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PMID: 21771342 Published · epublish English Journal Article Research Support, Non-U.S. Gov't

Detection of copy number variations in rice using array-based comparative genomic hybridization.

BMC genomics ·Vol. 12 ·2011-07-20 ·Pages 372

Yu P, Wang C, Xu Q, Feng Y, Yuan X, Yu H, Wang Y, Tang S, Wei X

Abstract

Copy number variations (CNVs) can create new genes, change gene dosage, reshape gene structures, and modify elements regulating gene expression. As with all types of genetic variation, CNVs may influence phenotypic variation and gene expression. CNVs are thus considered major sources of genetic variation. Little is known, however, about their contribution to genetic variation in rice. To detect CNVs, we used a set of NimbleGen whole-genome comparative genomic hybridization arrays containing 718,256 oligonucleotide probes with a median probe spacing of 500 bp. We compiled a high-resolution map of CNVs in the rice genome, showing 641 CNVs between the genomes of the rice cultivars 'Nipponbare' (from O. sativa ssp. japonica) and 'Guang-lu-ai 4' (from O. sativa ssp. indica). The CNVs identified vary in size from 1.1 kb to 180.7 kb, and encompass approximately 7.6 Mb of the rice genome. The largest regions showing copy gain and loss are of 37.4 kb on chromosome 4, and 180.7 kb on chromosome 8. In addition, 85 DNA segments were identified, including some genic sequences. Contracted genes greatly outnumbered duplicated ones. Many of the contracted genes corresponded to either the same genes or genes involved in the same biological processes; this was also the case for genes involved in disease and defense. We detected CNVs in rice by array-based comparative genomic hybridization. These CNVs contain known genes. Further discussion of CNVs is important, as they are linked to variation among rice varieties, and are likely to contribute to subspecific characteristics.

MeSH Terms
Comparative Genomic Hybridization/methods DNA Copy Number Variations/genetics Genomics INDEL Mutation/genetics Oligonucleotide Array Sequence Analysis/methods Oligonucleotide Probes/genetics Oryza/genetics,growth & development Polymerase Chain Reaction Species Specificity
Chemicals
Oligonucleotide Probes
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Yu Ping
State Key Laboratory of Rice Biology, China National Rice Research Institute, Hangzhou, China.
Wang Caihong
Xu Qun
Feng Yue
Yuan Xiaoping
Yu Hanyong
Wang Yiping
Tang Shengxiang
Wei Xinghua
References (54)
54 references, click to expand
  1. Plant NBS-LRR proteins: adaptable guards.
    Genome Biol. 2006;7(4):212 PMID: 16677430
  2. Genome-wide amplifications caused by chromosomal rearrangements play a major role in the adaptive evolution of natural yeast.
    Genetics. 2003 Dec;165(4):1745-59 PMID: 14704163
  3. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.
    Nature. 2006 Feb 16;439(7078):851-5 PMID: 16482158
  4. The origins and impact of primate segmental duplications.
    Trends Genet. 2009 Oct;25(10):443-54 PMID: 19796838
  5. Mapping copy number variation by population-scale genome sequencing.
    Nature. 2011 Feb 3;470(7332):59-65 PMID: 21293372
  6. Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.
    Hum Genet. 2006 Sep;120(2):270-84 PMID: 16838144
  7. Personalized copy number and segmental duplication maps using next-generation sequencing.
    Nat Genet. 2009 Oct;41(10):1061-7 PMID: 19718026
  8. Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.
    Genes Chromosomes Cancer. 2005 Nov;44(3):305-19 PMID: 16075461
  9. Single-nucleotide mutation rate increases close to insertions/deletions in eukaryotes.
    Nature. 2008 Sep 4;455(7209):105-8 PMID: 18641631
  10. Integrated detection and population-genetic analysis of SNPs and copy number variation.
    Nat Genet. 2008 Oct;40(10):1166-74 PMID: 18776908
  11. Rapid recent growth and divergence of rice nuclear genomes.
    Proc Natl Acad Sci U S A. 2004 Aug 24;101(34):12404-10 PMID: 15240870
  12. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
    Nat Genet. 2008 Jun;40(6):722-9 PMID: 18438408
  13. CNV-seq, a new method to detect copy number variation using high-throughput sequencing.
    BMC Bioinformatics. 2009 Mar 06;10:80 PMID: 19267900
  14. Mapping DNA structural variation in dogs.
    Genome Res. 2009 Mar;19(3):500-9 PMID: 19015322
  15. High-resolution mapping of copy-number alterations with massively parallel sequencing.
    Nat Methods. 2009 Jan;6(1):99-103 PMID: 19043412
  16. A high-resolution map of segmental DNA copy number variation in the mouse genome.
    PLoS Genet. 2007 Jan 5;3(1):e3 PMID: 17206864
  17. Origins and functional impact of copy number variation in the human genome.
    Nature. 2010 Apr 1;464(7289):704-12 PMID: 19812545
  18. Maize inbreds exhibit high levels of copy number variation (CNV) and presence/absence variation (PAV) in genome content.
    PLoS Genet. 2009 Nov;5(11):e1000734 PMID: 19956538
  19. Copy number variation in human health, disease, and evolution.
    Annu Rev Genomics Hum Genet. 2009;10:451-81 PMID: 19715442
  20. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
    Science. 2005 Mar 4;307(5714):1434-40 PMID: 15637236
  21. Phylogenetic relationships among A-genome species of the genus Oryza revealed by intron sequences of four nuclear genes.
    New Phytol. 2005 Jul;167(1):249-65 PMID: 15948847
  22. Resistance gene complexes: evolution and utilization.
    Annu Rev Phytopathol. 2001;39:285-312 PMID: 11701867
  23. Challenges and standards in integrating surveys of structural variation.
    Nat Genet. 2007 Jul;39(7 Suppl):S7-15 PMID: 17597783
  24. Structural variation in the human genome.
    Nat Rev Genet. 2006 Feb;7(2):85-97 PMID: 16418744
  25. Detection of genomic deletions in rice using oligonucleotide microarrays.
    BMC Genomics. 2009 Mar 25;10:129 PMID: 19320995
  26. Identification and characterization of regions of the rice genome associated with broad-spectrum, quantitative disease resistance.
    Genetics. 2005 Apr;169(4):2277-93 PMID: 15716503
  27. QTL clusters reflect character associations in wild and cultivated rice.
    Theor Appl Genet. 2002 Jun;104(8):1217-1228 PMID: 12582574
  28. Copy number variation in the bovine genome.
    BMC Genomics. 2010 May 06;11:284 PMID: 20459598
  29. Allelic genome structural variations in maize detected by array comparative genome hybridization.
    Theor Appl Genet. 2010 Jan;120(2):355-67 PMID: 19756477
  30. Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies.
    Hum Mol Genet. 2008 Apr 15;17(8):1127-36 PMID: 18180252
  31. A genome-wide meta-analysis of rice blast resistance genes and quantitative trait loci provides new insights into partial and complete resistance.
    Mol Plant Microbe Interact. 2008 Jul;21(7):859-68 PMID: 18533827
  32. Mapping translocation breakpoints by next-generation sequencing.
    Genome Res. 2008 Jul;18(7):1143-9 PMID: 18326688
  33. Copy number variants, diseases and gene expression.
    Hum Mol Genet. 2009 Apr 15;18(R1):R1-8 PMID: 19297395
  34. Relative impact of nucleotide and copy number variation on gene expression phenotypes.
    Science. 2007 Feb 9;315(5813):848-53 PMID: 17289997
  35. Segmental duplications and copy-number variation in the human genome.
    Am J Hum Genet. 2005 Jul;77(1):78-88 PMID: 15918152
  36. Using expression arrays for copy number detection: an example from E. coli.
    BMC Bioinformatics. 2007 Jun 14;8:203 PMID: 17570850
  37. Single feature polymorphism discovery in rice.
    PLoS One. 2007 Mar 14;2(3):e284 PMID: 17372626
  38. Identification and characterization of nucleotide-binding site-leucine-rich repeat genes in the model plant Medicago truncatula.
    Plant Physiol. 2008 Jan;146(1):5-21 PMID: 17981990
  39. Mouse segmental duplication and copy number variation.
    Nat Genet. 2008 Jul;40(7):909-14 PMID: 18500340
  40. Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster.
    Science. 2008 Jun 20;320(5883):1629-31 PMID: 18535209
  41. Circular binary segmentation for the analysis of array-based DNA copy number data.
    Biostatistics. 2004 Oct;5(4):557-72 PMID: 15475419
  42. Identification of SNPs in the waxy gene among glutinous rice cultivars and their evolutionary significance during the domestication process of rice.
    Theor Appl Genet. 2004 May;108(7):1200-4 PMID: 14740088
  43. Detection of large-scale variation in the human genome.
    Nat Genet. 2004 Sep;36(9):949-51 PMID: 15286789
  44. Regulatory change in YABBY-like transcription factor led to evolution of extreme fruit size during tomato domestication.
    Nat Genet. 2008 Jun;40(6):800-4 PMID: 18469814
  45. Development of genome-wide DNA polymorphism database for map-based cloning of rice genes.
    Plant Physiol. 2004 Jul;135(3):1198-205 PMID: 15266053
  46. Paired-end mapping reveals extensive structural variation in the human genome.
    Science. 2007 Oct 19;318(5849):420-6 PMID: 17901297
  47. THE BAR "GENE" A DUPLICATION.
    Science. 1936 Feb 28;83(2148):210-1 PMID: 17796454
  48. Diversity of human copy number variation and multicopy genes.
    Science. 2010 Oct 29;330(6004):641-6 PMID: 21030649
  49. Copy number variation and evolution in humans and chimpanzees.
    Genome Res. 2008 Nov;18(11):1698-710 PMID: 18775914
  50. Analysis of copy number variations among diverse cattle breeds.
    Genome Res. 2010 May;20(5):693-703 PMID: 20212021
  51. Distribution and functional impact of DNA copy number variation in the rat.
    Nat Genet. 2008 May;40(5):538-45 PMID: 18443591
  52. Global variation in copy number in the human genome.
    Nature. 2006 Nov 23;444(7118):444-54 PMID: 17122850
  53. Genomic paleontology provides evidence for two distinct origins of Asian rice (Oryza sativa L.).
    Mol Genet Genomics. 2004 Dec;272(5):504-11 PMID: 15503144
  54. An SNP resource for rice genetics and breeding based on subspecies indica and japonica genome alignments.
    Genome Res. 2004 Sep;14(9):1812-9 PMID: 15342564
Article Info
Journal
BMC genomics
Abbr.
BMC Genomics
ISSN
1471-2164
Published
2011-07-20
Epub
2011-00-20
Pages
372
Language
English
Region
England
NLM ID
100965258
PMCID
PMC3156786
Subset
IM
Analysis Services
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