivan, K., Woodyatt, N., Alliston-Greiner, R., Wilson, M. R., Berry, D. L., Holland, K. A., Weedn, V. W., Gill, P. & Holland, M. M. (1997) A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet 15, 363-368.
34. Pel-Or, Y., Korostishevsky, M., Kalinsky, H. & Bonné-Tamir, B. (1997) Sequence types and mutation rate of the hypervariable I region of mitochondrial DNA in the Samaritans. International Conference on Molecular Biology and Evolution, Abstract P26.
35. Petermann, H. Von (1860) Reisen im Orient. Leipzig: Von Veit and Co.
36. PHYLIP (1995) Phylogeny Inference Package, release 3.57c. Department of Genetics, University Washington, USA.
37. Redd, A. J., Agellon, A. B., Kearney, V. A., Contreras V. A., Karafet, T., Park, H., de Knijff, P., Butler, J. M. & Hammer, M. F. (2002) Forensic value of fourteen novel STRs on human Y chromosome. Forensic Science International 130, 97-111.
38. Roberts, D. F. & Bonné, B. (1973) Reproduction and inbreeding among the Samaritans. Social Biology 20, 64-70.
39. Roewer, L., Kayser, M., Dieltjes, P., Nagy, M., Bakker, E., Krawczak, M. & de Knijff, P. (1996) Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet 5, 1029-1033.
40. Sheffield, V. C., Beck, J. S., Kwitek, A. E., Sandstrom, D. W., Stone, E. M. (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16, 325-332.
41. Siguroardóttir, S., Helgason, A., Gulcher, J. R., Stefansson, K. & Donneelly, P. (2000) The mutation rate in the human mtDNA control region. Am J Hum Genet 66, 1599-1609.
42. Skorecki, K., Selig, S., Blazer, S., Bradman, R., Bradman, N., Warburton, P. J., Ismajlowicz, M. & Hammer, M. F. (1977) Y chromosomes of Jewish priests. Nature 385, 32.
43. Soodyall, H., Jenkins, T., Mukherjee, A., Toit, E., Roberts, D. F. & Stoneking, M. (1997) The founding mitochondrial DNA lineages of Tristan da Cunha Islanders. Am J Phys Antropol 104, 157-166.
44. Thomas, M. G., Skorecki, K., Parafitt, T., Bradman, N. & Goldstein, D. B. (1998) Origins of Old Testament priests. Nature 394, 138-140.
45. Tully, L. A., Parsons, T. J., Steighner, R. J., Holland, M. M., Marino, M. A. & Prenger, V. L. (2000) A sensitive gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region. Am J Hum Genet 67, 432-443.
46. Underhill, P. A., Shen, P., Lin, A. A., Jin, L., Passarino, G., Yang, W. H., Kauffman, E., Bonné-Tamir, B., Bertranpetit, J., Francalacci, P., Ibrahim, M., Jenkins, T., Kidd, J. R., Mehdi, S. Q., Seielstad, M. T., Wells, R. S., Piazza, A., Davis, R. W., Feldman, M. W., Cavalli-Sforza, L. L. & Oefner, P. J. (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26, 358-361.
47. Walsh, B. (2001) Estimating the time to the most recent common ancestor for Y chromosome of mitochondrial DNA for a pair of individuals. Genetics 158, 897-912.
48. Wilson, I. J. & Balding, D. J. (1998) Genealogical inference from microsatellite data. Genetics 150, 499-510.
49. Chromosome Consortium (2002) A nomenclature system for the tree of human Y chromosomal binary haplogroups. Genome Res 12, 339-348.