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The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity

The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity
The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity
Human chromosome 2 contains large blocks of segmental duplications (SDs), both within and between proximal 2p and proximal 2q, and these may contribute to the frequency of the common variant inversion inv(2)(p11.2q13). Despite their being cytogenetically homogeneous, we have identified four different breakpoint combinations by fluorescence in situ hybridization mapping of 40 cases of inv(2)(p11.2q13) of European origin. For the vast majority of inversions (35/40), the breakpoints fell within the same spanning BACs, which hybridized to both 2p11.2 and 2q13 on the normal and inverted homologues. Sequence analysis revealed that these BACs contain a significant proportion of intrachromosomal SDs with sequence homology to the reciprocal breakpoint region. In contrast, BACs spanning the rare breakpoint combinations contain fewer SDs and with sequence homology only to the same chromosome arm. Using haplotype analysis, we identified a number of related family subgroups with identical or very closely related haplotypes. However, the majority of cases were not related, demonstrating for the first time that the inv(2)(p11.2q13) is a truly recurrent rearrangement. Therefore, there are three explanations to account for the frequent observation of the inv(2)(p11.2q13): the majority have arisen independently in different ancestors, while a minority either have been transmitted from a common founder or have different breakpoints at the molecular cytogenetic level.
analysis, sequence homology, gene rearrangement, arm, in situ hybridization, fluorescence, bacterial, time, variation (genetics), humans, karyotyping, chromosomes, research, Germany, inversion, human, haplotypes, genetics, sequence analysis, combination, chromosome breakage, research support, chromosome, family, artificial, pair 2, observation
0002-9297
847-856
Fickelscher, I.
22c3d670-ec90-4926-a348-4663facc8222
Liehr, T.
d07890dd-7be8-42cf-ade9-93a9ab4b5b74
Watts, K.
c8cda4d0-62c2-4ce3-b51c-abc430986ad4
Bryant, V.
9839ef00-aeaa-497b-ac7a-f16670a0fced
Barber, J.C.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Heidemann, S.
611cd95a-7ffc-4165-8d48-0c3afa35f6e8
Siebert, R.
4297324b-08e2-4ed7-8f63-43a4b18eae1b
Hertz, J.M.
fe4d3420-d65f-4aab-a65f-1f795ce2ef58
Tumer, Z.
9d85cfd9-6677-49ef-ba83-b7d95866053d
Simon Thomas, N.
2736b8b1-d10e-484a-bda8-8b761344a93e
Fickelscher, I.
22c3d670-ec90-4926-a348-4663facc8222
Liehr, T.
d07890dd-7be8-42cf-ade9-93a9ab4b5b74
Watts, K.
c8cda4d0-62c2-4ce3-b51c-abc430986ad4
Bryant, V.
9839ef00-aeaa-497b-ac7a-f16670a0fced
Barber, J.C.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Heidemann, S.
611cd95a-7ffc-4165-8d48-0c3afa35f6e8
Siebert, R.
4297324b-08e2-4ed7-8f63-43a4b18eae1b
Hertz, J.M.
fe4d3420-d65f-4aab-a65f-1f795ce2ef58
Tumer, Z.
9d85cfd9-6677-49ef-ba83-b7d95866053d
Simon Thomas, N.
2736b8b1-d10e-484a-bda8-8b761344a93e

Fickelscher, I., Liehr, T., Watts, K., Bryant, V., Barber, J.C., Heidemann, S., Siebert, R., Hertz, J.M., Tumer, Z. and Simon Thomas, N. (2007) The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. American Journal of Human Genetics, 81 (4), 847-856. (doi:10.1086/521226).

Record type: Article

Abstract

Human chromosome 2 contains large blocks of segmental duplications (SDs), both within and between proximal 2p and proximal 2q, and these may contribute to the frequency of the common variant inversion inv(2)(p11.2q13). Despite their being cytogenetically homogeneous, we have identified four different breakpoint combinations by fluorescence in situ hybridization mapping of 40 cases of inv(2)(p11.2q13) of European origin. For the vast majority of inversions (35/40), the breakpoints fell within the same spanning BACs, which hybridized to both 2p11.2 and 2q13 on the normal and inverted homologues. Sequence analysis revealed that these BACs contain a significant proportion of intrachromosomal SDs with sequence homology to the reciprocal breakpoint region. In contrast, BACs spanning the rare breakpoint combinations contain fewer SDs and with sequence homology only to the same chromosome arm. Using haplotype analysis, we identified a number of related family subgroups with identical or very closely related haplotypes. However, the majority of cases were not related, demonstrating for the first time that the inv(2)(p11.2q13) is a truly recurrent rearrangement. Therefore, there are three explanations to account for the frequent observation of the inv(2)(p11.2q13): the majority have arisen independently in different ancestors, while a minority either have been transmitted from a common founder or have different breakpoints at the molecular cytogenetic level.

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More information

Published date: 2007
Keywords: analysis, sequence homology, gene rearrangement, arm, in situ hybridization, fluorescence, bacterial, time, variation (genetics), humans, karyotyping, chromosomes, research, Germany, inversion, human, haplotypes, genetics, sequence analysis, combination, chromosome breakage, research support, chromosome, family, artificial, pair 2, observation

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Local EPrints ID: 59720
URI: http://eprints.soton.ac.uk/id/eprint/59720
ISSN: 0002-9297
PURE UUID: e59a4804-d777-4168-9abc-24b0405a11a4

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Date deposited: 03 Sep 2008
Last modified: 15 Mar 2024 11:17

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Contributors

Author: I. Fickelscher
Author: T. Liehr
Author: K. Watts
Author: V. Bryant
Author: J.C. Barber
Author: S. Heidemann
Author: R. Siebert
Author: J.M. Hertz
Author: Z. Tumer
Author: N. Simon Thomas

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