An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health
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Title
An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health
Authors
Keywords
Genomic structural variation, Recurrence, Evolutionary medicine, Genome evolution, Mutational hotspots
Journal
JOURNAL OF MOLECULAR EVOLUTION
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-09-14
DOI
10.1007/s00239-019-09911-6
References
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Note: Only part of the references are listed.- Expression changes of structural protein genes may be related to adaptive skin characteristics specific to humans
- (2019) Nami Arakawa et al. Genome Biology and Evolution
- Fine-scale characterization of genomic structural variation in the human genome reveals adaptive and biomedically relevant hotspots
- (2019) Yen-Lung Lin et al. Genome Biology and Evolution
- Human Salivary Amylase Gene Copy Number Impacts Oral and Gut Microbiomes
- (2019) Angela C. Poole et al. Cell Host & Microbe
- Resolving the insertion sites of polymorphic duplications reveals a HERC2 haplotype under selection
- (2019) M Saitou et al. Genome Biology and Evolution
- Independent amylase gene copy number bursts correlate with dietary preferences in mammals
- (2019) Petar Pajic et al. eLife
- CCR5-∆32 is deleterious in the homozygous state in humans
- (2019) Xinzhu Wei et al. NATURE MEDICINE
- Genomics of disease risk in globally diverse populations
- (2019) Deepti Gurdasani et al. NATURE REVIEWS GENETICS
- Genetic Variation, Comparative Genomics, and the Diagnosis of Disease
- (2019) Evan E. Eichler NEW ENGLAND JOURNAL OF MEDICINE
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- (2019) Mark J. P. Chaisson et al. Nature Communications
- OUP accepted manuscript
- (2018) AMERICAN JOURNAL OF CLINICAL NUTRITION
- Complex evolution of the GSTM gene family involves sharing of GSTM1 deletion polymorphism in humans and chimpanzees
- (2018) M. Saitou et al. BMC GENOMICS
- Noninvasive Immunohistochemical Diagnosis and NovelMUC1Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
- (2018) Martina Živná et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Acceleration of Olfactory Receptor Gene Loss in Primate Evolution: Possible Link to Anatomical Change in Sensory Systems and Dietary Transition
- (2018) Yoshihito Niimura et al. MOLECULAR BIOLOGY AND EVOLUTION
- Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
- (2018) Andrea Wenzel et al. Scientific Reports
- Complex Haplotypes ofGSTM1Gene Deletions Harbor Signatures of a Selective Sweep in East Asian Populations
- (2018) Marie Saitou et al. G3-Genes Genomes Genetics
- Shades of complexity: New perspectives on the evolution and genetic architecture of human skin
- (2018) Ellen E. Quillen et al. AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY
- Assembly of a pan-genome from deep sequencing of 910 humans of African descent
- (2018) Rachel M. Sherman et al. NATURE GENETICS
- Human Accelerated Regions and Other Human-Specific Sequence Variations in the Context of Evolution and Their Relevance for Brain Development
- (2017) Anastasia Levchenko et al. Genome Biology and Evolution
- Transposable elements are the primary source of novelty in primate gene regulation
- (2017) Marco Trizzino et al. GENOME RESEARCH
- Combination of 247 Genome-Wide Association Studies Reveals High Cancer Risk as a Result of Evolutionary Adaptation
- (2017) Konstantinos Voskarides MOLECULAR BIOLOGY AND EVOLUTION
- Archaic Hominin Introgression in Africa Contributes to Functional Salivary MUC7 Genetic Variation
- (2017) Duo Xu et al. MOLECULAR BIOLOGY AND EVOLUTION
- Non-homologous DNA end joining and alternative pathways to double-strand break repair
- (2017) Howard H. Y. Chang et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- The psoriasis-associated deletion of late cornified envelope genes LCE3B and LCE3C has been maintained under balancing selection since Human Denisovan divergence
- (2016) Petar Pajic et al. BMC EVOLUTIONARY BIOLOGY
- Atopic Dermatitis Susceptibility Variants in FilaggrinHitchhikeHornerin Selective Sweep
- (2016) Muthukrishnan Eaaswarkhanth et al. Genome Biology and Evolution
- Discovery and genotyping of structural variation from long-read haploid genome sequence data
- (2016) John Huddleston et al. GENOME RESEARCH
- Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels
- (2016) Linda M Boettger et al. NATURE GENETICS
- Regulatory activities of transposable elements: from conflicts to benefits
- (2016) Edward B. Chuong et al. NATURE REVIEWS GENETICS
- GSTM1 copy number variation in the context of single nucleotide polymorphisms in the human GSTM cluster
- (2016) Andrey V. Khrunin et al. Molecular Cytogenetics
- Low AMY1 Gene Copy Number Is Associated with Increased Body Mass Index in Prepubertal Boys
- (2016) M. Loredana Marcovecchio et al. PLoS One
- Recent evolution of the salivary mucin MUC7
- (2016) Duo Xu et al. Scientific Reports
- Salivary amylase – The enzyme of unspecialized euryphagous animals
- (2015) Carolin Boehlke et al. ARCHIVES OF ORAL BIOLOGY
- Global Survey of Variation in a Human Olfactory Receptor Gene Reveals Signatures of Non-Neutral Evolution
- (2015) Kara C. Hoover et al. CHEMICAL SENSES
- A comprehensive review of UDP-glucuronosyltransferase and esterases for drug development
- (2015) Shingo Oda et al. Drug Metabolism and Pharmacokinetics
- Divergence patterns of genic copy number variation in natural populations of the house mouse (Mus musculus domesticus) reveal three conserved genes with major population-specific expansions
- (2015) Željka Pezer et al. GENOME RESEARCH
- Exploring the role and diversity of mucins in health and disease with special insight into non-communicable diseases
- (2015) Santosh Kumar Behera et al. GLYCOCONJUGATE JOURNAL
- Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
- (2015) Shen Gu et al. HUMAN MOLECULAR GENETICS
- The Time Scale of Recombination Rate Evolution in Great Apes
- (2015) Laurie S. Stevison et al. MOLECULAR BIOLOGY AND EVOLUTION
- The Evolution and Functional Impact of Human Deletion Variants Shared with Archaic Hominin Genomes
- (2015) Yen-Lung Lin et al. MOLECULAR BIOLOGY AND EVOLUTION
- Human Adaptation to Arsenic-Rich Environments
- (2015) Carina M. Schlebusch et al. MOLECULAR BIOLOGY AND EVOLUTION
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity
- (2015) Christina L Usher et al. NATURE GENETICS
- PharmGKB summary
- (2015) Liudmila L. Mazaleuskaya et al. Pharmacogenetics and Genomics
- The roles of AMY1 copies and protein expression in human salivary α-amylase activity
- (2015) Ze-Min Yang et al. PHYSIOLOGY & BEHAVIOR
- Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
- (2015) Heli Viljakainen et al. PLoS One
- Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy
- (2015) Shamik Polley et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Human Structural Variation: Mechanisms of Chromosome Rearrangements
- (2015) Brooke Weckselblatt et al. TRENDS IN GENETICS
- Whole-genome CNV analysis: advances in computational approaches
- (2015) Mehdi Pirooznia et al. Frontiers in Genetics
- Lactase persistence and augmented salivary alpha-amylase gene copy numbers might have been selected by the combined toxic effects of gluten and (food born) pathogens
- (2014) Leo Pruimboom et al. MEDICAL HYPOTHESES
- A Cluster of Olfactory Receptor Genes Linked to Frugivory in Bats
- (2014) Sara Hayden et al. MOLECULAR BIOLOGY AND EVOLUTION
- Deep Conservation of Human Protein Tandem Repeats within the Eukaryotes
- (2014) Elke Schaper et al. MOLECULAR BIOLOGY AND EVOLUTION
- Low copy number of the salivary amylase gene predisposes to obesity
- (2014) Mario Falchi et al. NATURE GENETICS
- Lack of Association between Intact/Deletion Polymorphisms of the APOBEC3B Gene and HIV-1 Risk
- (2014) Mayumi Imahashi et al. PLoS One
- Haptoglobin, hemopexin, and related defense pathways—basic science, clinical perspectives, and drug development
- (2014) Dominik J. Schaer et al. Frontiers in Physiology
- The challenges and importance of structural variation detection in livestock
- (2014) Derek M. Bickhart et al. Frontiers in Genetics
- Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives
- (2013) Min Zhao et al. BMC BIOINFORMATICS
- Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication
- (2013) Yogesh Paudel et al. BMC GENOMICS
- Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization
- (2013) Elena A. Repnikova et al. Forensic Science International-Genetics
- Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division
- (2013) A. Abyzov et al. GENOME RESEARCH
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
- (2013) Andrew Kirby et al. NATURE GENETICS
- The missense of smell: functional variability in the human odorant receptor repertoire
- (2013) Joel D Mainland et al. NATURE NEUROSCIENCE
- Primate genome architecture influences structural variation mechanisms and functional consequences
- (2013) O. Gokcumen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Multiple Instances of Ancient Balancing Selection Shared Between Humans and Chimpanzees
- (2013) E. M. Leffler et al. SCIENCE
- Rules of Engagement: Molecular Insights from Host-Virus Arms Races
- (2012) Matthew D. Daugherty et al. Annual Review of Genetics
- PHASE II DRUG METABOLIZING ENZYMES
- (2012) Petra Jancova et al. BIOMEDICAL PAPERS-OLOMOUC
- Copy number variation leads to considerable diversity for B but not A haplotypes of the human KIR genes encoding NK cell receptors
- (2012) W. Jiang et al. GENOME RESEARCH
- Evidence of associations of APOBEC3B gene deletion with susceptibility to persistent HBV infection and hepatocellular carcinoma
- (2012) T. Zhang et al. HUMAN MOLECULAR GENETICS
- Salivary Defense Proteins: Their Network and Role in Innate and Acquired Oral Immunity
- (2012) Tibor Károly Fábián et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Genome-Wide Analysis of mir-548 Gene Family Reveals Evolutionary and Functional Implications
- (2012) Tingming Liang et al. JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY
- Copy Number Polymorphism of the Salivary Amylase Gene: Implications in Human Nutrition Research
- (2012) J.L. Santos et al. Journal of Nutrigenetics and Nutrigenomics
- "Orphan" Retrogenes in the Human Genome
- (2012) J. Ciomborowska et al. MOLECULAR BIOLOGY AND EVOLUTION
- Landscape of Somatic Retrotransposition in Human Cancers
- (2012) E. Lee et al. SCIENCE
- Exploring the role of copy number variants in human adaptation
- (2012) Rebecca C. Iskow et al. TRENDS IN GENETICS
- Human Copy Number Variation and Complex Genetic Disease
- (2011) Santhosh Girirajan et al. Annual Review of Genetics
- Deletion of the APOBEC3B gene strongly impacts susceptibility to falciparum malaria
- (2011) Pankaj Jha et al. INFECTION GENETICS AND EVOLUTION
- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection
- (2011) Omer Gokcumen et al. GENOME BIOLOGY
- Identification of Copy Number Variation Hotspots in Human Populations
- (2010) Wenqing Fu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- Function of UDP-glucuronosyltransferase 2B17 (UGT2B17) is involved in endometrial cancer
- (2010) Hiroshi Hirata et al. CARCINOGENESIS
- Deleted in Malignant Brain Tumors-1 Protein (DMBT1): A Pattern Recognition Receptor with Multiple Binding Sites
- (2010) Antoon J. M. Ligtenberg et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- No Evidence of an Association between theAPOBEC3BDeletion Polymorphism and Susceptibility to HIV Infection and AIDS in Japanese and Indian Populations
- (2010) Sakiko Itaya et al. JOURNAL OF INFECTIOUS DISEASES
- Human Common Salivary Protein 1 (CSP-1) Promotes Binding ofStreptococcus mutansto Experimental Salivary Pellicle and Glucans Formed on Hydroxyapatite Surface
- (2010) Kiran S. Ambatipudi et al. JOURNAL OF PROTEOME RESEARCH
- Degeneration of Olfactory Receptor Gene Repertories in Primates: No Direct Link to Full Trichromatic Vision
- (2010) A. Matsui et al. MOLECULAR BIOLOGY AND EVOLUTION
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
- (2010) Nathaniel Rothman et al. NATURE GENETICS
- Individual Differences in AMY1 Gene Copy Number, Salivary α-Amylase Levels, and the Perception of Oral Starch
- (2010) Abigail L. Mandel et al. PLoS One
- Gene copy-number polymorphism in nature
- (2010) D. R. Schrider et al. PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- Diversity of Human Copy Number Variation and Multicopy Genes
- (2010) Peter H. Sudmant et al. SCIENCE
- Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
- (2010) Heather C. Mefford et al. PLoS Genetics
- Human and Non-Human Primate Genomes Share Hotspots of Positive Selection
- (2010) David Enard et al. PLoS Genetics
- Towards a comprehensive structural variation map of an individual human genome
- (2010) Andy W Pang et al. GENOME BIOLOGY
- Copy number variation in the human genome and its implication in autoimmunity
- (2009) H. Schaschl et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Functional and clinical consequences of Fc receptor polymorphic and copy number variants
- (2009) S. Bournazos et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Structure and functions of keratin proteins in simple, stratified, keratinized and cornified epithelia
- (2009) Hermann H. Bragulla et al. JOURNAL OF ANATOMY
- APOBEC3BDeletion and Risk of HIV‐1 Acquisition
- (2009) Ping An et al. JOURNAL OF INFECTIOUS DISEASES
- Evolutionary Origin and Functions of Retrogene Introns
- (2009) M. Fablet et al. MOLECULAR BIOLOGY AND EVOLUTION
- A burst of segmental duplications in the genome of the African great ape ancestor
- (2009) Tomas Marques-Bonet et al. NATURE
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
- (2009) Rafael de Cid et al. NATURE GENETICS
- Mechanisms of change in gene copy number
- (2009) P. J. Hastings et al. NATURE REVIEWS GENETICS
- The impact of retrotransposons on human genome evolution
- (2009) Richard Cordaux et al. NATURE REVIEWS GENETICS
- Genome-wide scans for footprints of natural selection
- (2009) T. K. Oleksyk et al. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- Adaptive Evolution of UGT2B17 Copy-Number Variation
- (2008) Yali Xue et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Extensive Copy-Number Variation of the Human Olfactory Receptor Gene Family
- (2008) Janet M. Young et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Directional and balancing selection in human beta-defensins
- (2008) Edward J Hollox et al. BMC EVOLUTIONARY BIOLOGY
- Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history
- (2008) P. M. Kim et al. GENOME RESEARCH
- The human keratins: biology and pathology
- (2008) Roland Moll et al. HISTOCHEMISTRY AND CELL BIOLOGY
- Similar Numbers but Different Repertoires of Olfactory Receptor Genes in Humans and Chimpanzees
- (2008) Y. Go et al. MOLECULAR BIOLOGY AND EVOLUTION
- Human uniqueness: genome interactions with environment, behaviour and culture
- (2008) Ajit Varki et al. NATURE REVIEWS GENETICS
- Transposable elements and the evolution of regulatory networks
- (2008) Cédric Feschotte NATURE REVIEWS GENETICS
- The evolution of animal chemosensory receptor gene repertoires: roles of chance and necessity
- (2008) Masatoshi Nei et al. NATURE REVIEWS GENETICS
- Linkage disequilibrium — understanding the evolutionary past and mapping the medical future
- (2008) Montgomery Slatkin NATURE REVIEWS GENETICS
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