ArticleGenome research2004
Serial segmental duplications during primate evolution result in complex human genome architecture.
Article in Genome research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
57 citing papers in PubMed, 115 citations in OpenAlex.
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- PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.Genome biology · 2023Article
- Genome-wide detection of CNV regions between Anqing six-end-white and Duroc pigs.Molecular cytogenetics · 2023Article
- Formation of a Family of Long Intergenic Noncoding RNA Genes with an Embedded Translocation Breakpoint Motif in Human Chromosomal Low Copy Repeats of 22q11.2-Some Surprises and Questions.Non-coding RNA · 2018Article
- Article
- Genetic Approaches to Understanding Psychiatric Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2017Review
- The birth of a human-specific neural gene by incomplete duplication and gene fusion.Genome biology · 2017Article
- Structure, function, and genetics of lipoprotein (a).Journal of lipid research · 2016Review
- Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.PLoS genetics · 2015Article
- Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.American journal of human genetics · 2015Article
- Copy Number Variation at the APOL1 Locus.PloS one · 2015Article
- Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.BMC genomics · 2014Article
- 5'RUNX1-3'USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications.Molecular cytogenetics · 2014Article
- Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.Familial cancer · 2013Article
- Fine-scale signatures of molecular evolution reconcile models of indel-associated mutation.Genome biology and evolution · 2013Article
- Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.PLoS genetics · 2012Article
- Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.American journal of human genetics · 2011Article
- Copy number variations at the Prader-Willi syndrome region on chromosome 15 and associations with obesity in whites.Obesity (Silver Spring, Md.) · 2011Article
- Rad51 inhibits translocation formation by non-conservative homologous recombination in Saccharomyces cerevisiae.PloS one · 2010Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%-10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why the complex human genome architecture consisting of multiple LCRs has evolved remains an open question. Using molecular and computational analyses of human and primate genomic regions, we analyzed the structure and evolution of LCRs that resulted in complex architectural features of the human genome in proximal 17p. We found that multiple LCRs of different origins are situated adjacent to one another, whereas each LCR changed at different time points between >25 to 3-7 million years ago (Mya) during primate evolution. Evolutionary studies in primates suggested communication between the LCRs by gene conversion. The DNA transposable element MER1-Charlie3 and retroviral ERVL elements were identified at the breakpoint of the t(4;19) chromosome translocation in Gorilla gorilla, suggesting a potential role for transpositions in evolution of the primate genome. Thus, a series of consecutive segmental duplication events during primate evolution resulted in complex genome architecture in proximal 17p. Some of the more recent events led to the formation of novel genes that in human are expressed primarily in the brain. Our observations support the contention that serial segmental duplication events might have orchestrated primate evolution by the generation of novel fusion/fission genes as well as potentially by genomic inversions associated with decreased recombination rates facilitating gene divergence.
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Registered trials
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.