To err (meiotically) is human: the genesis of human aneuploidy - PubMed

Review

To err (meiotically) is human: the genesis of human aneuploidy

T Hassold et al. Nat Rev Genet. 2001 Apr.

Abstract

Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome abnormality in humans, occurring in at least 5% of all clinically recognized pregnancies. Most aneuploid conceptuses perish in utero, which makes this the leading genetic cause of pregnancy loss. However, some aneuploid fetuses survive to term and, as a class, aneuploidy is the most common known cause of mental retardation. Despite the devastating clinical consequences of aneuploidy, relatively little is known of how trisomy and monosomy originate in humans. However, recent molecular and cytogenetic approaches are now beginning to shed light on the non-disjunctional processes that lead to aneuploidy.

Similar articles

• Molecular basis of maternal age-related increase in oocyte aneuploidy.

  Kurahashi H, Tsutsumi M, Nishiyama S, Kogo H, Inagaki H, Ohye T. Kurahashi H, et al. Congenit Anom (Kyoto). 2012 Mar;52(1):8-15. doi: 10.1111/j.1741-4520.2011.00350.x. Congenit Anom (Kyoto). 2012. PMID: 22348779 Review.

• Female germ cell aneuploidy and embryo death in mice lacking the meiosis-specific protein SCP3.

  Yuan L, Liu JG, Hoja MR, Wilbertz J, Nordqvist K, Höög C. Yuan L, et al. Science. 2002 May 10;296(5570):1115-8. doi: 10.1126/science.1070594. Science. 2002. PMID: 12004129

• The origin of human aneuploidy: where we have been, where we are going.

  Hassold T, Hall H, Hunt P. Hassold T, et al. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R203-8. doi: 10.1093/hmg/ddm243. Hum Mol Genet. 2007. PMID: 17911163 Review.

• Nondisjunction in trisomy 21: origin and mechanisms.

  Petersen MB, Mikkelsen M. Petersen MB, et al. Cytogenet Cell Genet. 2000;91(1-4):199-203. doi: 10.1159/000056844. Cytogenet Cell Genet. 2000. PMID: 11173856 Review.

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

  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. Lamb NE, et al. Nat Genet. 1996 Dec;14(4):400-5. doi: 10.1038/ng1296-400. Nat Genet. 1996. PMID: 8944019

Cited by

• Meikin is a conserved regulator of meiosis-I-specific kinetochore function.

  Kim J, Ishiguro K, Nambu A, Akiyoshi B, Yokobayashi S, Kagami A, Ishiguro T, Pendas AM, Takeda N, Sakakibara Y, Kitajima TS, Tanno Y, Sakuno T, Watanabe Y. Kim J, et al. Nature. 2015 Jan 22;517(7535):466-71. doi: 10.1038/nature14097. Epub 2014 Dec 24. Nature. 2015. PMID: 25533956

• Aneuploidy: a common and early evidence-based biomarker for carcinogens and reproductive toxicants.

  Mandrioli D, Belpoggi F, Silbergeld EK, Perry MJ. Mandrioli D, et al. Environ Health. 2016 Oct 12;15(1):97. doi: 10.1186/s12940-016-0180-6. Environ Health. 2016. PMID: 27729050 Free PMC article. Review.

• Follicular fluid C3a-peptide promotes oocyte maturation through F-actin aggregation.

  Yang Y, Zhao C, Chen B, Yu X, Zhou Y, Ni D, Zhang X, Zhang J, Ling X, Zhang Z, Huo R. Yang Y, et al. BMC Biol. 2023 Dec 8;21(1):285. doi: 10.1186/s12915-023-01760-6. BMC Biol. 2023. PMID: 38066646 Free PMC article.

• Double trouble in human aneuploidy.

  Brieño-Enríquez MA, Cohen PE. Brieño-Enríquez MA, et al. Nat Genet. 2015 Jul;47(7):696-8. doi: 10.1038/ng.3344. Nat Genet. 2015. PMID: 26111508

• The conserved ATPase PCH-2 controls the number and distribution of crossovers by antagonizing their formation in C. elegans.

  Patel B, Grobler M, Herrera A, Logari E, Ortiz V, Bhalla N. Patel B, et al. bioRxiv [Preprint]. 2024 Dec 19:2024.08.13.607819. doi: 10.1101/2024.08.13.607819. bioRxiv. 2024. PMID: 39185160 Free PMC article. Updated. Preprint.

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group

• Other Literature Sources

  • The Lens - Patent Citations Database