Blog
About

146
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      New consensus nomenclature for mammalian keratins

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Keratins are intermediate filament–forming proteins that provide mechanical support and fulfill a variety of additional functions in epithelial cells. In 1982, a nomenclature was devised to name the keratin proteins that were known at that point. The systematic sequencing of the human genome in recent years uncovered the existence of several novel keratin genes and their encoded proteins. Their naming could not be adequately handled in the context of the original system. We propose a new consensus nomenclature for keratin genes and proteins that relies upon and extends the 1982 system and adheres to the guidelines issued by the Human and Mouse Genome Nomenclature Committees. This revised nomenclature accommodates functional genes and pseudogenes, and although designed specifically for the full complement of human keratins, it offers the flexibility needed to incorporate additional keratins from other mammalian species.

          Related collections

          Most cited references 36

          • Record: found
          • Abstract: not found
          • Article: not found

          The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells.

            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Comprehensive analysis of keratin gene clusters in humans and rodents.

            Here, we present the comparative analysis of the two keratin (K) gene clusters in the genomes of man, mouse and rat. Overall, there is a remarkable but not perfect synteny among the clusters of the three mammalian species. The human type I keratin gene cluster consists of 27 genes and 4 pseudogenes, all in the same orientation. It is interrupted by a domain of multiple genes encoding keratin-associated proteins (KAPs). Cytokeratin, hair and inner root sheath keratin genes are grouped together in small subclusters, indicating that evolution occurred by duplication events. At the end of the rodent type I gene cluster, a novel gene related to K14 and K17 was identified, which is converted to a pseudogene in humans. The human type II cluster consists of 27 genes and 5 pseudogenes, most of which are arranged in the same orientation. Of the 26 type II murine keratin genes now known, the expression of two new genes was identified by RT-PCR. Kb20, the first gene in the cluster, was detected in lung tissue. Kb39, a new ortholog of K1, is expressed in certain stratified epithelia. It represents a candidate gene for those hyperkeratotic skin syndromes in which no K1 mutations were identified so far. Most remarkably, the human K3 gene which causes Meesmann's corneal dystrophy when mutated, lacks a counterpart in the mouse genome. While the human genome has 138 pseudogenes related to K8 and K18, the mouse and rat genomes contain only 4 and 6 such pseudogenes. Our results also provide the basis for a unified keratin nomenclature and for future functional studies.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.

              The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia. Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases. Aspects of the clinical evaluations are discussed. All individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently. The relevance of a possible relationship between clinical findings, chromosome abnormalities, and genes present on 11p is discussed. Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance.
                Bookmark

                Author and article information

                Journal
                J Cell Biol
                JCB
                The Journal of Cell Biology
                The Rockefeller University Press
                0021-9525
                1540-8140
                17 July 2006
                : 174
                : 2
                : 169-174
                Affiliations
                [1 ]Section of Normal and Neoplastic Epidermal Differentiation, [2 ]Division of Cell Biology, German Cancer Research Center, 69120 Heidelberg, Germany
                [3 ]Department of Dermatology, School of Medicine, Cardiff University, Cardiff CF14 4XN, England, UK
                [4 ]Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205
                [5 ]Centre for Molecular Medicine, Singapore 13867
                [6 ]Division of Cell Biochemistry, Institute of Physiological Chemistry, University of Bonn, D-53115 Bonn, Germany
                [7 ]Mouse Genomic Nomenclature Committee, Mouse Genomic Informatics, The Jackson Laboratory, Bar Harbor, ME 04609
                [8 ]VA Palo Alto Health System and Stanford University School of Medicine, Department of Medicine, Palo Alto, CA 94304
                [9 ]Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
                [10 ]Human Genome Organization Gene Nomenclature Committee, The Galton Laboratory, Department of Biology, University College London, London WC1E 6BT, England, UK
                Author notes

                Correspondence to Jürgen Schweizer: schweizer@ 123456dkfz.de

                Article
                200603161
                10.1083/jcb.200603161
                2064177
                16831889
                Copyright © 2006, The Rockefeller University Press
                Product
                Categories
                Reviews
                Comment

                Cell biology

                Comments

                Comment on this article