title: Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene.
abstract: Keratins are cytoskeletal proteins encoded by a multigene family. We have identified the first human keratin pseudogene and determined its complete nucleotide sequence. Sequence comparisons indicate that the pseudogene arose from a very recent duplication of the 50-kd keratin (K14) gene. The coding and the intron sequences of the two genes are 95% and 93% identical, respectively. Although the sequence of the regulatory region in the pseudogene is virtually identical to that in the 50-kd functional gene, several deleterious mutations have been identified in the pseudogene. There are three frameshifts in the coding regions, one of which is a perfect 8-bp duplication. A single-base-pair deletion in the first exon and a single-base-pair insertion in the penultimate exon also result in frameshifts. The three remaining deleterious mutations interfere with the mRNA processing signals: two alter the intron/exon boundaries, and the third disrupts the polyadenylation signal. These mutations clearly identify the sequence as a human keratin pseudogene.
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005091:Exons; D005796:Genes; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D011544:Pseudogenes
chemical_list: D007633:Keratins; D004262:DNA Restriction Enzymes