Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.
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.
Articles
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Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders
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Identification of a novel signature based on unfolded protein response-related gene for predicting prognosis in bladder cancer
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Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset
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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease
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The X chromosome and sex-specific effects in infectious disease susceptibility
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Ernst Wit and John McClure John Wiley & Sons Ltd, Chichester, UK, 2004
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Intragraft transcriptional profiling of renal transplant patients with tubular dysfunction reveals mechanisms underlying graft injury and recovery
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Human genome meeting 2016
HGNC updates
Previous content
Human Genomics launched with BioMed Central in July 2012, transferring from its previous publisher Henry Stewart Publications. All back content is now available in the archive.
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Aims and scope
Human Genomics is a peer-reviewed, open access journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.
Call for Papers: Artificial Intelligence (AI) and Genomics
Guest Editors: Kirill A. Veselkov, Imperial College, London, UK; Takashi Gojobori, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
We solicit manuscripts for a topical collection on "AI and Genomics" in Human Genomics. As you know, human genomics has become one of the most active areas of cutting-edge life sciences and grown to be one of the largest generators of data… Read more
Call for Papers: Genomics of COVID-19: Molecular Mechanisms Going from Susceptibility to Severity of the Disease
Guest Editors: Giuseppe Novelli, University of Rome Tor Vergata, Italy; Juergen Reichardt, James Cook University, Australia
The current COVID-19 pandemic has highlighted the importance of science and medicine, specifically public health, in our modern societies. Countries have taken different approaches to the pandemic... Read more
Call for Papers: Genetically Manipulated Animal Models for Human Disease
Guest Editors: Ying Chen, Yale University, USA; Won Yeong Kang, The Jackson Laboratory, USA; Hassane Mchaourab, Vanderbilt University, USA
In recent decades, genetically manipulated animal models have been developed and used widely in the biomedical research field... Read more
Call for Papers: Public Health Genomics
Guest Editors: George P Patrinos, University of Patras, Greece; Hongyu Zhao, Yale University, USA
Papers are invited which address current issues in human public health genomics, such as genomic surveillance of disease, genetic risk prediction, individual genome interpretation... Read more
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