Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression by Abigail L. Pfaff, Vivien J. Bubb, John P. Quinn, Sulev Koks

“…To investigate the component of PD that may involve complex genetic variants we characterised the hominid specific retrotransposon SINE-VNTR-Alus (SVAs) in the Parkinson’s Progression Markers Initiative cohort utilising whole genome sequencing. …”
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A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis by Abigail L. Pfaff, Vivien J. Bubb, John P. Quinn, Sulev Koks

“…The hominid-specific retrotransposon SINE-VNTR-Alu (SVA) is a composite element that has contributed to the genetic variation between individuals and influenced genomic structure and function. …”
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CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus by Alexander Fröhlich, Alexander Fröhlich, Lauren S. Hughes, Ben Middlehurst, Abigail L. Pfaff, Abigail L. Pfaff, Vivien J. Bubb, Sulev Koks, Sulev Koks, John P. Quinn

“…BackgroundSINE-VNTR-Alu (SVA) retrotransposons are hominid-specific elements which have been shown to play important roles in processes such as chromatin structure remodelling and regulation of gene expression demonstrating that these repetitive elements exert regulatory functions. …”
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