Special Issue "From Keratin Mutation Disorders to Their Structural Biology and Human Pathology Applications 2.0"
Deadline for manuscript submissions: 20 October 2021.
Interests: genodermatoses; skin; clinical molecular chemistry; differentiation; keratins; epidermal proteins
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The disorders of keratinization (DOKs) are genetic defects characterized by a variety of clinical symptoms and histological features, including in many cases thickened stratum corneum and scaling skin. They can be severely debilitating diseases, though rarely lethal, with an incidence between 1 in 100,000 and 1 in 300,000. Many molecular genetic defects of these inherited skin diseases have been characterized in the last decade.
Genetic mutations in keratin genes lead to errors during the complex assembly and differentiation process of the epidermis, leading to keratin-associated skin diseases. This is because the cytoskeletal system of keratin intermediate filaments (KIFs) is fundamental in the cytoplasm of keratinocytes. This system is composed of unbranched filaments ~10 nm in diameter which are chemically stable, confer mechanical resistance to cells and skin, and have a barrier function.
The keratin gene family contains a high number of members, with 54 unique functional genes detected in humans. Keratins proteins are expressed in keratinocytes as heterodimers of two main families, located in two different chromosomal loci: the type I genes on chromosome 17q21.2, and those encoding type II keratins on chromosome 12q13.13. Additional association of the initial heterodimer gives rise to the filaments of ~10 nm. Further modifications, including crosslinking between filaments, generate the functional cytoskeleton of keratinocytes. During the differentiation of the epidermis, keratin dimers are expressed in a stratum- and tissue-specific fashion. The resulting phenotype of mutations in keratin genes is specific for the type, the localization, and the role of the keratin involved. Moreover, the availability of structural data is now revealing the biochemical behavior of the mutations, elucidating the biological role of these proteins in the pathophysiology of the diseases, and in other aspects of keratinocytes’ cellular biology. Research papers, up-to-date review articles, and commentaries are all welcome.
Prof. Dr. Alessandro Terrinoni
Manuscript Submission Information
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- keratin structural domains