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Related Concept Videos

Genome Copying Errors02:46

Genome Copying Errors

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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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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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.
Nondisjunction01:21

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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 sister...
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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.

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Inverted duplications deletions: underdiagnosed rearrangements??

O Zuffardi1, M Bonaglia, R Ciccone

  • 1Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy. zuffardi@unipv.it

Clinical Genetics
|June 11, 2009
PubMed
Summary
This summary is machine-generated.

Molecular studies reveal that many terminal duplications are actually inverted duplications with deletions (inv dup del). These rearrangements, often missed by conventional methods, have significant genotype-phenotype implications.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Cytogenetics

Background:

  • Chromosome rearrangements previously identified as terminal duplications are now understood to be inverted duplications with contiguous terminal deletions (inv dup del).
  • These inv dup del rearrangements arise from dicentric chromosomes, which undergo breakage to form the inv dup del and a deleted chromosome.

Purpose of the Study:

  • To elucidate the mechanisms of inv dup del formation, including recurrent and non-recurrent types.
  • To explore the various pathways of dicentric chromosome healing and their resulting chromosomal structures.
  • To highlight the underestimation of inv dup del frequency due to limitations in conventional detection methods.

Main Methods:

  • Analysis of chromosome rearrangements using molecular techniques.
  • Investigation of dicentric chromosome formation during meiosis (non-allelic homologous recombination) and in somatic cells (non-homologous end joining, intrastrand annealing).
  • Consideration of telomere-dependent and independent healing mechanisms, including telomere capture and circularization.

Main Results:

  • Inv dup del rearrangements are formed via symmetric dicentric chromosomes undergoing asymmetric breakage.
  • Recurrent inv dup del involve meiotic non-allelic homologous recombination, while non-recurrent types result from non-homologous end joining or intrastrand annealing.
  • Dicentric chromosome healing can lead to translocated or ring inv dup del chromosomes, and the deleted region may be longer than the duplicated region, often missed by FISH.

Conclusions:

  • Conventional cytogenetic analysis likely underestimates the true frequency of inv dup del rearrangements.
  • The widespread adoption of array comparative genomic hybridization (array-CGH) is expected to provide more accurate estimates of inv dup del frequency.
  • The simultaneous presence of deletion and duplication in inv dup del rearrangements has critical implications for genotype-phenotype correlations.