The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates.

doi:10.3390/ijms25126602

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The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates.

International journal of molecular sciences - 15 Jun 2024

Brancato Desiree, Bruno Francesca, Coniglio Elvira, Sturiale Valentina, Saccone Salvatore, Federico Concetta

Abstract excerpt

The most significant genetic influence on eye color pigmentation is attributed to the intronic SNP rs12913832 in the HERC2 gene, which interacts with the promoter region of the contiguous OCA2 gene. This interaction, through the formation of a chromatin loop, modulates the transcriptional activity of OCA2, directly affecting eye color pigmentation. Recent advancements in technology have elucidated the precise...

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PMID: 38928306
DOI: 10.3390/ijms25126602
PMCID: PMC11204186

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