|Title||Gene Diversity Patterns at 10 X-Chromosomal Loci in Humans and Chimpanzees|
|Publication Type||Journal Article|
|Year of Publication||2003|
|Authors||Kitano, T, Schwarz, C, Nickel, B, Paabo, S|
|Journal||Mol Biol Evol|
|Keywords||acceleration, brain, positive selection, to-save, X chromosome|
We have investigated the pattern and extent of nucleotide diversity in 10 X-chromosomal genes where mutations are known to cause mental retardation in humans. For each gene, we sequenced the entire coding region from cDNA in humans, chimpanzees, and orangutans, as well as about 3 kb of genomic DNA in 20 humans sampled worldwide and in 10 chimpanzees representing two "subspecies." Overall nucleotide diversity in these genes is about twofold lower in humans than in chimpanzees, and nucleotide diversity within and between species is low, suggesting that a high level of functional constraint acts on these genes. Strikingly, we find that a summary of the allele frequency spectrum is significantly correlated in humans and chimpanzees, perhaps reflecting very similar levels of constraint at these genes in the two species. A possible exception is FMR2, which shows a higher number of nonsynonymous than synonymous substitutions on the human lineage, suggesting the action of positive selection. 10.1093/molbev/msg134
Gene Diversity Patterns at 10 X-Chromosomal Loci in Humans and Chimpanzees
For years, I've worked on their bones. Now I'm working on their genes. Read more about the science studying these ancient people.
From a finger bone of an ancient human came the record of a completely unexpected population. My lab is working on the science of the Denisova genome.
The advent of agriculture caused natural selection to speed up greatly in humans. We're uncovering some of the ways that populations have rapidly changed during the last 10,000 years.