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Related Concept Videos

Meiosis I01:49

Meiosis I

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 a...
Nondisjunction01:29

Nondisjunction

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.
Nondisjunction01:21

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 sister...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

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.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Role Of Notch Signalling In Intestinal Stem Cell Renewal01:12

Role Of Notch Signalling In Intestinal Stem Cell Renewal

Notch signaling was first discovered in Drosophila melanogaster, where it is involved in cell lineage differentiation. Notch signaling regulates the maintenance and differentiation of intestinal stem cells or ISCs by controlling the expression of atonal homolog 1 or Atoh1. Atoh1 directs cells to differentiate into secretory cells.
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...

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In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
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Usp16 contributes to somatic stem-cell defects in Down's syndrome.

Maddalena Adorno1, Shaheen Sikandar, Siddhartha S Mitra

  • 1Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, California 94305, USA.

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Triplication of Usp16 in Down syndrome models impairs cell renewal and causes premature aging. Reducing Usp16 levels largely reverses these defects, suggesting Usp16 as a therapeutic target for Down syndrome pathologies.

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Area of Science:

  • Genetics
  • Cell Biology
  • Developmental Biology

Background:

  • Down syndrome arises from trisomy of chromosome 21, leading to gene dosage imbalance.
  • The impact of this imbalance on adult tissues and cellular functions is not fully understood.

Purpose of the Study:

  • To investigate the role of Usp16 in cellular defects observed in Down syndrome models.
  • To explore Usp16 as a potential therapeutic target for Down syndrome-related conditions.

Main Methods:

  • Utilized Ts65Dn mice, a model for Down syndrome, trisomic for genes homologous to human chromosome 21.
  • Assessed self-renewal of hematopoietic stem cells and expansion of mammary epithelial cells, neural progenitors, and fibroblasts.
  • Analyzed Usp16's effect on Cdkn2a ubiquitination, cellular senescence, and histone H2A ubiquitination.
  • Employed gene downregulation via single allele mutation and short interfering RNAs (siRNAs).
  • Validated findings in human fibroblasts and neural progenitor cells.

Main Results:

  • Triplication of Usp16 in Ts65Dn mice reduced stem cell self-renewal and progenitor/fibroblast expansion.
  • Usp16 overexpression was linked to decreased Cdkn2a ubiquitination and accelerated senescence in fibroblasts.
  • Usp16 removes ubiquitin from histone H2A (H2A K119ub), a mark crucial for somatic tissue maintenance.
  • Downregulating Usp16 rescued these cellular defects in mouse models.
  • Human studies showed Usp16 overexpression inhibits normal fibroblast and progenitor expansion, while downregulation partially rescues Down syndrome fibroblast proliferation defects.

Conclusions:

  • Usp16 plays a significant role in antagonizing self-renewal and senescence pathways in Down syndrome.
  • Targeting Usp16 presents a promising strategy for ameliorating certain pathologies associated with Down syndrome.