Evidence map›Paper›PMID 41199327›Full record

ArticleMobile DNA2025

Structural and transduction patterns of human-specific polymorphic SVA insertions.

Ashley E Kirby, Mark Loftus, Emily C Golba, Human Genome Structural Variation Consortium, Miriam K Konkel

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Article in Mobile DNA, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Ashley E KirbyDepartment of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA.
Mark LoftusDepartment of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA.
Emily C GolbaDepartment of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA.
Human Genome Structural Variation Consortium
Miriam K KonkelDepartment of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA. mkonkel@clemson.edu.

Funding

Identifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, Jan Oliver Korbel · 2019 to 2026
$17.2M
Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ANHOLT, ROBERT R. H, ARNO, GAVIN · 2021 to 2025
$10.8M
Mobile element mutagenesis as a driver of human cancersR01CA261934 · NCI · UNIVERSITY OF MARYLAND BALTIMORE · PI Scott E Devine · 2022 to 2026
$1.7M
National Institute of Health, United States P20GM139769NCI NIH HHS R01 CA261934NHGRI NIH HHS U24 HG007497NIGMS NIH HHS P20 GM139769
6 · The paper itself

Abstract

backgroundSINE variable number tandem repeat Alu elements (SVAs) are a unique group of hominid-specific composite retrotransposons with highly variable internal structure. They represent the youngest TE family in humans and contribute to genetic diversity, evolution, and disease. Recent findings indicate that SVA mobilization rates may exceed previous estimates, and many SVAs exhibit insertion polymorphism. SVAs facilitate transduction (TD) events when transcription initiates upstream of a source element, or when their internal termination signal is bypassed, mobilizing adjacent 5' and/or 3' sequence. To investigate features of non-reference SVA elements currently polymorphic in the human genome, we analyzed a structural variant callset built upon 35 diverse human genomes generated by the Human Genome Structural Variation Consortium.

resultsIn our curated dataset of 543 polymorphic, non-reference SVAs, we identify insertions representing the three youngest subfamilies: D (7%), E (38%), and F (55%). Of the latter, we determine that at least 47% are actually SVA_F

conclusionsOur analyses indicate that SVA_F

Indexed as

Genetic variationHuman specificMobile element insertionPolymorphismRetrotransposonSource elementStructural variationSubfamilySVATransductionTransposable element

Identifiers

PMID41199327
PMCPMC12593883

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.