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Mini-heterochromatin domains constrain the <i>cis</i> -regulatory impact of SVA transposons in human brain development and disease

2023-10-21

Abstract excerpt

SVA retrotransposons remain active in humans and contribute to individual genetic variation. Polymorphic SVA alleles harbor gene-regulatory potential and can cause genetic disease. However, how SVA insertions are controlled and functionally impact human disease is unknown. Here, we dissect the epigenetic regulation and influence of SVAs in cellular models of X-linked dystonia-parkinsonism (XDP), a neurodegenerativ...

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Literature Corpus work
7571a3a1-0a03-5a0f-9714-43f04c016eb0
DOI
10.1101/2023.10.20.563233
Open publication

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Mini-heterochromatin domains constrain the <i>cis</i> -regulatory impact of SVA transposons in human brain development and diseaseDOI 10.1101/2023.10.20.563233
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