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Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene.

Ottolini B, Hornsby MJ, Abujaber R, MacArthur JA, Badge RM, Schwarzacher T, Albertson DG, Bevins CL, Solnick JV, Hollox EJ - Genome Biol Evol (2014)

Bottom Line: Remarkably, we found that the structure of the CNV is different between primates, with distinct mutational origins and CNV boundaries defined by retroviral long terminal repeat elements.In addition, the rhesus macaque gene has been subject to divergent positive selection at the amino acid level following its initial duplication event between 3 and 9.5 Ma, suggesting adaptation of this gene as the macaque successfully colonized novel environments outside Africa.Therefore, the molecular phenotype of β-defensin-2 CNV has undergone convergent evolution, and this gene shows evidence of adaptation at the amino acid level in rhesus macaques.

View Article: PubMed Central - PubMed

Affiliation: Department of Genetics, University of Leicester, United Kingdom.

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Using the McDonald Kreitman test to detect selection between rhesus macaque DEFB2L paralogs. The two fully sequenced BACs, each with two tandem 20-kb DEFB2L repeats, are shown. BAC 65I2 has DEFB2L1 and DEFB2L7 in tandem, whereas BAC 243E20 has DEFB2L6 and DEFB2L7 in tandem. The number of nonsynonymous and synonymous nucleotide changes between paralogs (divergence) and between alleles (diversity) is shown next to the double-headed arrows. Positions of exon-start and -end bases, numbered according to the BAC sequence position, are also shown.
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evu236-F5: Using the McDonald Kreitman test to detect selection between rhesus macaque DEFB2L paralogs. The two fully sequenced BACs, each with two tandem 20-kb DEFB2L repeats, are shown. BAC 65I2 has DEFB2L1 and DEFB2L7 in tandem, whereas BAC 243E20 has DEFB2L6 and DEFB2L7 in tandem. The number of nonsynonymous and synonymous nucleotide changes between paralogs (divergence) and between alleles (diversity) is shown next to the double-headed arrows. Positions of exon-start and -end bases, numbered according to the BAC sequence position, are also shown.

Mentions: The identification of true paralogs from BAC sequences allows a McDonald–Kreitman test to be constructed comparing the diversity between allelic copies with distance between paralogous copies (fig. 5). Analysis of the four BAC DEFB2L coding sequences, with a Jukes–Cantor correction, suggests that positive selection has acted on the two paralogs following duplication (P = 0.015), further supporting an adaptive role for amino acid substitutions differing between DEFB2L variants.Fig. 5.—


Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene.

Ottolini B, Hornsby MJ, Abujaber R, MacArthur JA, Badge RM, Schwarzacher T, Albertson DG, Bevins CL, Solnick JV, Hollox EJ - Genome Biol Evol (2014)

Using the McDonald Kreitman test to detect selection between rhesus macaque DEFB2L paralogs. The two fully sequenced BACs, each with two tandem 20-kb DEFB2L repeats, are shown. BAC 65I2 has DEFB2L1 and DEFB2L7 in tandem, whereas BAC 243E20 has DEFB2L6 and DEFB2L7 in tandem. The number of nonsynonymous and synonymous nucleotide changes between paralogs (divergence) and between alleles (diversity) is shown next to the double-headed arrows. Positions of exon-start and -end bases, numbered according to the BAC sequence position, are also shown.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4255768&req=5

evu236-F5: Using the McDonald Kreitman test to detect selection between rhesus macaque DEFB2L paralogs. The two fully sequenced BACs, each with two tandem 20-kb DEFB2L repeats, are shown. BAC 65I2 has DEFB2L1 and DEFB2L7 in tandem, whereas BAC 243E20 has DEFB2L6 and DEFB2L7 in tandem. The number of nonsynonymous and synonymous nucleotide changes between paralogs (divergence) and between alleles (diversity) is shown next to the double-headed arrows. Positions of exon-start and -end bases, numbered according to the BAC sequence position, are also shown.
Mentions: The identification of true paralogs from BAC sequences allows a McDonald–Kreitman test to be constructed comparing the diversity between allelic copies with distance between paralogous copies (fig. 5). Analysis of the four BAC DEFB2L coding sequences, with a Jukes–Cantor correction, suggests that positive selection has acted on the two paralogs following duplication (P = 0.015), further supporting an adaptive role for amino acid substitutions differing between DEFB2L variants.Fig. 5.—

Bottom Line: Remarkably, we found that the structure of the CNV is different between primates, with distinct mutational origins and CNV boundaries defined by retroviral long terminal repeat elements.In addition, the rhesus macaque gene has been subject to divergent positive selection at the amino acid level following its initial duplication event between 3 and 9.5 Ma, suggesting adaptation of this gene as the macaque successfully colonized novel environments outside Africa.Therefore, the molecular phenotype of β-defensin-2 CNV has undergone convergent evolution, and this gene shows evidence of adaptation at the amino acid level in rhesus macaques.

View Article: PubMed Central - PubMed

Affiliation: Department of Genetics, University of Leicester, United Kingdom.

Show MeSH
Related in: MedlinePlus