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Non-disjunction of chromosome 18

Non-disjunction of chromosome 18
Non-disjunction of chromosome 18

A sample of 100 trisomy 18 conceptuses analysed separately and together with a published sample of 61 conceptuses confirms that an error in maternal meiosis II (MII) is the most frequent cause of non-disjunction for chromosome 18. This is unlike all other human trisomies that have been studied, which show a higher frequency in maternal meiosis I (MI). Maternal MI trisomy 18 shows a low frequency of recombination in proximal p and medial q, but not the reduction in proximal q observed in chromosome 21 MI non-disjunction. Maternal MII non-disjunction does not fit the entanglement model that predicts increased recombination, especially near the centromere. Whereas recent data on MII trisomy 21 show the predicted increase in recombination proximally, maternal MII trisomy 18 has non-significantly reduced recombination. Therefore, chromosome-specific factors must complicate the simple model of susceptible chiasma distributions interacting with age-dependent deterioration of the meiotic mechanism. For chromosome 18, 30% of tetrads are nullichiasmate in maternal MI non-disjunction, but nullichiasmates are not observed in maternal MII non-disjunction. Chiasma distributions from normal chromosome 18 meioses provide no evidence for normal disjunction from nullichiasmate tetrads. We extend this study to examine the remaining autosomes and find no evidence for normal disjunction from nullichiasmate tetrads generally.

0964-6906
661-669
Bugge, Merete
25add05f-b871-4188-9ed3-031da26c399d
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Petersen, Michael B.
3718d4f3-a4dc-460c-86df-0107a1bdc294
Fisher, Julia
ac7bb8d0-6607-4a30-a9c1-338e71ace7a4
Brandt, Garsten
394f08fd-f358-4e1a-8ed0-cff85ae989de
Hertz, Jens Michael
29ea29f2-e1f4-4ac8-acc7-386f46f4eccc
Tranebjœrg, Lisbeth
b682a3d0-65d0-4c51-bee4-25869ce28ef2
De Lozier-Blanchet, Celia
f7fe99ac-0254-4327-9c30-927850731514
Nicolaides, Peter
0507227a-2491-488e-884e-503440e16c71
Brøndum-Nielsen, Karen
7694aadb-af80-4824-8d76-756c53f4d9a0
Morton, Newton
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Mikkelsen, Margareta
c14436cb-456e-4c17-9f74-cd1df0481dc4
Bugge, Merete
25add05f-b871-4188-9ed3-031da26c399d
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Petersen, Michael B.
3718d4f3-a4dc-460c-86df-0107a1bdc294
Fisher, Julia
ac7bb8d0-6607-4a30-a9c1-338e71ace7a4
Brandt, Garsten
394f08fd-f358-4e1a-8ed0-cff85ae989de
Hertz, Jens Michael
29ea29f2-e1f4-4ac8-acc7-386f46f4eccc
Tranebjœrg, Lisbeth
b682a3d0-65d0-4c51-bee4-25869ce28ef2
De Lozier-Blanchet, Celia
f7fe99ac-0254-4327-9c30-927850731514
Nicolaides, Peter
0507227a-2491-488e-884e-503440e16c71
Brøndum-Nielsen, Karen
7694aadb-af80-4824-8d76-756c53f4d9a0
Morton, Newton
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Mikkelsen, Margareta
c14436cb-456e-4c17-9f74-cd1df0481dc4

Bugge, Merete, Collins, Andrew, Petersen, Michael B., Fisher, Julia, Brandt, Garsten, Hertz, Jens Michael, Tranebjœrg, Lisbeth, De Lozier-Blanchet, Celia, Nicolaides, Peter, Brøndum-Nielsen, Karen, Morton, Newton and Mikkelsen, Margareta (1998) Non-disjunction of chromosome 18. Human Molecular Genetics, 7 (4), 661-669. (doi:10.1093/hmg/7.4.661).

Record type: Article

Abstract

A sample of 100 trisomy 18 conceptuses analysed separately and together with a published sample of 61 conceptuses confirms that an error in maternal meiosis II (MII) is the most frequent cause of non-disjunction for chromosome 18. This is unlike all other human trisomies that have been studied, which show a higher frequency in maternal meiosis I (MI). Maternal MI trisomy 18 shows a low frequency of recombination in proximal p and medial q, but not the reduction in proximal q observed in chromosome 21 MI non-disjunction. Maternal MII non-disjunction does not fit the entanglement model that predicts increased recombination, especially near the centromere. Whereas recent data on MII trisomy 21 show the predicted increase in recombination proximally, maternal MII trisomy 18 has non-significantly reduced recombination. Therefore, chromosome-specific factors must complicate the simple model of susceptible chiasma distributions interacting with age-dependent deterioration of the meiotic mechanism. For chromosome 18, 30% of tetrads are nullichiasmate in maternal MI non-disjunction, but nullichiasmates are not observed in maternal MII non-disjunction. Chiasma distributions from normal chromosome 18 meioses provide no evidence for normal disjunction from nullichiasmate tetrads. We extend this study to examine the remaining autosomes and find no evidence for normal disjunction from nullichiasmate tetrads generally.

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Published date: 1 April 1998

Identifiers

Local EPrints ID: 470741
URI: http://eprints.soton.ac.uk/id/eprint/470741
ISSN: 0964-6906
PURE UUID: e3f4564c-8d94-4bd4-937b-9cd4e7cb0083
ORCID for Andrew Collins: ORCID iD orcid.org/0000-0001-7108-0771

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Date deposited: 19 Oct 2022 16:34
Last modified: 17 Mar 2024 02:37

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Contributors

Author: Merete Bugge
Author: Andrew Collins ORCID iD
Author: Michael B. Petersen
Author: Julia Fisher
Author: Garsten Brandt
Author: Jens Michael Hertz
Author: Lisbeth Tranebjœrg
Author: Celia De Lozier-Blanchet
Author: Peter Nicolaides
Author: Karen Brøndum-Nielsen
Author: Newton Morton
Author: Margareta Mikkelsen

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