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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Genome Copying Errors02:46

Genome Copying Errors

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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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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Meiosis I03:09

Meiosis I

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Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
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Updated: Apr 17, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Functional consequences of copy number variants in miscarriage.

Jiadi Wen1,2, Courtney W Hanna2,3, Sally Martell2

  • 1Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, V6T 2B5 Canada.

Molecular Cytogenetics
|February 13, 2015
PubMed
Summary

Copy number variations (CNVs) in miscarriages can impact pregnancy. Three genes integral to CNVs showed altered expression, affecting pregnancy development and extracellular matrix homeostasis.

Keywords:
Copy number variationGene expressionMiscarriageOFD1TIMP2TRAPPC2

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Area of Science:

  • Reproductive Biology
  • Genetics
  • Developmental Biology

Background:

  • Unique copy number variations (CNVs) are present in miscarriages, suggesting their genes are crucial for early pregnancy maintenance.
  • Previous work identified 19 unique CNVs in ~40% of euploid miscarriages, often familial.
  • Familial CNVs may cause miscarriage via imprinting effects, necessitating investigation into gene expression.

Purpose of the Study:

  • To assess the relevance of 14 genes integral to CNVs in miscarriages by analyzing their expression in chorionic villi.
  • To investigate the allelic expression of TIMP2, a gene involved in placental remodeling and embryo development, for imprinting effects.

Main Methods:

  • Expression analysis of 14 genes integral to CNVs in miscarriage chorionic villi.
  • Investigated allelic expression of TIMP2 in miscarriages compared to controls.
  • Assessed RNA and protein expression alterations in relation to maternal CNVs.

Main Results:

  • Six of 14 genes showed detectable expression in villi.
  • RNA and protein expression of TRAPPC2, OFD1, and TIMP2 were altered in miscarriages due to maternal CNVs.
  • TRAPPC2 and OFD1 expression increased, while TIMP2 expression decreased; TIMP2 allelic expression was unaffected.

Conclusions:

  • Functional studies of CNVs are proposed to determine their impact on integral gene expression in miscarriages.
  • Assessing the function of integral genes in parental reproductive tissues is recommended for familial CNVs impacting pregnancy development.