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familial keratoconus with cataract

Monday 14 November 2011

MicroRNAs (miRNAs) bind to complementary sequences within the 3’ untranslated region (UTR) of mRNAs from hundreds of target genes, leading either to mRNA degradation or suppression of translation.

A mutation in the seed region of miR-184 (MIR184) is responsible for familial severe keratoconus combined with early-onset anterior polar cataract by deep sequencing of a linkage region known to contain the mutation.

The mutant form fails to compete with miR-205 (MIR205) for overlapping target sites on the 3’ UTRs of INPPL1 and ITGB4.

Although these target genes and miR-205 are expressed widely, the phenotype is restricted to the cornea and lens because of the very high expression of miR-184 in these tissues.


- Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract. Hughes AE, Bradley DT, Campbell M, Lechner J, Dash DP, Simpson DA, Willoughby CE. Am J Hum Genet. 2011 Oct 11. PMID: 21996275