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.
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.
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. In addition to the value of greatly enhanced experimental examination and validation, human genomics relies on emerging, powerful computational approaches, such as Big Data analyses and artificial intelligence (AI) including network science, machine learning, deep learning, text mining, knowledge-based database construction, and even quantum computing. The collection would also be a home for articles focusing on practical applications.
We welcome original articles as well as review papers. Please indicate in your cover letter that your article is intended for the topical collection on "AI and Genomics” and select the collection upon submission. Submissions can also retrospectively be assigned to the collection. Please notify the Journal Editorial Office accordingly.
We look forward to receiving high-quality submissions of significance that can make further contributions to the field of human genomics.
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. Science and medicine will play an important role in our way forward in tackling COVID-19. Specifically, genetics and genomics will be central in discovering variations in virus strains and their impact on patients’ outcome, the hosts’ ability to fend off the virus and the severity of disease in patients. Furthermore, the question of long-term immunity to COVID-19 may have a genetic and genomic basis which should be investigated. Some of these human genetics and genomics investigations will undoubtedly be suitable for publication in Human Genomics. We expressly welcome submissions of manuscripts on such subjects.
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. Use of animal models thus serves as an important tool to elucidate mechanisms of human disease, as well as to develop new diagnostic and therapeutic strategies for the treatment of these diseases. In this topical collection, we intend to provide up-to-date information on recent genetic animal models, and new knowledge derived from these studies on the pathophysiology, diagnosis and therapeutic drugs of human disease. We invite investigators to contribute original research and review articles that describe: (i) newly developed animal models, (ii) intervention studies using animal models, and (iii) comparisons between existing models for certain diseases.
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, gene-environment interactions, genetic diversity of vector-borne disease, vaccination and vaccine-based approaches against pathogens data sharing, economic evaluation in genomic medicine, and the role of big data and artificial intelligence on the development of translational tools and services and the overall future of public health.
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