The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?
TLDR The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
The 2005 document detailed the human type II keratin gene cluster on chromosome 12q13.13, which includes 27 functional keratin genes and eight pseudogenes across approximately 830 kb. It discussed the evolution of the human keratin gene catalogue, including the discovery of hair-specific keratins and the expansion of genes encoding K6 proteins. The paper confirmed the functionality of certain keratin genes, such as KRT1b, and identified the expression of others in various tissues. It also corrected the classification of some K6 isoforms, reducing the number of human K6 genes to three. The findings emphasized the need for a new nomenclature system for keratin genes to reflect the discovery of over 50 functional keratin genes and to facilitate the inclusion of new genes from any species. This research is significant for understanding keratin-based genodermatoses and the biology of hair, wool, and other keratin structures.
