Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene.
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.[1]References
- Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene. Savtchenko, E.S., Freedberg, I.M., Choi, I.Y., Blumenberg, M. Mol. Biol. Evol. (1988) [Pubmed]
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