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Related Concept Videos

Translesion DNA Polymerases02:10

Translesion DNA Polymerases

Translesion (TLS) polymerases rescue stalled DNA polymerases at sites of damaged bases by replacing the replicative polymerase and installing a nucleotide across the damaged site. Doing so, TLS allows additional time for the cell to repair the damage before resuming regular DNA replication.
TLS polymerases are found in all three domains of life - archaea, bacteria, and eukaryotes. Of the different classes of TLS polymerases, members of the Y family are fitted with specialized structures that...
Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
Homologous Recombination02:31

Homologous Recombination

The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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...
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...

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Related Experiment Video

Updated: Jul 13, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Polymorphisms in the human DNA ligase I gene (LIG1) including a complex GT repeat

K J Livak1, W A Little, S L Stack

  • 1Research and Development Division, The Du Pont Merck Pharmaceutical, Wilmington, DE 19880-0328, USA. livakkn@perkin-elmer.com

Mutation Research
|January 27, 1999
PubMed
Summary

Human DNA ligase I sequencing revealed new sequence variations. These include a polymorphic single base change and a three-base deletion due to alternative splicing, impacting gene transcripts.

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Area of Science:

  • Molecular Biology
  • Genetics

Background:

  • Human DNA ligase I is crucial for DNA replication and repair.
  • Previous sequencing of human DNA ligase I cDNA revealed specific sequences.

Purpose of the Study:

  • To investigate unreported differences in human DNA ligase I cDNA sequence.
  • To characterize sequence variations and their functional implications.

Main Methods:

  • DNA sequencing of cDNA clones from HeLa cells.
  • Polymerase Chain Reaction (PCR) amplification of specific gene segments.
  • Sequence analysis of amplified DNA and cDNA.
  • Primer extension reactions.

Main Results:

  • Two unreported differences were found: a single base change and a three-base deletion in exon 6.
  • Intron 6 size was corrected to approximately 2.6 kb.
  • The single-base change in exon 6 is a common polymorphism (allele frequency 0.5).
  • The three-base deletion results from alternative splicing, present in one-third of transcripts in HeLa cells and thymus.
  • A complex, polymorphic GT repeat was identified in intron 6.

Conclusions:

  • The study identified novel sequence variations in human DNA ligase I.
  • These variations, including a common polymorphism and alternative splicing, contribute to transcript diversity.
  • The identified intron 6 repeat is polymorphic and requires specialized methods for detection.