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Related Concept Videos

Nondisjunction01:29

Nondisjunction

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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Nondisjunction01:21

Nondisjunction

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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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Meiosis I01:49

Meiosis I

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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
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Karyotyping01:17

Karyotyping

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Overview
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Meiosis vs. Mitosis02:57

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Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
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Induced Pluripotent Stem Cells01:06

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Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
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Stem and progenitor cell dysfunction in human trisomies.

Binbin Liu1, Sarah Filippi2, Anindita Roy3

  • 1Department of Paediatrics and Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.

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|December 19, 2014
PubMed
Summary
This summary is machine-generated.

Down syndrome (Trisomy 21) disrupts stem cell growth differently across tissues, impacting development and aging. This affects fetal development and may contribute to premature aging and diseases like Alzheimer's later in life.

Keywords:
Down syndromehematopoietic stem cellsleukemianeural progenitorstrisomy 21

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Area of Science:

  • Genetics
  • Developmental Biology
  • Stem Cell Biology

Background:

  • Trisomy 21 (Down syndrome) is the most common human aneuploidy.
  • It significantly affects stem and progenitor cell growth.
  • These effects are complex, context-dependent, and stage-specific, extending beyond simple gene dosage.

Purpose of the Study:

  • To elucidate the multifaceted impact of Trisomy 21 on stem and progenitor cell proliferation.
  • To understand how these perturbations contribute to Down syndrome phenotypes and age-related conditions.

Main Methods:

  • Analysis of stem and progenitor cell behavior in various tissues.
  • Correlation of cell growth patterns with developmental stages and disease susceptibility.

Main Results:

  • Increased proliferation of fetal hematopoietic and testicular stem/progenitors, linked to higher risks of leukemia and testicular cancer.
  • Markedly impaired proliferation of stem/progenitors in other fetal tissues, contributing to Down syndrome's characteristic features (craniofacial, neurocognitive, cardiac).
  • Evidence suggests premature aging of stem/progenitor cells post-birth, potentially driving multi-system deterioration and Alzheimer's disease risk.

Conclusions:

  • Trisomy 21 profoundly alters stem cell dynamics in a tissue-specific and developmental manner.
  • These alterations explain key developmental issues and increased cancer risks in Down syndrome.
  • Stem cell aging in Trisomy 21 may underlie progressive decline and neurodegenerative diseases like Alzheimer's.