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

4 Jun 2024

Abstract excerpt

SVA (SINE (short interspersed nuclear element)-VNTR (variable number of tandem repeats)-Alu) 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...

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PMID: 38834915
DOI: 10.1038/s41594-024-01320-8

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