Adjusting the focus on human variation
- PMID: 10858659
- DOI: 10.1016/s0168-9525(00)02030-8
Adjusting the focus on human variation
Abstract
Studies of nuclear sequence variation are accumulating, such that we can expect a good description of the structure of human variation across populations and genomic regions in the near future. This description will help to elucidate the evolutionary forces that shape patterns of variability. Such an understanding will be of general biological interest, but could also facilitate the design and interpretation of disease-mapping studies. Here, we integrate the results from surveys of nuclear sequence variation. When nuclear sequences are considered together with mtDNA and microsatellites, it becomes clear that neither the standard neutral model, nor a simple long-term exponential growth model, can account for all the available human variation data. A possible explanation is that a subset of loci are not evolving neutrally; even so, more-complex models of effective population size and structure might be necessary to explain the data.
Similar articles
-
Temporal relationship between genetic and warning signal variation in the aposematic wood tiger moth (Parasemia plantaginis).Mol Ecol. 2014 Oct;23(20):4939-57. doi: 10.1111/mec.12913. Epub 2014 Oct 7. Mol Ecol. 2014. PMID: 25211063
-
Sex-biased evolutionary forces shape genomic patterns of human diversity.PLoS Genet. 2008 Sep 26;4(9):e1000202. doi: 10.1371/journal.pgen.1000202. PLoS Genet. 2008. PMID: 18818765 Free PMC article.
-
Inferring population history and demography using microsatellites, mitochondrial DNA, and major histocompatibility complex (MHC) genes.Evolution. 2008 Jun;62(6):1458-68. doi: 10.1111/j.1558-5646.2008.00364.x. Epub 2008 Mar 6. Evolution. 2008. PMID: 18331461
-
Patterns of human genetic diversity: implications for human evolutionary history and disease.Annu Rev Genomics Hum Genet. 2003;4:293-340. doi: 10.1146/annurev.genom.4.070802.110226. Annu Rev Genomics Hum Genet. 2003. PMID: 14527305 Review.
-
Evolution by phenotype: a biomedical perspective.Perspect Biol Med. 2003 Spring;46(2):159-82. doi: 10.1353/pbm.2003.0032. Perspect Biol Med. 2003. PMID: 12721519 Review.
Cited by
-
2023 ASHG Scientific Achievement Award.Am J Hum Genet. 2024 Mar 7;111(3):425-427. doi: 10.1016/j.ajhg.2023.12.014. Am J Hum Genet. 2024. PMID: 38458164
-
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.J Appl Genet. 2022 Dec;63(4):691-701. doi: 10.1007/s13353-022-00713-z. Epub 2022 Aug 15. J Appl Genet. 2022. PMID: 35971028 Free PMC article. Review.
-
Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability.Hum Genomics. 2021 Mar 19;15(1):19. doi: 10.1186/s40246-021-00318-3. Hum Genomics. 2021. PMID: 33741065 Free PMC article.
-
Population structure of indigenous inhabitants of Arabia.PLoS Genet. 2021 Jan 11;17(1):e1009210. doi: 10.1371/journal.pgen.1009210. eCollection 2021 Jan. PLoS Genet. 2021. PMID: 33428619 Free PMC article.
-
Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Hum Genet. 2021 Feb;140(2):241-276. doi: 10.1007/s00439-020-02206-7. Epub 2020 Jul 29. Hum Genet. 2021. PMID: 32728809 Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources