Contrasting levels of DNA polymorphism at the autosomal and X-linked visual color pigment loci in humans and squirrel monkeys |
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Authors: | Shimmin LC; Miller J; Tran HN; Li WH |
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Institution: | Human Genetics Center, SPH, University of Texas-Houston, USA. |
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Abstract: | The X-linked color pigment (opsin) locus is known to be highly polymorphic
in the squirrel monkey and other New World monkeys. To see whether this is
also the case for the autosomal (blue) opsin locus, we obtained 32 squirrel
monkey and 30 human blue opsin gene sequences. No amino acid polymorphism
was found in either the squirrel monkey sample or the human sample,
contrary to the situation at the X-linked opsin locus. This sharp contrast
in the level of polymorphism might be due to differences in gene expression
between the autosomal and the X-linked loci. At the X-linked locus,
heterozygote advantage can occur because, owing to X-inactivation, the two
alleles in a heterozygote are expressed in different cone cells, producing
two types of cone cell, whereas at the autosomal locus, heterozygote
advantage cannot occur because the two alleles in a heterozygote are
expressed in the same cone cells, producing only one type of cone cell
(i.e., phenotypically a homozygote). From the sequence data, the levels of
nucleotide diversity (pi, i.e., the number of nucleotide differences per
site) are estimated: for the human sample, pi = 0.00% per nondegenerate
site, 0.00% per twofold degenerate site, and 0.04% per fourfold degenerate
site in the coding regions and 0.01% per site in intron 4; for the squirrel
monkey sample, pi = 0.00% per nondegenerate site, 0.00% per twofold
degenerate site, and 0.15% per fourfold degenerate site in the coding
regions and 0.17% per site in intron 4. The blue opsin genes from the
common and pygmy chimpanzees, the gorilla, the capuchin, and the howler
monkey were also sequenced. Features critical to the function of the opsin
are well conserved in all known mammalian sequences. However, the
interhelical loops are, on average, actually more conservative than the
transmembrane helical regions. In addition, these sequence data and those
from some other genes indicate that the common and pygmy chimpanzees are
not closely related, their divergence data being from one third to one half
the date of the human-chimpanzee divergence.
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