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PMID: 9799265 Published · ppublish English Journal Article Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

DNA variability and recombination rates at X-linked loci in humans.

Genetics ·Vol. 150 ·No. 3 ·1998-11-00 ·Pages 1133-41

Nachman MW, Bauer VL, Crowell SL, Aquadro CF

Abstract

We sequenced 11,365 bp from introns of seven X-linked genes in 10 humans, one chimpanzee, and one orangutan to (i) provide an average estimate of nucleotide diversity (pi) in humans, (ii) investigate whether there is variation in pi among loci, (iii) compare ratios of polymorphism to divergence among loci, and (iv) provide a preliminary test of the hypothesis that heterozygosity is positively correlated with the local rate of recombination. The average value for pi was low 0.063%, SE = 0.036%, about one order of magnitude smaller than for Drosophila melanogaster, the species for which the best data are available. Among loci, pi varied by over one order of magnitude. Statistical tests of neutrality based on ratios of polymorphism to divergence or based on the frequency spectrum of variation within humans failed to reject a neutral, equilibrium model. However, there was a positive correlation between heterozygosity and rate of recombination, suggesting that the joint effects of selection and linkage are important in shaping patterns of nucleotide variation in humans.

MeSH Terms
Animals DNA/genetics Genetic Linkage Genetic Variation Genome Genome, Human Humans Pan troglodytes Polymorphism, Genetic Pongo pygmaeus Recombination, Genetic X Chromosome/genetics
Chemicals
DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Nachman M W
Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, Arizona 85721, USA. nachman@u.arizona.edu
Bauer V L
Crowell S L
Aquadro C F
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Article Info
Journal
Genetics
Abbr.
Genetics
ISSN
0016-6731
DOI
10.1093/genetics/150.3.1133
Email
nachman@u.arizona.edu
Published
1998-11-00
Pages
1133-41
Language
English
Region
United States
NLM ID
0374636
PMCID
PMC1460397
Subset
IM
Grants
NIGMS NIH HHS · R01 GM036431 · United States
Databases
GENBANK
AF085430, AF085431, AF085432, AF085433, AF085434, AF085435, AF085436, AF085437, AF085438, AF085439, AF085440, AF085441, AF085442, AF085443, AF085444, AF085445, AF085446, AF085447, AF085448, AF085449, AF085450, AF085451, AF085452, AF085453, AF085454, AF085455, AF085456, AF085457, AF085458, AF085459
External Links
PubMed source DOI: 10.1093/genetics/150.3.1133 PMC Full Text View journal details
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