The disruption of uORFs are also frequent in nature, for example a point mutation in the second uORF of the gene encoding the human hairless homolog (HR) causes the elimination of the ATG codon, leading to the absence of the corresponding 34 amino acid peptide, which has a negative regulatory effect on the main HR. In this way, the variant causes an increased translation of HR and Marie Unna hereditary hypotrichosis, an autosomal dominant form of genetic hair loss.31
