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

Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms
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.
linkage (genetics), genetic, pongo pygmaeus, letter, pseudogenes, comparative study, non-u.s.gov't, exons, pair 10, x chromosome, expressed sequence tags, evolution, human, genes, gene duplication, genetics, family, molecular sequence data, macaca mulatta, inversion, centromere, humans, animals, physical chromosome mapping, pan troglodytes, chromosome, research support, chromosomes, models, molecular
1088-9051
67-80
Crosier, M.
d5abb69c-8353-4164-8444-8d3e7bbb1f1e
Viggiano, L.
e1bafff7-2db2-48e4-8cdc-0f0c1a5ceff0
Guy, J.
988d8cfb-8a2c-4c9c-b316-6cfa562e00a3
Misceo, D.
19392975-f8dc-4ec7-8c5f-2abbc8e77dd7
Stones, R.
eaaf8284-66af-4f0b-816b-ec9187d1133d
Wei, W.
c8964a0e-634a-408b-8d5c-c77238f3046d
Hearn, T.
b4714fee-dc23-414f-afc6-11e7670ca8b3
Ventura, M.
7facc630-7adb-4680-8595-7968f9d27c82
Archidiacono, N.
4fa45723-0348-41f1-97d0-7016bd645494
Rocchi, M.
e1fb33db-eb2d-418f-a380-e49d4aa82bc3
Jackson, M.S.
fb309c89-0b3a-490e-b198-ac140fa5e34b
Crosier, M.
d5abb69c-8353-4164-8444-8d3e7bbb1f1e
Viggiano, L.
e1bafff7-2db2-48e4-8cdc-0f0c1a5ceff0
Guy, J.
988d8cfb-8a2c-4c9c-b316-6cfa562e00a3
Misceo, D.
19392975-f8dc-4ec7-8c5f-2abbc8e77dd7
Stones, R.
eaaf8284-66af-4f0b-816b-ec9187d1133d
Wei, W.
c8964a0e-634a-408b-8d5c-c77238f3046d
Hearn, T.
b4714fee-dc23-414f-afc6-11e7670ca8b3
Ventura, M.
7facc630-7adb-4680-8595-7968f9d27c82
Archidiacono, N.
4fa45723-0348-41f1-97d0-7016bd645494
Rocchi, M.
e1fb33db-eb2d-418f-a380-e49d4aa82bc3
Jackson, M.S.
fb309c89-0b3a-490e-b198-ac140fa5e34b

Crosier, M., Viggiano, L., Guy, J., Misceo, D., Stones, R., Wei, W., Hearn, T., Ventura, M., Archidiacono, N., Rocchi, M. and Jackson, M.S. (2002) Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Research, 12 (1), 67-80.

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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More information

Published date: January 2002
Keywords: linkage (genetics), genetic, pongo pygmaeus, letter, pseudogenes, comparative study, non-u.s.gov't, exons, pair 10, x chromosome, expressed sequence tags, evolution, human, genes, gene duplication, genetics, family, molecular sequence data, macaca mulatta, inversion, centromere, humans, animals, physical chromosome mapping, pan troglodytes, chromosome, research support, chromosomes, models, molecular

Identifiers

Local EPrints ID: 59622
URI: http://eprints.soton.ac.uk/id/eprint/59622
ISSN: 1088-9051
PURE UUID: 49fcbbbe-109b-4d64-bf0d-ecaea7e21fc2

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Date deposited: 04 Sep 2008
Last modified: 13 Mar 2019 20:30

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Contributors

Author: M. Crosier
Author: L. Viggiano
Author: J. Guy
Author: D. Misceo
Author: R. Stones
Author: W. Wei
Author: T. Hearn
Author: M. Ventura
Author: N. Archidiacono
Author: M. Rocchi
Author: M.S. Jackson

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