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A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome

  1. Author:
    Mun, Seyoung
    Kim, Songmi
    Lee, Wooseok
    Kang, Keunsoo
    Meyer,Thomas
    Han, Bok-Ghee
    Han, Kyudong
    Kim, Heui-Soo
  2. Author Address

    Dankook Univ, Dept Nanobiomed Sci, Cheonan 31116, South Korea.DKU Theragen Inst NGS Anal DTiNa, Cheonan 31116, South Korea.Dankook Univ, Ctr Biomed Engn Core Facil, Cheonan 31116, South Korea.Dankook Univ, Dept Microbiol, Cheonan 31116, South Korea.NCI, CCR Collaborat Bioinformat Resource, NIH, Bethesda, MD 20892 USA.Frederick Natl Lab Canc Res, Adv Biomed Computat Sci, Frederick, MD USA.Korea Ctr Dis Control & Prevent, Natl Inst Hlth, Ctr Genome Sci, Osong 28160, South Korea.Pusan Natl Univ, Dept Biol Sci, Busan 46283, South Korea.
    1. Year: 2021
    2. Date: Apr
  1. Journal: Experimental and Molecular Medicine
  2. SpringerNature
    1. 53
    2. 4
    3. Pages: 615-630
  3. Type of Article: Article
  4. ISSN: 1226-3613
  1. Abstract:

    Genomics: Following the footprints of 'jumping genes' A novel strategy for genome analysis offers insights into the distribution and impact on genome variation of transposable elements, DNA sequences that can replicate and relocate themselves at different chromosomal regions. These sequences, also known as 'jumping genes', comprise up to 50% of the genome, but it has proven challenging to map them with existing techniques. Seyoung Mun of Dankook University, Cheonan, South Korea, and coworkers have developed a sequencing and computational analysis strategy that allowed them to accurately map transposable elements across the genome of a Korean individual. These data revealed hundreds of insertion and deletion events relative to an existing reference map of the genome, showing significant alterations in the chromosomal structure. The authors speculate that such widespread transposition events could potentially contribute to individual differences in gene expression and risk of disease.

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External Sources

  1. DOI: 10.1038/s12276-021-00586-y
  2. PMID: 33833373
  3. PMCID: PMC8102501
  4. WOS: 000647772600012

Library Notes

  1. Fiscal Year: FY2020-2021
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