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Letter. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms

Letter. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms
Letter. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms
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.
1088-9051
67-80
Crosier, Moira
c3160b49-8f26-4edd-b3af-342142f87db3
Viggiano, Luigi
06a31fa7-f64f-43e7-a448-fef21c839672
Guy, Jane
2680281b-32fe-400b-9f27-f426543e0789
Misceo, Doriana
1932fe2a-3b37-4792-8abd-54bf3ec676a1
Stones, Robert
422e19f6-71c2-4c08-b296-ccf933bdf728
Wei, Wenbin
9e2de5e2-93b8-4468-adaf-1bc47bafcec9
Hearn, Tom
2665cc10-6632-47cb-9460-bd0ea745380e
Ventura, Mario
e9a630e7-9c99-4a49-a4b3-7e40368ab213
Archidiacono, Nicoletta
5d0ecde5-d1fc-4cbd-8cd5-9ec08cacf7ac
Rocchi, Mariano
18aec2f7-f0d3-42e4-a683-1c817a3a5e3b
Jackson, Michael S.
0ea137e8-2706-417c-80d3-50e4746b14a5
Crosier, Moira
c3160b49-8f26-4edd-b3af-342142f87db3
Viggiano, Luigi
06a31fa7-f64f-43e7-a448-fef21c839672
Guy, Jane
2680281b-32fe-400b-9f27-f426543e0789
Misceo, Doriana
1932fe2a-3b37-4792-8abd-54bf3ec676a1
Stones, Robert
422e19f6-71c2-4c08-b296-ccf933bdf728
Wei, Wenbin
9e2de5e2-93b8-4468-adaf-1bc47bafcec9
Hearn, Tom
2665cc10-6632-47cb-9460-bd0ea745380e
Ventura, Mario
e9a630e7-9c99-4a49-a4b3-7e40368ab213
Archidiacono, Nicoletta
5d0ecde5-d1fc-4cbd-8cd5-9ec08cacf7ac
Rocchi, Mariano
18aec2f7-f0d3-42e4-a683-1c817a3a5e3b
Jackson, Michael S.
0ea137e8-2706-417c-80d3-50e4746b14a5

Crosier, Moira, Viggiano, Luigi, Guy, Jane, Misceo, Doriana, Stones, Robert, Wei, Wenbin, Hearn, Tom, Ventura, Mario, Archidiacono, Nicoletta, Rocchi, Mariano and Jackson, Michael S. (2002) Letter. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Research, 12 (1), 67-80. (doi:10.1101/gr.213702).

Record type: Article

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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Published date: 2002

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Local EPrints ID: 24668
URI: http://eprints.soton.ac.uk/id/eprint/24668
ISSN: 1088-9051
PURE UUID: af06f05f-2f83-4050-9973-c392a6f26997

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Date deposited: 03 Apr 2006
Last modified: 15 Jul 2019 19:17

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Contributors

Author: Moira Crosier
Author: Luigi Viggiano
Author: Jane Guy
Author: Doriana Misceo
Author: Robert Stones
Author: Wenbin Wei
Author: Tom Hearn
Author: Mario Ventura
Author: Nicoletta Archidiacono
Author: Mariano Rocchi
Author: Michael S. Jackson

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