ArticleAmerican journal of human genetics2002
Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.
Article in American journal of human genetics, 2002. 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, 170 citations in OpenAlex.
- Review
- TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.American journal of human genetics · 2022Article
- 22q11.2 Low Copy Repeats Expanded in the Human Lineage.Frontiers in genetics · 2021Article
- Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.The New England journal of medicine · 2019Review
- Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.Human genetics · 2019Article
- Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.American journal of medical genetics. Part A · 2018Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
- A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.Molecular psychiatry · 2017Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- Early evolutionary history and genomic features of gene duplicates in the human genome.BMC genomics · 2015Article
- Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.BMC genomics · 2014Article
- Hominoid fission of chromosome 14/15 and the role of segmental duplications.Genome research · 2013Article
- Using population admixture to help complete maps of the human genome.Nature genetics · 2013Article
- Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.American journal of human genetics · 2013Article
- Accelerating read mapping with FastHASH.BMC genomics · 2013Article
- Analysis of high-identity segmental duplications in the grapevine genome.BMC genomics · 2011Article
- Characterization of the past and current duplication activities in the human 22q11.2 region.BMC genomics · 2011Article
- An alternative approach to medical genetics based on modern evolutionary biology. Part 5: epigenetics and genomics.Journal of the Royal Society of Medicine · 2009Review
- Global discovery of primate-specific genes in the human genome.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
In recent decades, comparative chromosomal banding, chromosome painting, and gene-order studies have shown strong conservation of gross chromosome structure and gene order in mammals. However, findings from the human genome sequence suggest an unprecedented degree of recent (<35 million years ago) segmental duplication. This dynamism of segmental duplications has important implications in disease and evolution. Here we present a chromosome-wide view of the structure and evolution of the most highly homologous duplications (> or = 1 kb and > or = 90%) on chromosome 22. Overall, 10.8% (3.7/33.8 Mb) of chromosome 22 is duplicated, with an average sequence identity of 95.4%. To organize the duplications into tractable units, intron-exon structure and well-defined duplication boundaries were used to define 78 duplicated modules (minimally shared evolutionary segments) with 157 copies on chromosome 22. Analysis of these modules provides evidence for the creation or modification of 11 novel transcripts. Comparative FISH analyses of human, chimpanzee, gorilla, orangutan, and macaque reveal qualitative and quantitative differences in the distribution of these duplications--consistent with their recent origin. Several duplications appear to be human specific, including a approximately 400-kb duplication (99.4%-99.8% sequence identity) that transposed from chromosome 14 to the most proximal pericentromeric region of chromosome 22. Experimental and in silico data further support a pericentromeric gradient of duplications where the most recent duplications transpose adjacent to the centromere. Taken together, these data suggest that segmental duplications have been an ongoing process of primate genome evolution, contributing to recent gene innovation and the dynamic transformation of genome architecture within and among closely related species.
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