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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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Localization of DEFB2L in rhesus macaque by FISH analysis. Double target FISH of BACs 201P10 and 47B11 together with chromosome 8 paint from human and the gene of interest probe DEFB2L to somatic rhesus macaque metaphase and interphase chromosomes stained blue with DAPI. (For probe description, see Materials and Methods.) (A, B) BAC 201P10 shows strong signal (digoxigenin-FITC, green, arrow) on the short arm of macaque chromosome 8 (Mml8) that is characterized by the human chromosome 8 paint (red). Many chromosomes also show dispersed signal (A) that is consistent with the BAC containing retroelements and other repeats that are not observed under stringent image analysis (B). The strong sites on Mml8 and some secondary sites on other chromosomes are clearly visible. (C, D) BAC 47B11 (digoxigenin-FITC, green, C) shows few dispersed sites and the main locus on the distal end of the short arm of chromosome 8 (arrows); a few stronger secondary sites are also visible. DEFB2L shows pairs of dots (Biotin Alexa 546, red; arrows in D) in the same region of chromosome Mml8 as the BAC 47B11 probe. (E) Metaphase chromosome Mml8 identified by red fluorescence of the human chromosome 8 paint (red) shows a single pair of dots from DEFB2L (digoxigenin-FITC yellow green, arrow) at the distal end of the short arm. (F, G) Interphase nuclei probed with human chromosome 8 paint (red) and DEFB2L (digoxigenin-FITC green). One (F) or two (G) domains of various compactions are visible with the defensin gene at the edge of the domains orientated toward the interior of the nucleus. Bar 10 µm in (A)–(G) and 5 µm in (E).
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evu236-F2: Localization of DEFB2L in rhesus macaque by FISH analysis. Double target FISH of BACs 201P10 and 47B11 together with chromosome 8 paint from human and the gene of interest probe DEFB2L to somatic rhesus macaque metaphase and interphase chromosomes stained blue with DAPI. (For probe description, see Materials and Methods.) (A, B) BAC 201P10 shows strong signal (digoxigenin-FITC, green, arrow) on the short arm of macaque chromosome 8 (Mml8) that is characterized by the human chromosome 8 paint (red). Many chromosomes also show dispersed signal (A) that is consistent with the BAC containing retroelements and other repeats that are not observed under stringent image analysis (B). The strong sites on Mml8 and some secondary sites on other chromosomes are clearly visible. (C, D) BAC 47B11 (digoxigenin-FITC, green, C) shows few dispersed sites and the main locus on the distal end of the short arm of chromosome 8 (arrows); a few stronger secondary sites are also visible. DEFB2L shows pairs of dots (Biotin Alexa 546, red; arrows in D) in the same region of chromosome Mml8 as the BAC 47B11 probe. (E) Metaphase chromosome Mml8 identified by red fluorescence of the human chromosome 8 paint (red) shows a single pair of dots from DEFB2L (digoxigenin-FITC yellow green, arrow) at the distal end of the short arm. (F, G) Interphase nuclei probed with human chromosome 8 paint (red) and DEFB2L (digoxigenin-FITC green). One (F) or two (G) domains of various compactions are visible with the defensin gene at the edge of the domains orientated toward the interior of the nucleus. Bar 10 µm in (A)–(G) and 5 µm in (E).

Mentions: Two probes specific for the DEFB2L region spanning chr8:8068951–8069850 and chr8:8072076–8073004 were generated by PCR from rhesus macaque genomic DNA and used to probe Segment 1 CHORI-250 BAC library filters (BACPAC Resources Center). In total, 21 positive clones were identified, of which six were selected for further analysis. BAC DNA was extracted from growing Escherichia coli cultures using cesium chloride ultracentrifugation, and end sequences generated using T7 and SP6 sequencing primers. Fluorescent in situ hybridization (FISH) with BAC 47B11 shows the main site on the distal end of the short arm of chromosome 8 (fig. 2C and D) with secondary and some dispersed signal due to repetitive elements contained within the BAC, whereas the probe for DEFB2L showed a signal only on chromosome 8. At interphase, one or two variably condensed domains are visible with chromosome 8 paint with the DEFB2L probe at the outside of the domain orientated to the interior of the nucleus (fig. 2F and G).


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)

Localization of DEFB2L in rhesus macaque by FISH analysis. Double target FISH of BACs 201P10 and 47B11 together with chromosome 8 paint from human and the gene of interest probe DEFB2L to somatic rhesus macaque metaphase and interphase chromosomes stained blue with DAPI. (For probe description, see Materials and Methods.) (A, B) BAC 201P10 shows strong signal (digoxigenin-FITC, green, arrow) on the short arm of macaque chromosome 8 (Mml8) that is characterized by the human chromosome 8 paint (red). Many chromosomes also show dispersed signal (A) that is consistent with the BAC containing retroelements and other repeats that are not observed under stringent image analysis (B). The strong sites on Mml8 and some secondary sites on other chromosomes are clearly visible. (C, D) BAC 47B11 (digoxigenin-FITC, green, C) shows few dispersed sites and the main locus on the distal end of the short arm of chromosome 8 (arrows); a few stronger secondary sites are also visible. DEFB2L shows pairs of dots (Biotin Alexa 546, red; arrows in D) in the same region of chromosome Mml8 as the BAC 47B11 probe. (E) Metaphase chromosome Mml8 identified by red fluorescence of the human chromosome 8 paint (red) shows a single pair of dots from DEFB2L (digoxigenin-FITC yellow green, arrow) at the distal end of the short arm. (F, G) Interphase nuclei probed with human chromosome 8 paint (red) and DEFB2L (digoxigenin-FITC green). One (F) or two (G) domains of various compactions are visible with the defensin gene at the edge of the domains orientated toward the interior of the nucleus. Bar 10 µm in (A)–(G) and 5 µm in (E).
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evu236-F2: Localization of DEFB2L in rhesus macaque by FISH analysis. Double target FISH of BACs 201P10 and 47B11 together with chromosome 8 paint from human and the gene of interest probe DEFB2L to somatic rhesus macaque metaphase and interphase chromosomes stained blue with DAPI. (For probe description, see Materials and Methods.) (A, B) BAC 201P10 shows strong signal (digoxigenin-FITC, green, arrow) on the short arm of macaque chromosome 8 (Mml8) that is characterized by the human chromosome 8 paint (red). Many chromosomes also show dispersed signal (A) that is consistent with the BAC containing retroelements and other repeats that are not observed under stringent image analysis (B). The strong sites on Mml8 and some secondary sites on other chromosomes are clearly visible. (C, D) BAC 47B11 (digoxigenin-FITC, green, C) shows few dispersed sites and the main locus on the distal end of the short arm of chromosome 8 (arrows); a few stronger secondary sites are also visible. DEFB2L shows pairs of dots (Biotin Alexa 546, red; arrows in D) in the same region of chromosome Mml8 as the BAC 47B11 probe. (E) Metaphase chromosome Mml8 identified by red fluorescence of the human chromosome 8 paint (red) shows a single pair of dots from DEFB2L (digoxigenin-FITC yellow green, arrow) at the distal end of the short arm. (F, G) Interphase nuclei probed with human chromosome 8 paint (red) and DEFB2L (digoxigenin-FITC green). One (F) or two (G) domains of various compactions are visible with the defensin gene at the edge of the domains orientated toward the interior of the nucleus. Bar 10 µm in (A)–(G) and 5 µm in (E).
Mentions: Two probes specific for the DEFB2L region spanning chr8:8068951–8069850 and chr8:8072076–8073004 were generated by PCR from rhesus macaque genomic DNA and used to probe Segment 1 CHORI-250 BAC library filters (BACPAC Resources Center). In total, 21 positive clones were identified, of which six were selected for further analysis. BAC DNA was extracted from growing Escherichia coli cultures using cesium chloride ultracentrifugation, and end sequences generated using T7 and SP6 sequencing primers. Fluorescent in situ hybridization (FISH) with BAC 47B11 shows the main site on the distal end of the short arm of chromosome 8 (fig. 2C and D) with secondary and some dispersed signal due to repetitive elements contained within the BAC, whereas the probe for DEFB2L showed a signal only on chromosome 8. At interphase, one or two variably condensed domains are visible with chromosome 8 paint with the DEFB2L probe at the outside of the domain orientated to the interior of the nucleus (fig. 2F and G).

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