Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection

Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with bo...
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Autor*in:	Gokcumen, Omer [verfasserIn] Babb, Paul L Iskow, Rebecca C Zhu, Qihui Shi, Xinghua Mills, Ryan E Ionita-Laza, Iuliana Vallender, Eric J Clark, Andrew G Johnson, Welkin E Lee, Charles

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2011

Schlagwörter:	Copy Number Variation Human Reference Genome Effective Resolution Phenotypic Robustness Human CNVs

Anmerkung:	© Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:	Enthalten in: Genome biology - London : BioMed Central, 2000, 12(2011), 5 vom: 31. Mai
Übergeordnetes Werk:	volume:12 ; year:2011 ; number:5 ; day:31 ; month:05

Links:	Volltext

DOI / URN:	10.1186/gb-2011-12-5-r52

Katalog-ID:	SPR030011590

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520			\|a Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions.
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allfields	10.1186/gb-2011-12-5-r52 doi (DE-627)SPR030011590 (SPR)gb-2011-12-5-r52-e DE-627 ger DE-627 rakwb eng Gokcumen, Omer verfasserin aut Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions. Copy Number Variation (dpeaa)DE-He213 Human Reference Genome (dpeaa)DE-He213 Effective Resolution (dpeaa)DE-He213 Phenotypic Robustness (dpeaa)DE-He213 Human CNVs (dpeaa)DE-He213 Babb, Paul L aut Iskow, Rebecca C aut Zhu, Qihui aut Shi, Xinghua aut Mills, Ryan E aut Ionita-Laza, Iuliana aut Vallender, Eric J aut Clark, Andrew G aut Johnson, Welkin E aut Lee, Charles aut Enthalten in Genome biology London : BioMed Central, 2000 12(2011), 5 vom: 31. Mai (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:12 year:2011 number:5 day:31 month:05 https://dx.doi.org/10.1186/gb-2011-12-5-r52 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2011 5 31 05
spelling	10.1186/gb-2011-12-5-r52 doi (DE-627)SPR030011590 (SPR)gb-2011-12-5-r52-e DE-627 ger DE-627 rakwb eng Gokcumen, Omer verfasserin aut Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions. Copy Number Variation (dpeaa)DE-He213 Human Reference Genome (dpeaa)DE-He213 Effective Resolution (dpeaa)DE-He213 Phenotypic Robustness (dpeaa)DE-He213 Human CNVs (dpeaa)DE-He213 Babb, Paul L aut Iskow, Rebecca C aut Zhu, Qihui aut Shi, Xinghua aut Mills, Ryan E aut Ionita-Laza, Iuliana aut Vallender, Eric J aut Clark, Andrew G aut Johnson, Welkin E aut Lee, Charles aut Enthalten in Genome biology London : BioMed Central, 2000 12(2011), 5 vom: 31. Mai (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:12 year:2011 number:5 day:31 month:05 https://dx.doi.org/10.1186/gb-2011-12-5-r52 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2011 5 31 05
allfields_unstemmed	10.1186/gb-2011-12-5-r52 doi (DE-627)SPR030011590 (SPR)gb-2011-12-5-r52-e DE-627 ger DE-627 rakwb eng Gokcumen, Omer verfasserin aut Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions. Copy Number Variation (dpeaa)DE-He213 Human Reference Genome (dpeaa)DE-He213 Effective Resolution (dpeaa)DE-He213 Phenotypic Robustness (dpeaa)DE-He213 Human CNVs (dpeaa)DE-He213 Babb, Paul L aut Iskow, Rebecca C aut Zhu, Qihui aut Shi, Xinghua aut Mills, Ryan E aut Ionita-Laza, Iuliana aut Vallender, Eric J aut Clark, Andrew G aut Johnson, Welkin E aut Lee, Charles aut Enthalten in Genome biology London : BioMed Central, 2000 12(2011), 5 vom: 31. Mai (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:12 year:2011 number:5 day:31 month:05 https://dx.doi.org/10.1186/gb-2011-12-5-r52 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2011 5 31 05
allfieldsGer	10.1186/gb-2011-12-5-r52 doi (DE-627)SPR030011590 (SPR)gb-2011-12-5-r52-e DE-627 ger DE-627 rakwb eng Gokcumen, Omer verfasserin aut Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions. Copy Number Variation (dpeaa)DE-He213 Human Reference Genome (dpeaa)DE-He213 Effective Resolution (dpeaa)DE-He213 Phenotypic Robustness (dpeaa)DE-He213 Human CNVs (dpeaa)DE-He213 Babb, Paul L aut Iskow, Rebecca C aut Zhu, Qihui aut Shi, Xinghua aut Mills, Ryan E aut Ionita-Laza, Iuliana aut Vallender, Eric J aut Clark, Andrew G aut Johnson, Welkin E aut Lee, Charles aut Enthalten in Genome biology London : BioMed Central, 2000 12(2011), 5 vom: 31. Mai (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:12 year:2011 number:5 day:31 month:05 https://dx.doi.org/10.1186/gb-2011-12-5-r52 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2011 5 31 05
allfieldsSound	10.1186/gb-2011-12-5-r52 doi (DE-627)SPR030011590 (SPR)gb-2011-12-5-r52-e DE-627 ger DE-627 rakwb eng Gokcumen, Omer verfasserin aut Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions. Copy Number Variation (dpeaa)DE-He213 Human Reference Genome (dpeaa)DE-He213 Effective Resolution (dpeaa)DE-He213 Phenotypic Robustness (dpeaa)DE-He213 Human CNVs (dpeaa)DE-He213 Babb, Paul L aut Iskow, Rebecca C aut Zhu, Qihui aut Shi, Xinghua aut Mills, Ryan E aut Ionita-Laza, Iuliana aut Vallender, Eric J aut Clark, Andrew G aut Johnson, Welkin E aut Lee, Charles aut Enthalten in Genome biology London : BioMed Central, 2000 12(2011), 5 vom: 31. Mai (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:12 year:2011 number:5 day:31 month:05 https://dx.doi.org/10.1186/gb-2011-12-5-r52 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2011 5 31 05
language	English
source	Enthalten in Genome biology 12(2011), 5 vom: 31. Mai volume:12 year:2011 number:5 day:31 month:05
sourceStr	Enthalten in Genome biology 12(2011), 5 vom: 31. Mai volume:12 year:2011 number:5 day:31 month:05
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Copy Number Variation Human Reference Genome Effective Resolution Phenotypic Robustness Human CNVs
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container_title	Genome biology
authorswithroles_txt_mv	Gokcumen, Omer @@aut@@ Babb, Paul L @@aut@@ Iskow, Rebecca C @@aut@@ Zhu, Qihui @@aut@@ Shi, Xinghua @@aut@@ Mills, Ryan E @@aut@@ Ionita-Laza, Iuliana @@aut@@ Vallender, Eric J @@aut@@ Clark, Andrew G @@aut@@ Johnson, Welkin E @@aut@@ Lee, Charles @@aut@@
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author	Gokcumen, Omer
spellingShingle	Gokcumen, Omer misc Copy Number Variation misc Human Reference Genome misc Effective Resolution misc Phenotypic Robustness misc Human CNVs Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection
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topic_title	Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection Copy Number Variation (dpeaa)DE-He213 Human Reference Genome (dpeaa)DE-He213 Effective Resolution (dpeaa)DE-He213 Phenotypic Robustness (dpeaa)DE-He213 Human CNVs (dpeaa)DE-He213
topic	misc Copy Number Variation misc Human Reference Genome misc Effective Resolution misc Phenotypic Robustness misc Human CNVs
topic_unstemmed	misc Copy Number Variation misc Human Reference Genome misc Effective Resolution misc Phenotypic Robustness misc Human CNVs
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title	Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection
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title_full	Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection
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author_browse	Gokcumen, Omer Babb, Paul L Iskow, Rebecca C Zhu, Qihui Shi, Xinghua Mills, Ryan E Ionita-Laza, Iuliana Vallender, Eric J Clark, Andrew G Johnson, Welkin E Lee, Charles
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title_sort	refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection
title_auth	Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection
abstract	Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions. © Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (
abstractGer	Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions. © Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (
abstract_unstemmed	Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection. Conclusions These hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions. © Gokcumen O et al.; licensee BioMed Central Ltd 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (
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title_short	Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection
url	https://dx.doi.org/10.1186/gb-2011-12-5-r52
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author2	Babb, Paul L Iskow, Rebecca C Zhu, Qihui Shi, Xinghua Mills, Ryan E Ionita-Laza, Iuliana Vallender, Eric J Clark, Andrew G Johnson, Welkin E Lee, Charles
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This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. Results In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. 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Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection

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