Genetics, Vol. 152, 1091-1101, July 1999, Copyright © 1999

Spatial and Temporal Distribution of the Neutral Polymorphisms in the Last ZFX Intron: Analysis of the Haplotype Structure and Genealogy

Jadwiga Jaruzelskaa, Ewa Zietkiewiczb, Mark Batzerd, David E. C. Colee, Jean-Paul Moisanf, Rosaria Scozzarig, Simon Tavaréh, and Damian Labudab,c
a Institute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland,
b Centre de Cancérologie Charles-Bruneau, Centre de Recherche de l'Hôpital Sainte-Justine
c Département de Pédiatrie, Université de Montréal, Montreal, Quebec H3T 1C5, Canada,
d Department of Pathology, Stanley S. Scott Cancer Center, Louisiana State University Medical Center, New Orleans, Louisiana 70112,
e Department of Laboratory Medicine and Pathology, Banting Institute, Toronto, Ontario M5G 1L5, Canada,
f Laboratoire de Génétique Moléculaire, Plateau Technique de l'Hôtel-Dieu, Centre Hospitalier Régional et Universitaire, 44035 Nantes, Cedes, France,
g Dipartimento Genetica e Biologia Molecolare, Universita "La Sapienza," 00185 Rome, Italy
h Departments of Biological Sciences and Mathematics, University of Southern California, Los Angeles, California 90089-1113

Corresponding author: Damian Labuda, Centre de Recherche, Hôpital Sainte-Justine, 3175 Côte-Sainte Catherine, Montreal, Quebec H3T 1C5 Canada., labuda{at}ere.umontreal.ca (E-mail)

Communicating editor: A. G. CLARK

With 10 segregating sites (simple nucleotide polymorphisms) in the last intron (1089 bp) of the ZFX gene we have observed 11 haplotypes in 336 chromosomes representing a worldwide array of 15 human populations. Two haplotypes representing 77% of all chromosomes were distributed almost evenly among four continents. Five of the remaining haplotypes were detected in Africa and 4 others were restricted to Eurasia and the Americas. Using the information about the ancestral state of the segregating positions (inferred from human-great ape comparisons), we applied coalescent analysis to estimate the age of the polymorphisms and the resulting haplotypes. The oldest haplotype, with the ancestral alleles at all the sites, was observed at low frequency only in two groups of African origin. Its estimated age of 740 to 1100 kyr corresponded to the time to the most recent common ancestor. The two most frequent worldwide distributed haplotypes were estimated at 550 to 840 and 260 to 400 kyr, respectively, while the age of the continentally restricted polymorphisms was 120 to 180 kyr and smaller. Comparison of spatial and temporal distribution of the ZFX haplotypes suggests that modern humans diverged from the common ancestral stock in the Middle Paleolithic era. Subsequent range expansion prevented substantial gene flow among continents, separating African groups from populations that colonized Eurasia and the New World.




This article has been cited by other articles:


Home page
 Mol Biol EvolHome page
A. R. Rogers, S. Wooding, C. D. Huff, M. A. Batzer, and L. B. Jorde
Ancestral Alleles and Population Origins: Inferences Depend on Mutation Rate
Mol. Biol. Evol., April 1, 2007; 24(4): 990 - 997.
[Abstract] [Full Text] [PDF]

Home page
 Mol Biol EvolHome page
M. K. Shimada, K. Panchapakesan, S. A. Tishkoff, A. Q. Nato Jr, and J. Hey
Divergent Haplotypes and Human History as Revealed in a Worldwide Survey of X-Linked DNA Sequence Variation
Mol. Biol. Evol., March 1, 2007; 24(3): 687 - 698.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
M. F. Hammer, D. Garrigan, E. Wood, J. A. Wilder, Z. Mobasher, A. Bigham, J. G. Krenz, and M. W. Nachman
Heterogeneous Patterns of Variation Among Multiple Human X-Linked Loci: The Possible Role of Diversity-Reducing Selection in Non-Africans
Genetics, August 1, 2004; 167(4): 1841 - 1853.
[Abstract] [Full Text] [PDF]

Home page
 Mol Biol EvolHome page
M. Le Jossec, T. Wambach, D. Labuda, D. Sinnett, and E. Levy
Genetic Diversity Patterns in the SR-BI/II Locus Can Be Explained by a Recent Selective Sweep
Mol. Biol. Evol., April 1, 2004; 21(4): 760 - 769.
[Abstract] [Full Text] [PDF]

Home page
 Mol Biol EvolHome page
G. Zhou, Y. Zhai, X. Dong, X. Zhang, F. He, K. Zhou, Y. Zhu, H. Wei, Z. Yao, S. Zhong, et al.
Haplotype Structure and Evidence for Positive Selection at the Human IL13 Locus
Mol. Biol. Evol., January 1, 2004; 21(1): 29 - 36.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
M. A. Saunders, M. F. Hammer, and M. W. Nachman
Nucleotide Variability at G6pd and the Signature of Malarial Selection in Humans
Genetics, December 1, 2002; 162(4): 1849 - 1861.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
N. Yu, F.-C. Chen, S. Ota, L. B. Jorde, P. Pamilo, L. Patthy, M. Ramsay, T. Jenkins, S.-K. Shyue, and W.-H. Li
Larger Genetic Differences Within Africans Than Between Africans and Eurasians
Genetics, May 1, 2002; 161(1): 269 - 274.
[Abstract] [Full Text] [PDF]

Home page
 Mol Biol EvolHome page
B. A. Payseur and M. W. Nachman
Gene Density and Human Nucleotide Polymorphism
Mol. Biol. Evol., March 1, 2002; 19(3): 336 - 340.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
L.B. Jorde, W.S. Watkins, and M.J. Bamshad
Population genomics: a bridge from evolutionary history to genetic medicine
Hum. Mol. Genet., October 1, 2001; 10(20): 2199 - 2207.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
S. Alonso and J. A. L. Armour
A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outside Africa
PNAS, December 14, 2000; (2000) 11244998.
[Abstract] [Full Text]

Home page
 Genome ResHome page
D. A. Nickerson, S. L. Taylor, S. M. Fullerton, K. M. Weiss, A. G. Clark, J. H. Stengård, V. Salomaa, E. Boerwinkle, and C. F. Sing
Sequence Diversity and Large-Scale Typing of SNPs in the Human Apolipoprotein E Gene
Genome Res., October 1, 2000; 10(10): 1532 - 1545.
[Abstract] [Full Text]

Home page
 GeneticsHome page
D. Labuda, E. Zietkiewicz, and V. Yotova
Archaic Lineages in the History of Modern Humans
Genetics, October 1, 2000; 156(2): 799 - 808.
[Abstract] [Full Text]

Home page
 GeneticsHome page
M. W. Nachman and S. L. Crowell
Contrasting Evolutionary Histories of Two Introns of the Duchenne Muscular Dystrophy Gene, Dmd, in Humans
Genetics, August 1, 2000; 155(4): 1855 - 1864.
[Abstract] [Full Text]

Home page
 GeneticsHome page
J. D. Wall and M. Przeworski
When Did the Human Population Size Start Increasing?
Genetics, August 1, 2000; 155(4): 1865 - 1874.
[Abstract] [Full Text]

Home page
 Proc. Natl. Acad. Sci. USAHome page
R. Thomson, J. K. Pritchard, P. Shen, P. J. Oefner, and M. W. Feldman
Recent common ancestry of human Y chromosomes: Evidence from DNA sequence data
PNAS, June 20, 2000; 97(13): 7360 - 7365.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
S. Alonso and J. A. L. Armour
A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outside Africa
PNAS, January 30, 2001; 98(3): 864 - 869.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
R. Martinez-Arias, F. Calafell, E. Mateu, D. Comas, A. Andres, and J. Bertranpetit
Sequence Variability of a Human Pseudogene
Genome Res., June 1, 2001; 11(6): 1071 - 1085.
[Abstract] [Full Text] [PDF]