miR-184

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.

References

 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