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Article

Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.

Human molecular genetics - 28 Feb 2024

Sunny Sweetu Susan, Lachova Jitka, Kasparek Petr, Palkova Marcela, Spoutil Frantisek, Prochazka Jan, Sedlacek Radislav, Liskova Petra, Kozmik Zbynek

Abstract excerpt

Pathogenic variants in the highly conserved OVOL2 promoter region cause posterior polymorphous corneal dystrophy (PPCD) 1 by inducing an ectopic expression of the endothelial OVOL2 mRNA. Here we produced an allelic series of Ovol2 promoter mutations in the mouse model including the heterozygous c.-307T>C variant (RefSeq NM_021220.4) causing PPCD1 in humans. Despite the high evolutionary conservation of the Ovol2...

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PMID: 37971355
DOI: 10.1093/hmg/ddad195

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