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Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders

Keratin genes comprise the largest subset of intermediate filament genes, which arose during early metazoan evolution to provide mechanical support for plasma membranes in contact with other cells and the extracellular matrix. During evolution, these keratin genes rapidly multiplied and diversified in lungfish and amphibian genomes, concomitant with the sea-to-land-animal divergence (440 to 410 million years ago). The human genome has 27 of 28 type I “acidic” keratin genes clustered at chromosome 17q21.2, and all 26 type II “basic” keratin genes clustered at chromosome 12q13.13. These two clusters (“evolutionary blooms”) of type I and type II keratin genes, each located along a chromosomal segment, have been found in all land-animal vertebrate genomes examined, but not fishes. 
To further understand the role of keratins in human disease, Ho et al. (2022) performed an extensive analysis of the evolutionary relationship of paralogous intermediate filaments within humans and representative model organisms; they screened 259 species and subspecies in 20 phyla of animals, from sponge to human. They then performed a phylogenetically-directed, Bayesian comparative genomic assay of the history of type I and type II keratins across the Tree-of-Life. Finally, the authors contextualize the expression and interaction of keratins to provide insight into the impact of keratin on human health. In the current ClinVar database, they found 26 human disease-causing variants within the various domains of keratin proteins.


  1. Authors: A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson, R. Polimanti, J. Gelernter, X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen…

    Content type: Meeting Abstracts

HGNC updates

Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.

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