ArticleGenetics2000
Contrasting evolutionary histories of two introns of the duchenne muscular dystrophy gene, Dmd, in humans.
Article in Genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 71 citations in OpenAlex.
- Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese.Scientific reports · 2017Trial
- Antisense oligonucleotides for the treatment of cardiomyopathy in Duchenne muscular dystrophy.American journal of translational research · 2019Review
- Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype.Journal of cardiovascular development and disease · 2017Review
- DNA polymorphism and selection at the bindin locus in three Strongylocentrotus sp. (Echinoidea).BMC genetics · 2016Article
- Evolutionary forces shaping genomic islands of population differentiation in humans.BMC genomics · 2012Article
- Genome-wide scans for footprints of natural selection.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2010Review
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Human mutation · 2009Article
- DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.Neuromuscular disorders : NMD · 2009Article
- Molecular population genetics of human CYP3A locus: signatures of positive selection and implications for evolutionary environmental medicine.Environmental health perspectives · 2009Article
- An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene.Genes and immunity · 2009Article
- Tracing genetic history of modern humans using X-chromosome lineages.Human genetics · 2007Article
- Variable molecular clocks in hominoids.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- A comparison of variation between a MHC pseudogene and microsatellite loci of the little greenbul (Andropadus virens).BMC evolutionary biology · 2005Article
- Divergent patterns of linkage disequilibrium and haplotype structure across global populations at the interleukin-13 (IL13) locus.Genes and immunity · 2005Article
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- Nucleotide variation at Msn and Alas2, two genes flanking the centromere of the X chromosome in humans.Genetics · 2004Article
- Human population structure and its effects on sampling Y chromosome sequence variation.Genetics · 2003Article
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Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Duchenne muscular dystrophy (Dmd) locus lies in a region of the X chromosome that experiences a high rate of recombination and is thus expected to be relatively unaffected by the effects of selection on nearby genes. To provide a picture of nucleotide variability at a high-recombination locus in humans, we sequenced 5. 4 kb from two introns of Dmd in a worldwide sample of 41 alleles from Africa, Asia, Europe, and the Americas. These same regions were also sequenced in one common chimpanzee and one orangutan. Dramatically different patterns of genetic variation were observed at these two introns, which are separated by >500 kb of DNA. Nucleotide diversity at intron 44 pi = 0.141% was more than four times higher than nucleotide diversity at intron 7 pi = 0.034% despite similar levels of divergence for these two regions. Intron 7 exhibited significant linkage disequilibrium extending over 10 kb and also showed a significant excess of rare polymorphisms. In contrast, intron 44 exhibited little linkage disequilibrium and no skew in the frequency distribution of segregating sites. Intron 7 was much more variable in Africa than in other continents, while intron 44 displayed similar levels of variability in different geographic regions. Comparison of intraspecific polymorphism to interspecific divergence using the HKA test revealed a significant reduction in variability at intron 7 relative to intron 44, and this effect was most pronounced in the non-African samples. These results are best explained by positive directional selection acting at or near intron 7 and demonstrate that even genes in regions of high recombination may be influenced by selection at linked sites.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.