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Article

Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.

Human molecular genetics - 15 Oct 2018

Toubiana Shir, Velasco Guillaume, Chityat Adi, Kaindl Angela M, Hershtig Noam, Tzur-Gilat Aya, Francastel Claire, Selig Sara

Abstract excerpt

Human telomeres and adjacent subtelomeres are packaged as heterochromatin. Subtelomeric DNA undergoes methylation during development by DNA methyltransferase 3B (DNMT3B), including the CpG-rich promoters of the long non-coding RNA (TERRA) embedded in these regions. The factors that direct DNMT3B methylation to human subtelomeres and maintain this methylation throughout lifetime are yet unknown. The importance of...

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Source

Identifiers

PMID: 30010917
DOI: 10.1093/hmg/ddy265

Genes

CDCA7
HELLS
ZBTB24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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