The DOI matches its Crossref record; 61 of the 61 references it cites were found in a registry or an index.
The different levels of genetic diversity in sex chromosomes and autosomes
Abstract
Sex chromosomes and autosomes differ in their effective population size, mutation and demography, all of which affect the relative level of genetic diversity within the genome. Moreover, natural selection acts differentially on the two chromosomal categories, for example, because recessive mutations are directly exposed to selection on the single X chromosome of males. Recent genome analyses reveal a heterogeneous picture of the sex-chromosome-to-autosome diversity ratio in different organisms. Reduced X chromosome diversity has been interpreted to reflect demographic features such as bottlenecks and male-biased dispersal, whereas more equal diversity in sex chromosomes and autosomes has been explained by polygynous mating systems.
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Cites
The hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (1974) · Genetical Research · doi:10.1017/s0016672300014634 · Cited by 3,415
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature · doi:10.1038/35057149 · Cited by 2,977
The hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (2007) · Genetics Research · doi:10.1017/s0016672308009579 · Cited by 2,675
Initial sequence of the chimpanzee genome and comparison with the human genome
The Chimpanzee Sequencing and Analysis Consortium (2005) · Nature · doi:10.1038/nature04072 · Cited by 2,459
The effect of deleterious mutations on neutral molecular variation.
Charlesworth, B., Morgan, M. T., & Charlesworth, D. (1993) · Genetics · doi:10.1093/genetics/134.4.1289 · Cited by 1,814
Effective population size and patterns of molecular evolution and variation
Charlesworth, B. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2526 · Cited by 1,743
Molecular Signatures of Natural Selection
Nielsen, R. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.39.073003.112420 · Cited by 1,705
Evolutionary and biomedical insights from the rhesus macaque genome.
Gibbs, R. A., Rogers, J., Katze, M. G., Bumgarner, R., Weinstock, G. M., Mardis, E. R., Remington, K. A., Strausberg, R. L., Venter, J. C., Wilson, R. K., et al. (2007) · Science · doi:10.1126/science.1139247 · Cited by 1,403
SEX CHROMOSOMES AND THE EVOLUTION OF SEXUAL DIMORPHISM
Rice, W. R. (1984) · Evolution · doi:10.1111/j.1558-5646.1984.tb00346.x · Cited by 1,174
The Relative Rates of Evolution of Sex Chromosomes and Autosomes
Charlesworth, B., Coyne, J. A., & Barton, N. (1987) · The American Naturalist · doi:10.1086/284701 · Cited by 1,068
Levels of naturally occurring DNA polymorphism correlate with recombination rates in D. melanogaster
Begun, D. J., & Aquadro, C. F. (1992) · Nature · doi:10.1038/356519a0 · Cited by 958
The degeneration of Y chromosomes
Charlesworth, B., & Charlesworth, D. (2000) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2000.0717 · Cited by 931
The evolution of sex-biased genes and sex-biased gene expression
Ellegren, H., & Parsch, J. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2167 · Cited by 925
Self-citationPopulation Genomics: Whole-Genome Analysis of Polymorphism and Divergence in Drosophila simulans
Begun, D. J., Holloway, A. K., Stevens, K., Hillier, L. W., Poh, Y.-P., Hahn, M. W., Nista, P. M., Jones, C. D., Kern, A. D., Dewey, C. N., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050310 · Cited by 637
Developments in the prediction of effective population size
Caballero, A. (1994) · Heredity · doi:10.1038/hdy.1994.174 · Cited by 572
Recent and ongoing selection in the human genome
Nielsen, R., Hellmann, I., Hubisz, M. J., Bustamante, C. D., & Clark, A. G. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2187 · Cited by 513
Evolution on the X chromosome: unusual patterns and processes
Viçoso, B., & Charlesworth, B. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1914 · Cited by 499
Sex Chromosomes and the Evolution of Sexual Dimorphism
Rice, W. R. (1984) · Evolution · doi:10.2307/2408385 · Cited by 467
Haldane's Sieve and Adaptation From the Standing Genetic Variation
Orr, H. A., & Betancourt, A. J. (2001) · Genetics · doi:10.1093/genetics/157.2.875 · Cited by 371
Human SNP variability and mutation rate are higher in regions of high recombination
Lercher, M. J., & Hurst, L. D. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02669-0 · Cited by 367
Human genome sequence variation and the influence of gene history, mutation and recombination
Reich, D., Schaffner, S. F., Daly, M. J., McVean, G., Mullikin, J. C., Higgins, J. M., Richter, D. J., Lander, E. S., & Altshuler, D. (2002) · Nature Genetics · doi:10.1038/ng947 · Cited by 335
Zechner, U., Wilda, M., Kehrer‐Sawatzki, H., Vogel, W., Fundele, R., & Hameister, H. (2001) · Trends in Genetics · doi:10.1016/s0168-9525(01)02446-5 · Cited by 274
Strong male-driven evolution of DNA sequences in humans and apes
Makova, K. D., & Li, W. (2002) · Nature · doi:10.1038/416624a · Cited by 256
Sex Chromosome-Linked Species Recognition and Evolution of Reproductive Isolation in Flycatchers
Sæther, S. A., Sætre, G., Borge, T., Wiley, C., Svedin, N., Andersson, G., Veen, T., Haavie, J., Servedio, M. R., Bureš, S., et al. (2007) · Science · doi:10.1126/science.1141506 · Cited by 246
The X chromosome in population genetics
Schaffner, S. F. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1247 · Cited by 238
Speciation through evolution of sex-linked genes
Qvarnström, A., & Bailey, R. I. (2008) · Heredity · doi:10.1038/hdy.2008.93 · Cited by 237
Andolfatto, P. (2001) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a003804 · Cited by 233
Fay, J. C., & Wu, C.-I. (1999) · Molecular biology and evolution · doi:10.1093/oxfordjournals.molbev.a026175 · Cited by 232
Li, W. (2002) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(02)00354-4 · Cited by 224
Characteristics, causes and evolutionary consequences of male-biased mutation
Ellegren, H. (2006) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2006.3720 · Cited by 196
Self-citationPOPULATION SIZE CHANGES RESHAPE GENOMIC PATTERNS OF DIVERSITY
Pool, J. E., & Nielsen, R. (2007) · Evolution · doi:10.1111/j.1558-5646.2007.00238.x · Cited by 179
Reduced X-linked nucleotide polymorphism in Drosophila simulans
Begun, D. J., & Whitley, P. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.11.5960 · Cited by 167
Fast-X on the Z: Rapid evolution of sex-linked genes in birdsPreprint
Mank, J. E., Axelsson, E., & Ellegren, H. (2007) · Genome Research · doi:10.1101/gr.6031907 · Cited by 163
Self-citationTesting Models of Selection and Demography in Drosophila simulans
Wall, J. D., Andolfatto, P., & Przeworski, M. (2002) · Genetics · doi:10.1093/genetics/162.1.203 · Cited by 163
Mutation rate variation in the mammalian genome
Ellegren, H., Smith, N. G. C., & Webster, M. T. (2003) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2003.10.008 · Cited by 159
Self-citationAccelerated genetic drift on chromosome X during the human dispersal out of Africa
Keinan, A., Mullikin, J. C., Patterson, N. J., & Reich, D. (2008) · Nature Genetics · doi:10.1038/ng.303 · Cited by 156
The effect of life-history and mode of inheritance on neutral genetic variability
Charlesworth, B. (2001) · Genetics Research · doi:10.1017/s0016672301004979 · Cited by 155
Sex-Biased Evolutionary Forces Shape Genomic Patterns of Human Diversity
Hammer, M. F., Mendez, F. L., Cox, M. P., Woerner, A. E., & Wall, J. D. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000202 · Cited by 155
Caballero, A. (1995) · Genetics · doi:10.1093/genetics/139.2.1007 · Cited by 150
SEX: DIFFERENCES IN MUTATION, RECOMBINATION, SELECTION, GENE FLOW, AND GENETIC DRIFT
Hedrick, P. W. (2007) · Evolution · doi:10.1111/j.1558-5646.2007.00250.x · Cited by 142
Progress and prospects in mapping recent selection in the genome
Thornton, K., Jensen, J. D., Becquet, C., & Andolfatto, P. (2007) · Heredity · doi:10.1038/sj.hdy.6800967 · Cited by 137
Borge, T., Webster, M. T., Andersson, G., & Sætre, G. (2005) · Genetics · doi:10.1534/genetics.105.045120 · Cited by 114
Zhai, W., Nielsen, R., & Slatkin, M. (2008) · Molecular Biology and Evolution · doi:10.1093/molbev/msn231 · Cited by 114
Hütter, S., Li, H., Beisswanger, S., Lorenzo, D., & Stephan, W. (2007) · Genetics · doi:10.1534/genetics.107.074922 · Cited by 110
Speciation as a positive feedback loop between postzygotic and prezygotic barriers to gene flow
Servedio, M. R., & Sætre, G. (2003) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2003.2391 · Cited by 104
The Impact of Natural Selection on the Genome: Emerging Patterns in Drosophila and Arabidopsis
Wright, S., & Andolfatto, P. (2008) · Annual Review of Ecology Evolution and Systematics · doi:10.1146/annurev.ecolsys.39.110707.173342 · Cited by 102
LIFE HISTORY AND THE MALE MUTATION BIAS
Bartosch-Härlid, A., Berlin, S., Smith, N. G. C., Møller, A. P., & Ellegren, H. (2003) · Evolution · doi:10.1554/03-036 · Cited by 99
Self-citationReduced X-Linked Diversity in Derived Populations of House Mice
Baines, J. F., & Harr, B. (2007) · Genetics · doi:10.1534/genetics.106.069419 · Cited by 89
A Pseudohitchhiking Model of X vs. Autosomal Diversity
Betancourt, A. J., Kim, Y., & Orr, H. A. (2004) · Genetics · doi:10.1534/genetics.104.030999 · Cited by 74
Reduced Variation on the Chicken Z Chromosome
Sundström, H., Webster, M. T., & Ellegren, H. (2004) · Genetics · doi:10.1534/genetics.167.1.377 · Cited by 73
Self-citationGenomic evidence for a large-Z effect
Ellegren, H. (2008) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2008.1135 · Cited by 61
Self-citationUnraveling male and female histories from human genetic data
Wilkins, J. F. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.10.004 · Cited by 53
Population bottlenecks and patterns of human polymorphism
Hey, J., & Harris, E. E. (1999) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a026054 · Cited by 51
Singh, N. D., Macpherson, J. M., Jensen, J. D., & Petrov, D. A. (2007) · BMC Evolutionary Biology · doi:10.1186/1471-2148-7-202 · Cited by 50
Evaluating signatures of sex-specific processes in the human genome
Bustamante, C. D., & Ramachandran, S. (2008) · Nature Genetics · doi:10.1038/ng0109-8 · Cited by 46
The organization and evolution of the human Y chromosome.
Charlesworth, B. (2003) · Genome biology · doi:10.1186/gb-2003-4-9-226 · Cited by 42
DNA Polymorphism in a Worldwide Sample of Human X Chromosomes
Ning, Y., Fu, Y., & Li, W. (2002) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a004038 · Cited by 40
The Impact of Founder Events on Chromosomal Variability in Multiply Mating Species
Pool, J. E., & Nielsen, R. (2008) · Molecular Biology and Evolution · doi:10.1093/molbev/msn124 · Cited by 34
Viçoso, B., & Charlesworth, B. (2009) · Genetics · doi:10.1534/genetics.108.098004 · Cited by 33
Phillips, N., Salomon, M. P., Custer, A. W., Ostrow, D. G., & Baer, C. F. (2008) · Molecular Biology and Evolution · doi:10.1093/molbev/msn287 · Cited by 33
Evolution of Gene Function on the X Chromosome Versus the Autosomes
Singh, N. D., & Petrov, D. A. (2007) · KARGER eBooks · doi:10.1159/000107606 · Cited by 19
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Metadata
- Authors
- Ellegren, H.
- Affiliations
- Uppsala University (SE)
- Corresponding author
- Ellegren, Hans
- ORCID
- Ellegren, Hans
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2009-06
- Volume
- 25
- Issue
- 6
- Pages
- 278-284
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W1969937490
- Semantic Scholar
- fc61691f89e6af7396c74178f7bdcbe2f10328e7
- Cited by
- 154
- References
- 60
- Citations by year
- 2026: 13 · 2025: 6 · 2024: 8 · 2023: 7 · 2022: 5 · 2021: 25 · 2020: 5 · 2019: 3 · 2018: 7 · 2017: 3 · 2016: 5 · 2015: 9 · 2014: 17 · 2013: 11 · 2012: 14
- FWCI
- 0.82
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Vetenskapsrådet
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- sex chromosomes, autosomes, genetic diversity, effective population size, mutation rate, natural selection, X chromosome, recessive mutations, population bottleneck, male-biased dispersal, polygyny, mating systems
- MeSH terms
- Female, Humans, Male, Selection, Genetic, Sex Chromosomes, Genetic Variation
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