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An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse

An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse
An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse
Wallerian degeneration is the degeneration of the distal stump of an injured axon. It normally occurs over a time course of around 24 hr but it is delayed in the slow Wallerian degeneration mutant mouse (C57BL/Wlds) for up to 3 weeks. The gene, which protects from rapid Wallerian degeneration, Wld, previously has been mapped to distal chromosome 4. This paper reports the fine genetic mapping of the Wld locus, the generation of a 1.4-Mb bacterial artificial chromosome and P1 artificial chromosome contig, and the identification of an 85-kb tandem triplication mapping within the candidate region. The mutation is unique to C57BL/Wlds among 36 strains tested and therefore is a strong candidate for the mutation that leads to delayed Wallerian degeneration. There are very few reports of tandem triplications in a vertebrate and no evidence for a mutation mechanism so this unusual mutation was characterized in more detail. Sequence analysis of the boundaries of the repeat unit revealed a minisatellite array at the distal boundary and a matching 8-bp sequence at the proximal boundary. This finding suggests that recombination between short homologous sequences ("illegitimate" or "nonhomologous" recombination) was involved in the rearrangement. In addition, a duplication allele was identified in two Wlds mice, indicating some instability in the repeat copy number and suggesting that the triplication arose from a duplication by unequal crossing over.
0027-8424
9985-9990
Coleman, M.P.
83b02e3e-fc40-4bdc-8a34-a1789aff81a1
Conforti, L.
cf17a522-427f-4a79-84e6-23180f84467f
Buckmaster, E.A.
e416d561-6c15-49e8-a574-7ab15d02385b
Tarlton, A.
b7c9d246-7c87-4c2f-9271-59b1802a7628
Ewing, R.M.
022c5b04-da20-4e55-8088-44d0dc9935ae
Brown, M.C.
99fdb177-f005-456a-ada0-1ccb331a5125
Lyon, M.F.
69b6c815-ed06-4800-9f72-e8f1bc6cfd24
Perry, V.H.
8f29d36a-8e1f-4082-8700-09483bbaeae4
Coleman, M.P.
83b02e3e-fc40-4bdc-8a34-a1789aff81a1
Conforti, L.
cf17a522-427f-4a79-84e6-23180f84467f
Buckmaster, E.A.
e416d561-6c15-49e8-a574-7ab15d02385b
Tarlton, A.
b7c9d246-7c87-4c2f-9271-59b1802a7628
Ewing, R.M.
022c5b04-da20-4e55-8088-44d0dc9935ae
Brown, M.C.
99fdb177-f005-456a-ada0-1ccb331a5125
Lyon, M.F.
69b6c815-ed06-4800-9f72-e8f1bc6cfd24
Perry, V.H.
8f29d36a-8e1f-4082-8700-09483bbaeae4

Coleman, M.P., Conforti, L., Buckmaster, E.A., Tarlton, A., Ewing, R.M., Brown, M.C., Lyon, M.F. and Perry, V.H. (1998) An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse. Proceedings of the National Academy of Sciences, 95 (17), 9985-9990. (doi:10.1073/pnas.95.17.9985). (PMID:9707587)

Record type: Article

Abstract

Wallerian degeneration is the degeneration of the distal stump of an injured axon. It normally occurs over a time course of around 24 hr but it is delayed in the slow Wallerian degeneration mutant mouse (C57BL/Wlds) for up to 3 weeks. The gene, which protects from rapid Wallerian degeneration, Wld, previously has been mapped to distal chromosome 4. This paper reports the fine genetic mapping of the Wld locus, the generation of a 1.4-Mb bacterial artificial chromosome and P1 artificial chromosome contig, and the identification of an 85-kb tandem triplication mapping within the candidate region. The mutation is unique to C57BL/Wlds among 36 strains tested and therefore is a strong candidate for the mutation that leads to delayed Wallerian degeneration. There are very few reports of tandem triplications in a vertebrate and no evidence for a mutation mechanism so this unusual mutation was characterized in more detail. Sequence analysis of the boundaries of the repeat unit revealed a minisatellite array at the distal boundary and a matching 8-bp sequence at the proximal boundary. This finding suggests that recombination between short homologous sequences ("illegitimate" or "nonhomologous" recombination) was involved in the rearrangement. In addition, a duplication allele was identified in two Wlds mice, indicating some instability in the repeat copy number and suggesting that the triplication arose from a duplication by unequal crossing over.

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More information

Published date: 18 August 1998
Organisations: Molecular and Cellular

Identifiers

Local EPrints ID: 355424
URI: https://eprints.soton.ac.uk/id/eprint/355424
ISSN: 0027-8424
PURE UUID: 63f4270e-7cc4-4557-8696-9c680b25285c
ORCID for R.M. Ewing: ORCID iD orcid.org/0000-0001-6510-4001

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Date deposited: 21 Nov 2013 14:01
Last modified: 06 Jun 2018 12:28

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