ArticleGenome research2002
Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms.
Article in Genome research, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 25 citations in OpenAlex.
- Regulation potential of transcribed simple repeated sequences in developing neurons.Human genetics · 2024Article
- Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions.Genome research · 2008Article
- Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.Human genetics · 2006Article
- Evidence for widespread reticulate evolution within human duplicons.American journal of human genetics · 2005Article
- Punctuated duplication seeding events during the evolution of human chromosome 2p11.Genome research · 2005Article
- An Alu transposition model for the origin and expansion of human segmental duplications.American journal of human genetics · 2003Article
- Coincidence of synteny breakpoints with malignancy-related deletions on human chromosome 3.Proceedings of the National Academy of Sciences of the United States of America · 2003Article
- Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.Genome research · 2003Article
- Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p.Genome research · 2003Article
- Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.American journal of human genetics · 2002Article
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Authors and funding
11 authors at 1 institution in 2 countries.
Funding
Abstract
KIAA0187 is a gene of unknown function that maps to 10q11 and has been subject to recent duplication events. Here we analyze 18 human paralogs of this gene and show that paralogs of exons 14-23 were formed through satellite-associated pericentromeric-directed duplication, whereas paralogs of exons 1-9 were created via chromosome-specific satellite-independent duplications. In silico, Northern, and RT-PCR analyses indicate that nine paralogs are transcribed, including four in which KIAA0187 exons are spliced onto novel sequences. Despite this, no new genes appear to have been created by these events. The chromosome 10 paralogs map to 10q11, 10q22, 10q23.1, and 10q23.3, forming part of a complex family of chromosome-specific repeats that includes GLUD1, Cathepsin L, and KIAA1099 pseudogenes. Phylogenetic analyses and comparative FISH indicates that the 10q23.1 and 10q23.3 repeats were created in 10q11 and relocated by a paracentric inversion 13 to 27 Myr ago. Furthermore, the most recent duplications, involving the KIAA1099 pseudogenes, have largely been confined to 10q11. These results indicate a simple model for the evolution of this repeat family, involving multiple rounds of centromere-proximal duplication and dispersal through intrachromosomal rearrangement. However, more complex events must be invoked to account for high sequence identity between some paralogs.
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