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Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

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Updated: Mar 24, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

A System to Study Aneuploidy In Vivo.

Sarah J Pfau¹, Angelika Amon¹

¹David H. Koch Institute for Integrative Cancer Research, Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139.

Cold Spring Harbor Symposia on Quantitative Biology

|March 4, 2016

Summary

This study introduces a novel in vivo system to assess aneuploid cell fitness, crucial for understanding cancer and developmental disorders like Down syndrome. The findings offer insights into hematopoietic phenotypes and cancer origins.

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A High-Throughput In Situ Method for Estimation of Hepatocyte Nuclear Ploidy in Mice

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Published on: April 19, 2020

Area of Science:

Genetics
Cell Biology
Cancer Research

Background:

Aneuploidy, an abnormal chromosome number, is linked to cancer and developmental disorders like Down syndrome (DS).
Understanding the physiological impact of aneuploidy is essential for disease research.

Purpose of the Study:

To develop and utilize an in vivo system for evaluating the fitness of aneuploid cells.
To investigate the role of aneuploidy in cellular and organismal physiology and its connection to diseases.

Main Methods:

Developed a transplantation model using hematopoietic stem cells (HSCs) from aneuploid mouse models into irradiated recipient mice.
Directly compared the fitness of aneuploid HSCs against euploid HSCs in a competitive in vivo environment.
Adapted the system to study the interplay between aneuploidy and tumorigenesis.

Main Results:

Established a functional in vivo system to directly assess aneuploid cell fitness.
The system allows for comparative analysis of aneuploid versus euploid cell behavior in a physiological context.
Demonstrated the adaptability of the model for exploring cancer development.

Conclusions:

The developed in vivo system provides a powerful tool for studying aneuploidy's effects on cell fitness.
Further research using this model can elucidate the origins of Down syndrome-related hematopoietic phenotypes.
This system will aid in understanding the contribution of various aneuploid cells to blood cancer development.