Article
The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology - 8 May 2026
Pires Sílvia, França Isaltina, Oliveira Pedro, Jorge Paula, Liehr Thomas, Oliva-Teles Natália
Abstract excerpt
Non-coding DNA, long considered "junk", is now recognized as a central regulator of genome architecture. Highly repetitive satellite DNA sequences shape heterochromatin and are essential for chromosome stability, segregation, and gene regulation. Pericentromeric heterochromatic variants, or chromosomal heteromorphisms (CHs), have emerged as modulators of human fertility, potentially affecting gametogenesis and...
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