Serial segmental duplications during primate evolution result in complex human genome architecture. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q37600502

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Duplication and relocation of the functional DPY19L2 gene within low copy repeats Mechanisms of change in gene copy number DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype Unusual linkage patterns of ligands and their cognate receptors indicate a novel reason for non-random gene order in the human genome Fine-scale signatures of molecular evolution reconcile models of indel-associated mutation Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements.Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome.Chromosomal evolution of the PKD1 gene family in primates.Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids A microhomology-mediated break-induced replication model for the origin of human copy number variation.Rad51 inhibits translocation formation by non-conservative homologous recombination in Saccharomyces cerevisiae.Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.Punctuated duplication seeding events during the evolution of human chromosome 2p11.Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.The evolution of human segmental duplications and the core duplicon hypothesis.A genome-wide survey of structural variation between human and chimpanzee.Evidence for widespread reticulate evolution within human duplicons Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.Primate segmental duplications: crucibles of evolution, diversity and disease.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications Recurrent duplication-driven transposition of DNA during hominoid evolution.A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.Copy Number Variation at the APOL1 Locus.Is mammalian chromosomal evolution driven by regions of genome fragility?Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies Copy number variations at the Prader-Willi syndrome region on chromosome 15 and associations with obesity in whites.Pharmacogenomics and therapeutic prospects in Alzheimer's disease.How homologous recombination generates a mutable genome.Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Genomic disorders ten years on.Pharmacogenomics and therapeutic strategies for dementia.The birth of a human-specific neural gene by incomplete duplication and gene fusion.A local duplication of the <i>Melanocortin receptor 1</i> locus in <i>Astyanax</i>.

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P2860

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

http://www.wikidata.org/entity/Q37600502

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2004 nî lūn-bûn

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Serial segmental duplications ...... lex human genome architecture.

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Genome Research

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Christine J Shaw

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James R Lupski

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Ken Inoue

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Marjorie Withers

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Pawełl Stankiewicz

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P2860

Initial sequencing and analysis of the human genome

Testing the chromosomal speciation hypothesis for humans and chimpanzees

The Sequence of the Human Genome

Implications of natural selection in shaping 99.4% nonsynonymous DNA identity between humans and chimpanzees: enlarging genus Homo

Divergence between samples of chimpanzee and human DNA sequences is 5%, counting indels

Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

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

Hotspots of mammalian chromosomal evolution

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

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