A new class of human CpG Island promoters with primate-specific repeats.

ABSTRACT: A subset of imprinting control regions (ICRs) in the human and mouse possess CpG islands associated with imperfect tandem repeats (TRs) that were shown to be essential for genomic imprinting through genetic studies. To identify whether this feature is also present in non-imprinted CpG island promoters, we performed extensive dot plot analyses and identified 342 (326 autosomal and 16 X-chromosomal) human CpG island gene promoters associated with imperfect TRs of ≥ 400 bp, unit lengths 50-150 bp. Most occur as clusters at the human chromosome ends, distinct from the clusters of imprinted genes, and enriched in neurodevelopmental/behavioral disorders, with some showing interindividual variation in methylation levels. A subset of TR-CGIs is highly methylated and remains so during reprogramming

SUBMITTER: Mohan KN 

PROVIDER: S-EPMC12307798 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature