ArticleProceedings of the National Academy of Sciences of the United States of America2006
Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40 citing papers in PubMed, 83 citations in OpenAlex.
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- Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2016Article
- Mechanisms underlying structural variant formation in genomic disorders.Nature reviews. Genetics · 2016Review
- Genomic instability in the PARK2 locus is associated with Parkinson's disease.Journal of applied genetics · 2015Article
- Lineage specific evolution of the VNTR composite retrotransposon central domain and its role in retrotransposition of gibbon LAVA elements.BMC genomics · 2015Article
- Human gene copy number variation and infectious disease.Human genetics · 2014Review
- Coherent somatic mutation in autoimmune disease.PloS one · 2014Review
- Copy-number changes in evolution: rates, fitness effects and adaptive significance.Frontiers in genetics · 2013Review
- Meiotic recombination in mammals: localization and regulation.Nature reviews. Genetics · 2013Review
- Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.Human mutation · 2013Article
- Generation of tandem direct duplications by reversed-ends transposition of maize ac elements.PLoS genetics · 2013Article
- Review
- Web-based database and viewer of East asian copy number variations.Genomics & informatics · 2012Article
- A mathematical methodology for determining the temporal order of pathway alterations arising during gliomagenesis.PLoS computational biology · 2012Article
- Population genetics of malaria resistance in humans.Heredity · 2011Review
- Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster.The Journal of molecular diagnostics : JMD · 2011Article
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2 authors at 1 institution in 1 country.
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Abstract
Ectopic recombination between locally repeated DNA sequences is of fundamental importance in the evolution of gene families, generating copy-number variation in human DNA and often leading to pathological rearrangements. Despite its importance, little is known about the dynamics and processes of these unequal crossovers and the degree to which meiotic recombination plays a role in instability. We address this issue by using as a highly informative system the duplicated alpha-globin genes in which ectopic recombination can lead to gene deletions, often very prevalent in populations affected by malaria, as well as reduplications. Here we show that spontaneous deletions can be accessed directly in genomic DNA by using single-DNA-molecule methods. These deletions proved to be remarkably common in both blood and sperm. Somatic deletions arise by a strictly intrachromosomal pathway of homologous exchange that also operates in the germ line and can generate mutational mosaicism, whereas sperm deletions frequently involve recombinational interactions between homologous chromosomes that most likely occur at meiosis. Ectopic recombination frequencies show surprisingly little requirement for long, identical homology blocks shared by paralogous sequences, and exchanges can occur even between short regions of sequence identity. Finally, direct knowledge of germ-line deletion rates can give insights into the fitness of individuals with these alpha-globin gene deletions, providing a new approach to investigating historical levels of selection operating in human populations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.