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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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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.
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DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
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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. 
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Non-LTR Retrotransposons03:18

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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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Templated Sequence Insertion Polymorphisms in the Human Genome.

Masahiro Onozawa1, Peter D Aplan2

  • 1Genetics Branch, National Cancer Institute, National Institutes of HealthBethesda, MD, USA; Department of Hematology, Hokkaido University Graduate School of MedicineSapporo, Japan.

Frontiers in Chemistry
|December 1, 2016
PubMed
Summary
This summary is machine-generated.

Templated Sequence Insertion Polymorphisms (TSIPs) are novel human genome variations. Most individuals carry 25-30 TSIPs, which vary geographically and may influence human diversity and disease.

Keywords:
DNA repairLINE-1 retrotransposonhuman migrationmitochondriapolymorphismtemplated sequence insertion polymorphisms (TSIPs)

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Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Templated Sequence Insertion Polymorphism (TSIP) is a newly identified type of human genome variation.
  • TSIPs involve the insertion of sequences templated from distant genomic regions.

Approach:

  • Classified TSIPs into two types based on insertion junction sequence features.
  • Analyzed insertion mechanisms: Class 1 via LINE-1 ORF2 protein, Class 2 via DNA double-strand break repair.
  • Surveyed TSIPs in a large cohort of human volunteers.

Key Points:

  • Class 1 TSIPs exhibit target-site duplication, cryptic polyadenylation signals, and preference for TTTT/A insertion sites, indicative of LINE-1 ORF2 mediation.
  • Class 2 TSIPs suggest repair of DNA double-strand breaks using distant genomic sequences as templates.
  • Most individuals possess 25-30 TSIPs, with regional geographic clustering observed.

Conclusions:

  • TSIPs represent a significant source of human genetic variation.
  • The distribution of TSIPs suggests potential roles in human diversity and susceptibility to genetic diseases.