Structural variation mutagenesis of the human genome: Impact on disease and evolution

Environmental and Molecular Mutagenesis
James R Lupski

Abstract

Watson-Crick base-pair changes, or single-nucleotide variants (SNV), have long been known as a source of mutations. However, the extent to which DNA structural variation, including duplication and deletion copy number variants (CNV) and copy number neutral inversions and translocations, contribute to human genome variation and disease has been appreciated only recently. Moreover, the potential complexity of structural variants (SV) was not envisioned; thus, the frequency of complex genomic rearrangements and how such events form remained a mystery. The concept of genomic disorders, diseases due to genomic rearrangements and not sequence-based changes for which genomic architecture incite genomic instability, delineated a new category of conditions distinct from chromosomal syndromes and single-gene Mendelian diseases. Nevertheless, it is the mechanistic understanding of CNV/SV formation that has promoted further understanding of human biology and disease and provided insights into human genome and gene evolution. Environ. Mol. Mutagen. 56:419-436, 2015. © 2015 Wiley Periodicals, Inc.

References

Apr 1, 1992·Nature Genetics·J R LupskiP I Patel
Apr 11, 1986·Science·J NathansD S Hogness
Apr 17, 1980·Nature·D R HiggsD J Weatherall
Jul 8, 1993·The New England Journal of Medicine·B B RoaJ R Lupski
Jan 1, 1997·Journal of Medical Genetics·V TimmermanC Van Broeckhoven
Mar 10, 2001·Nature·E S LanderUNKNOWN International Human Genome Sequencing Consortium
Jan 31, 2002·Trends in Genetics : TIG·Paweł Stankiewicz, James R Lupski
Jan 1, 1958·Cold Spring Harbor Symposia on Quantitative Biology·M MESELSON, F W STAHL
Nov 24, 1960·The New England Journal of Medicine·K HIRSCHHORNH L COOPER
Jul 27, 2004·Science·Jonathan SebatMichael Wigler
Aug 3, 2004·Nature Genetics·A John IafrateCharles Lee
Oct 22, 2004·Nature·UNKNOWN International Human Genome Sequencing Consortium
Oct 7, 2006·The Journal of Clinical Investigation·Katherina WalzJames R Lupski
Nov 24, 2006·Nature·Richard RedonMatthew E Hurles
Sep 5, 2007·Nature Genetics·James R Lupski
Jul 4, 2007·American Journal of Medical Genetics. Part a·Sau W CheungV Reid Sutton
Feb 28, 1936·Science·C B Bridges
Sep 11, 2007·Nature Genetics·George H PerryAnne C Stone
Nov 17, 2007·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·James R Lupski
Jan 11, 2008·The New England Journal of Medicine·Lauren A WeissUNKNOWN Autism Consortium
Apr 19, 2008·Nature·David A WheelerJonathan M Rothberg

❮ Previous
Next ❯

Citations

Jul 30, 2015·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Samuel Tremblay-BelzileNormand Brisson
Jul 15, 2015·Human Molecular Genetics·Feng Zhang, James R Lupski
May 26, 2016·Human Genetics·James R Lupski
Dec 4, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ranad ShaheenFowzan S Alkuraya
Aug 4, 2016·The Journal of Allergy and Clinical Immunology·Hui YuLee-Jun Wong
Dec 17, 2016·Nucleic Acids Research·Tomasz GambinJames R Lupski
May 2, 2018·Nature Methods·Fritz J SedlazeckMichael C Schatz
Jul 23, 2016·Environmental Health Perspectives·Matthew J MeierFrancesco Marchetti
Oct 26, 2018·Environmental and Molecular Mutagenesis·Ulrike LudererFrancesco Marchetti
Dec 14, 2018·Journal of the Endocrine Society·Giampaolo TrivellinConstantine A Stratakis
Jul 26, 2019·American Journal of Medical Genetics. Part a·Kevin KaplanLorraine Potocki
Oct 8, 2015·Nature Reviews. Genetics·Mark J P ChaissonEvan E Eichler
Sep 29, 2019·Molecular Biology and Evolution·Jesper EisfeldtAnna Lindstrand
Feb 7, 2020·Aging Clinical and Experimental Research·Giulia GentileSebastiano Cavallaro
Nov 18, 2015·Current Opinion in Endocrinology, Diabetes, and Obesity·Maya B LodishConstantine A Stratakis
May 22, 2020·Bioinformatics·Lolita LecompteClaire Lemaitre
Mar 31, 2018·Nature Reviews. Genetics·Fritz J SedlazeckMichael C Schatz
Sep 27, 2019·International Journal of Molecular Sciences·Galina HovhannisyanThomas Liehr
Aug 5, 2020·Genome Biology·Tao JiangYadong Wang
Jan 14, 2018·Journal of Neurodevelopmental Disorders·Stacey BissellChris Oliver
Dec 20, 2018·Molecular Genetics & Genomic Medicine·Ruen YaoYiping Shen
Mar 19, 2020·Neurology. Genetics·Julia PytteP Anthony Akkari
May 8, 2018·Current Genetic Medicine Reports·Tamim H Shaikh
Sep 9, 2019·GigaScience·Varuna ChanderFritz J Sedlazeck
Jun 27, 2019·Orphanet Journal of Rare Diseases·Jennifer E Posey
Sep 28, 2017·Clinical Genetics·T Harel, J R Lupski
Apr 7, 2017·Annals of Clinical and Translational Neurology·David S WangMichael E Shy
Oct 9, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Andrew M GrossRyan J Taft
Nov 8, 2017·Nature Communications·Mircea Cretu StancuWigard P Kloosterman
Sep 3, 2020·The Journal of Biological Chemistry·Rujuta Yashodhan GadgilMichael Leffak

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Epigenetics Insights from Twin Studies

Find the latest research on epigenetics and twin studies here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Regulation of Vocal-Motor Plasticity

Dopaminergic projections to the basal ganglia and nucleus accumbens shape the learning and plasticity of motivated behaviors across species including the regulation of vocal-motor plasticity and performance in songbirds. Discover the latest research on the regulation of vocal-motor plasticity here.

Myocardial Stunning

Myocardial stunning is a mechanical dysfunction that persists after reperfusion of previously ischemic tissue in the absence of irreversible damage including myocardial necrosis. Here is the latest research.