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

Nature Genetics
N E LambS L Sherman

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 21q. 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 meiosis I.

References

Jan 1, 1977·Human Heredity·D C RaoS Yee
Jan 1, 1990·Annals of Human Genetics·N E MortonV Andrews
Oct 1, 1990·Human Genetics·T HassoldA Robinson
Jul 1, 1990·Human Genetics·T Sudha, P M Gopinath
Jul 1, 1989·Annals of Human Genetics·N E Morton, V Andrews
Apr 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·E S Lander, P Green
Sep 1, 1987·Genomics·A Chakravarti, S A Slaugenhaupt
Apr 6, 1968·Nature·S A Henderson, R G Edwards
Aug 1, 1984·Genetical Research·N E Morton, C J MacLean
Oct 1, 1981·Molecular and Cellular Biology·R E Malone, R E Esposito
Jan 1, 1995·Environmental and Molecular Mutagenesis·M A Abruzzo, T J Hassold
Sep 1, 1994·Human Molecular Genetics·R S HawleyR Rasooly
Jan 1, 1994·Annual Review of Genetics·W Y Miyazaki, T L Orr-Weaver

❮ Previous
Next ❯

Citations

Jul 15, 1999·International Journal of Cancer. Journal International Du Cancer·H TsudaS Hirohashi
Dec 14, 2011·Human Genetics·Tiffany Renee OliverStephanie L Sherman
Dec 24, 2011·Journal of Assisted Reproduction and Genetics·Jin-Fang WuMing-Li Li
Jun 25, 1998·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·T M KoY P Cheung
Aug 1, 2000·Mutation Research·R H BortsM F Abdullah
Jan 22, 1998·Mutation Research·D E McFadden, J M Friedman
May 24, 2003·Theriogenology·Jaroslaw SosnowskiMarek Switonski
Mar 25, 2000·Theriogenology·M A Handel
May 22, 2002·Lancet·Joe Leigh SimpsonVictoria Jennings
Jan 1, 1999·Maturitas·E R te Velde
Jan 1, 1999·Maturitas·U Eichenlaub-Ritter
Mar 29, 2000·Clinical Genetics·T Hassold, S Sherman
Apr 6, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jessica Ezzell HunterStephanie L Sherman
Dec 1, 1996·Nature Genetics·T Orr-Weaver
Jun 19, 2012·Nature Reviews. Genetics·So I NagaokaPatricia A Hunt
Jan 19, 2010·Proceedings of the National Academy of Sciences of the United States of America·Louise NewnhamEva Hoffmann
Apr 28, 2010·Proceedings of the National Academy of Sciences of the United States of America·Chad EllermeierGerald R Smith
Oct 11, 2012·Proceedings of the National Academy of Sciences of the United States of America·Danny E Miller, R Scott Hawley
Mar 25, 2009·Genetic Testing and Molecular Biomarkers·Ali Irfan GuzelDeniz Tastemir
Aug 25, 2011·Genetic Testing and Molecular Biomarkers·Jadranka VranekovićBojana Brajenović-Milić
Feb 23, 2007·Molecular Biology of the Cell·Marie A JanickeJames R LaFountain
Nov 5, 1999·Human Molecular Genetics·D O Robinson, P A Jacobs
Sep 10, 2013·Human Molecular Genetics·Candace D MiddlebrooksStephanie L Sherman
Oct 20, 2012·Human Reproduction·Fabio CoppedèLucia Migliore
Aug 8, 2012·Molecular Human Reproduction·Somsubhra NathSusanta Roychoudhury
May 31, 2013·Molecular Human Reproduction·C TempladoA Estop
Oct 1, 2011·Biology of Reproduction·Teresa ChiangMichael A Lampson
Nov 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Roberta E ChristiansonClaudine P Torfs
Dec 26, 2006·Molecular and Cellular Biology·Nicolas RobineValérie Borde
Oct 16, 2004·Annual Review of Genomics and Human Genetics·Audrey LynnTerry Hassold
Mar 29, 2008·PLoS Genetics·Tiffany Renee OliverStephanie L Sherman

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.