Characterization of a 300 Kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain

The study characterized a 300 kbp region of human DNA containing the type II hair keratin gene domain, identifying six functional type II hair keratin genes (hHb1–hHb6) and four pseudogenes. These genes were organized into two subclusters and expressed in the hair follicle, with pseudogene ψhHbD also transcribed despite mutations. The research suggested an evolutionary divergence of type II hair keratin genes from epithelial keratins and provided insights into their genomic organization and expression, contributing to the understanding of hair formation and structure. Additionally, the study highlighted the role of transcription factors in regulating these genes and suggested a higher gene density in this region than previously assumed.