Susceptible chiasmate configurations of chromosome 21 predispose to non- disjunction in both maternal meiosis I and meiosis II

Neil E. Lamb; Sallie B. Freeman; Amanda Savage-Austin; Dorothy Pettay; Lisa Taft; Jane Hersey; Yuanchao Gu; Joe Shen; Denise Saker; Kristen M. May; Dimitris Avramopoulos; Michael B. Petersen; Anni Hallberg; Margareta Mikkelsen; Terry J. Hassold; Stephanie L. Sherman

doi:10.1038/ng1296-400

Susceptible chiasmate configurations of chromosome 21 predispose to non- disjunction in both maternal meiosis I and meiosis II

Neil E. Lamb, Sallie B. Freeman, Amanda Savage-Austin, Dorothy Pettay, Lisa Taft, Jane Hersey, Yuanchao Gu, Joe Shen, Denise Saker, Kristen M. May, Dimitris Avramopoulos, Michael B. Petersen, Anni Hallberg, Margareta Mikkelsen, Terry J. Hassold, Stephanie L. Sherman

Research output: Contribution to journal › Article › peer-review

300 Scopus citations

Abstract

The cause of non-disjunction of chromosome 21 remains largely unknown. Advanced maternal age is associated with both maternal meiosis I (MI) and meiosis II (MII) non-disjunction events. While reduced genetic recombination has been demonstrated in maternal MI errors, the basis for MII errors remains uncertain. We studied 133 trisomy 21 cases with maternal MII errors to test the hypothesis that segregation at MII may also be influenced by genetic recombination. Our data support a highly significant association: MII non- disjunction involves increased recombination that is largely restricted to proximal 21 q. Thus, while absence of a proximal recombination appears to predispose to non-disjunction in MI, the presence of a proximal exchange predisposes to non-disjunction in MII. These findings profoundly affect our understanding of trisomy 21 as they suggest that virtually all maternal non- disjunction results from events occurring in meioisis I.

Original language	English (US)
Pages (from-to)	400-405
Number of pages	6
Journal	Nature genetics
Volume	14
Issue number	4
DOIs	https://doi.org/10.1038/ng1296-400
State	Published - Dec 1996
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Lamb, N. E., Freeman, S. B., Savage-Austin, A., Pettay, D., Taft, L., Hersey, J., Gu, Y., Shen, J., Saker, D., May, K. M., Avramopoulos, D., Petersen, M. B., Hallberg, A., Mikkelsen, M., Hassold, T. J., & Sherman, S. L. (1996). Susceptible chiasmate configurations of chromosome 21 predispose to non- disjunction in both maternal meiosis I and meiosis II. Nature genetics, 14(4), 400-405. https://doi.org/10.1038/ng1296-400

Lamb, NE, Freeman, SB, Savage-Austin, A, Pettay, D, Taft, L, Hersey, J, Gu, Y, Shen, J, Saker, D, May, KM, Avramopoulos, D, Petersen, MB, Hallberg, A, Mikkelsen, M, Hassold, TJ & Sherman, SL 1996, 'Susceptible chiasmate configurations of chromosome 21 predispose to non- disjunction in both maternal meiosis I and meiosis II', Nature genetics, vol. 14, no. 4, pp. 400-405. https://doi.org/10.1038/ng1296-400

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title = "Susceptible chiasmate configurations of chromosome 21 predispose to non- disjunction in both maternal meiosis I and meiosis II",

abstract = "The cause of non-disjunction of chromosome 21 remains largely unknown. Advanced maternal age is associated with both maternal meiosis I (MI) and meiosis II (MII) non-disjunction events. While reduced genetic recombination has been demonstrated in maternal MI errors, the basis for MII errors remains uncertain. We studied 133 trisomy 21 cases with maternal MII errors to test the hypothesis that segregation at MII may also be influenced by genetic recombination. Our data support a highly significant association: MII non- disjunction involves increased recombination that is largely restricted to proximal 21 q. Thus, while absence of a proximal recombination appears to predispose to non-disjunction in MI, the presence of a proximal exchange predisposes to non-disjunction in MII. These findings profoundly affect our understanding of trisomy 21 as they suggest that virtually all maternal non- disjunction results from events occurring in meioisis I.",

author = "Lamb, {Neil E.} and Freeman, {Sallie B.} and Amanda Savage-Austin and Dorothy Pettay and Lisa Taft and Jane Hersey and Yuanchao Gu and Joe Shen and Denise Saker and May, {Kristen M.} and Dimitris Avramopoulos and Petersen, {Michael B.} and Anni Hallberg and Margareta Mikkelsen and Hassold, {Terry J.} and Sherman, {Stephanie L.}",

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AU - Pettay, Dorothy

AU - Taft, Lisa

AU - Hersey, Jane

AU - Gu, Yuanchao

AU - Shen, Joe

AU - Saker, Denise

AU - May, Kristen M.

AU - Avramopoulos, Dimitris

AU - Petersen, Michael B.

AU - Hallberg, Anni

AU - Mikkelsen, Margareta

AU - Hassold, Terry J.

AU - Sherman, Stephanie L.

PY - 1996/12

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N2 - The cause of non-disjunction of chromosome 21 remains largely unknown. Advanced maternal age is associated with both maternal meiosis I (MI) and meiosis II (MII) non-disjunction events. While reduced genetic recombination has been demonstrated in maternal MI errors, the basis for MII errors remains uncertain. We studied 133 trisomy 21 cases with maternal MII errors to test the hypothesis that segregation at MII may also be influenced by genetic recombination. Our data support a highly significant association: MII non- disjunction involves increased recombination that is largely restricted to proximal 21 q. Thus, while absence of a proximal recombination appears to predispose to non-disjunction in MI, the presence of a proximal exchange predisposes to non-disjunction in MII. These findings profoundly affect our understanding of trisomy 21 as they suggest that virtually all maternal non- disjunction results from events occurring in meioisis I.

AB - The cause of non-disjunction of chromosome 21 remains largely unknown. Advanced maternal age is associated with both maternal meiosis I (MI) and meiosis II (MII) non-disjunction events. While reduced genetic recombination has been demonstrated in maternal MI errors, the basis for MII errors remains uncertain. We studied 133 trisomy 21 cases with maternal MII errors to test the hypothesis that segregation at MII may also be influenced by genetic recombination. Our data support a highly significant association: MII non- disjunction involves increased recombination that is largely restricted to proximal 21 q. Thus, while absence of a proximal recombination appears to predispose to non-disjunction in MI, the presence of a proximal exchange predisposes to non-disjunction in MII. These findings profoundly affect our understanding of trisomy 21 as they suggest that virtually all maternal non- disjunction results from events occurring in meioisis I.

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Susceptible chiasmate configurations of chromosome 21 predispose to non- disjunction in both maternal meiosis I and meiosis II

Abstract

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