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.
98 citations,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
235 citations,
July 1999 in “Journal of biological chemistry/The Journal of biological chemistry” Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.
139 citations,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” K6hf is a unique protein found only in a specific layer of hair follicles.
74 citations,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
32 citations,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
19 citations,
July 1994 in “Journal of Dermatological Science” Human hair keratin genes are similar to mouse genes and are specifically expressed in hair follicles.
65 citations,
September 2014 in “BMC genomics” Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
70 citations,
December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
27 citations,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
12 citations,
January 2014 in “Cell structure and function” Different combinations of human hair keratins affect how hair fibers form.
