Primate segmental duplications: crucibles of evolution, diversity and disease (Q34537505)

2 August 2017

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title

Primate segmental duplications: crucibles of evolution, diversity and disease (English)

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2 August 2017

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2

Evan E Eichler

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2 August 2017

Jeffrey A Bailey

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2 August 2017

publication date

13 June 2006

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2 August 2017

published in

Nature Reviews Genetics

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2 August 2017

volume

7

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2 August 2017

issue

7

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2 August 2017

page(s)

552-564

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Segmental duplications: organization and impact within the current human genome project assembly

2 August 2017

cites work

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Recent segmental and gene duplications in the mouse genome

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Recent segmental duplications in the working draft assembly of the brown Norway rat.

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Analysis of segmental duplications and genome assembly in the mouse

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A genome-wide comparison of recent chimpanzee and human segmental duplications

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A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications

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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

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Recent segmental duplications in the human genome

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Birth of two chimeric genes in the Hominidae lineage.

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Punctuated duplication seeding events during the evolution of human chromosome 2p11.

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Positive selection of a gene family during the emergence of humans and African apes

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Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation

21 January 2018

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Serial segmental duplications during primate evolution result in complex human genome architecture

21 January 2018

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Complex genomic rearrangements lead to novel primate gene function

21 January 2018

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A genome-wide survey of structural variation between human and chimpanzee

21 January 2018

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DNA sequence and analysis of human chromosome 9

21 January 2018

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Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome

21 January 2018

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Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p

21 January 2018

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Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q.

21 January 2018

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Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms.

21 January 2018

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Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

21 January 2018

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Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

21 January 2018

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Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

21 January 2018

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Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

21 January 2018

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Phylogenomic approaches to common problems encountered in the analysis of low copy repeats: the sulfotransferase 1A gene family example

21 January 2018

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Structural evolution of the BRCA1 genomic region in primates.

21 January 2018

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Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

21 January 2018

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Duplication processes in Saccharomyces cerevisiae haploid strains

21 January 2018

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An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

21 January 2018

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Duplication, coclustering, and selection of human Alu retrotransposons

21 January 2018

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Quantifying the mechanisms for segmental duplications in mammalian genomes by statistical analysis and modeling

21 January 2018

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Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

21 January 2018

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CAGGG repeats and the pericentromeric duplication of the hominoid genome

21 January 2018

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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

21 January 2018

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Genome architecture, rearrangements and genomic disorders

21 January 2018

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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

21 January 2018

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Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

21 January 2018

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21 January 2018

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Large-scale copy number polymorphism in the human genome

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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Segmental duplications and copy-number variation in the human genome

21 January 2018

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Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

21 January 2018

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Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome

21 January 2018

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Signatures of selection and gene conversion associated with human color vision variation

21 January 2018

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Dynamics of a human interparalog gene conversion hotspot

21 January 2018

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Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots

21 January 2018

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Intense and highly localized gene conversion activity in human meiotic crossover hot spots

21 January 2018

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Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot.

21 January 2018

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Evidence for widespread reticulate evolution within human duplicons

21 January 2018

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Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

21 January 2018

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Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin beta gene cluster.

21 January 2018

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Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

21 January 2018

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Variation among human 28S ribosomal RNA genes

21 January 2018

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

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Mutational mechanisms of Williams-Beuren syndrome deletions

21 January 2018

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Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

21 January 2018

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Lengths of chromosomal segments conserved since divergence of man and mouse

21 January 2018

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Genome rearrangements in mammalian evolution: lessons from human and mouse genomes

21 January 2018

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Evolution's cauldron: duplication, deletion, and rearrangement in the mouse and human genomes

21 January 2018

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Human and mouse genomic sequences reveal extensive breakpoint reuse in mammalian evolution

21 January 2018

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Reconstructing the genomic architecture of ancestral mammals: lessons from human, mouse, and rat genomes

21 January 2018

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Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

21 January 2018

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Hotspots of mammalian chromosomal evolution

21 January 2018

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Murine segmental duplications are hot spots for chromosome and gene evolution

21 January 2018

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Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps

21 January 2018

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The origin of man: a chromosomal pictorial legacy

21 January 2018

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The striking resemblance of high-resolution G-banded chromosomes of man and chimpanzee.

21 January 2018

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Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes

21 January 2018

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Genomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2.

21 January 2018

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Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).

21 January 2018

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Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

21 January 2018

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Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9.

21 January 2018

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Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster

21 January 2018

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Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans

21 January 2018

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Nucleotide sequence comparison of a chromosome rearrangement on human chromosome 12 and the corresponding ape chromosomes.

21 January 2018

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Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.

21 January 2018

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Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17

21 January 2018

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Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution

21 January 2018

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Chromosomal phylogeny and evolution of gibbons (Hylobatidae)

21 January 2018

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Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies

21 January 2018

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Lineage-specific gene duplication and loss in human and great ape evolution

21 January 2018

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21 January 2018

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Evolution from fish to mammals by gene duplication

21 January 2018

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Duplication and divergence: the evolution of new genes and old ideas

21 January 2018

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A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13.

21 January 2018

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Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13

21 January 2018

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Diverse fates of paralogs following segmental duplication of telomeric genes

21 January 2018

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Frequent DNA hypomethylation of human juxtacentromeric BAGE loci in cancer

21 January 2018

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Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

21 January 2018

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Regional patterns of gene expression in human and chimpanzee brains

21 January 2018

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Duplication and positive selection among hominin-specific PRAME genes

21 January 2018

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Duplication and selection in the evolution of primate beta-defensin genes

21 January 2018

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Structural variation in the human genome

21 January 2018

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Hotspots for copy number variation in chimpanzees and humans

21 January 2018

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Thalassemia and abnormal hemoglobin

21 January 2018

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The molecular basis of variation in human color vision

21 January 2018

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A common inversion under selection in Europeans

21 January 2018

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The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

21 January 2018

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Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

21 January 2018

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Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

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Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

21 January 2018

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Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

21 January 2018

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The Tre2 (USP6) oncogene is a hominoid-specific gene

21 January 2018

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Analysis of the DNA sequence and duplication history of human chromosome 15

21 January 2018

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The structure and evolution of centromeric transition regions within the human genome

21 January 2018

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Integration of telomere sequences with the draft human genome sequence

21 January 2018

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Patterns of Segmental Duplication in the Human Genome

21 January 2018

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Initial sequencing and analysis of the human genome

21 January 2018

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Shotgun sequence assembly and recent segmental duplications within the human genome

31 March 2020

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Finishing the euchromatic sequence of the human genome

31 March 2020

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The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome

31 March 2020

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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

31 March 2020

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Recombination hotspot in NF1 microdeletion patients

31 March 2020

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Initial sequence of the chimpanzee genome and comparison with the human genome

31 March 2020

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Evolutionary implications of pericentromeric gene expression in humans

31 March 2020

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Widening the spectrum of human genetic variation

31 March 2020

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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG1895

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Dimensions Publication ID

2 August 2017

1017304465

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