Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition

Nature Genetics
Jau Ren MaoJames Bristow

Abstract

Tenascin-X is a large extracellular matrix protein of unknown function. Tenascin-X deficiency in humans is associated with Ehlers-Danlos syndrome, a generalized connective tissue disorder resulting from altered metabolism of the fibrillar collagens. Because TNXB is the first Ehlers-Danlos syndrome gene that does not encode a fibrillar collagen or collagen-modifying enzyme, we suggested that tenascin-X might regulate collagen synthesis or deposition. To test this hypothesis, we inactivated Tnxb in mice. Tnxb-/- mice showed progressive skin hyperextensibility, similar to individuals with Ehlers-Danlos syndrome. Biomechanical testing confirmed increased deformability and reduced tensile strength of their skin. The skin of Tnxb-/- mice was histologically normal, but its collagen content was significantly reduced. At the ultrastructural level, collagen fibrils of Tnxb-/- mice were of normal size and shape, but the density of fibrils in their skin was reduced, commensurate with the reduction in collagen content. Studies of cultured dermal fibroblasts showed that although synthesis of collagen I by Tnxb-/- and wildtype cells was similar, Tnxb-/- fibroblasts failed to deposit collagen I into cell-associated matrix. This study confirms ...Continue Reading

References

Oct 1, 1992·Genes & Development·Y SagaS Aizawa
Sep 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·J BonadioJ F Bateman
Sep 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·Y MorelW L Miller
Dec 15, 1986·The Biochemical Journal·J F BatemanW G Cole
Aug 1, 1969·The Journal of Investigative Dermatology·P T Cheng
Jun 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·G S BarshP H Byers
Jul 1, 1982·The Journal of Investigative Dermatology·C H Daly
Aug 1, 1995·Developmental Dynamics : an Official Publication of the American Association of Anatomists·G H BurchJ Bristow
Apr 1, 1994·The Journal of Cell Biology·K MatsumotoR Chiquet-Ehrismann
Apr 1, 1996·Matrix Biology : Journal of the International Society for Matrix Biology·C LethiasR Garrone
Sep 1, 1997·Nature Genetics·G H BurchJ Bristow
Sep 30, 1998·Proceedings of the National Academy of Sciences of the United States of America·C BotasS Hawgood
May 9, 2001·The Journal of Clinical Investigation·J R Mao, J Bristow
Oct 20, 2001·The New England Journal of Medicine·J SchalkwijkJ Bristow
Dec 12, 2001·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·K MatsumotoH Ariga

❮ Previous
Next ❯

Citations

Sep 4, 2010·Cancer Metastasis Reviews·David S GutteryRosemary A Walker
Feb 27, 2004·Biochimica Et Biophysica Acta·Jane Sottile
Apr 20, 2004·The International Journal of Biochemistry & Cell Biology·Ruth Chiquet-Ehrismann
Apr 20, 2004·The International Journal of Biochemistry & Cell Biology·Ruth Chiquet-Ehrismann, Richard P Tucker
Sep 17, 2002·Current Opinion in Cell Biology·Paul Bornstein, E Helene Sage
Apr 28, 2007·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Robert NakayamaTadashi Hasegawa
Jun 17, 2010·Molecular & Cellular Proteomics : MCP·Athanasios DidangelosManuel Mayr
Oct 13, 2011·Molecular & Cellular Proteomics : MCP·Richard WilsonJohn F Bateman
Mar 29, 2011·Cold Spring Harbor Perspectives in Biology·Ruth Chiquet-Ehrismann, Richard P Tucker
Feb 1, 2011·Respirology : Official Journal of the Asian Pacific Society of Respirology·Loubna Akhabir, Andrew J Sandford
Jul 11, 2006·Annual Review of Cell and Developmental Biology·A AszódiR Fässler
Jan 10, 2008·Annual Review of Cell and Developmental Biology·R Grant Rowe, Stephen J Weiss
Dec 26, 2002·Annual Review of Immunology·Attila KumánovicsKirsten Fischer Lindahl
Nov 24, 2012·American Journal of Physiology. Cell Physiology·Edie C GoldsmithFrancis G Spinale
Jul 25, 2013·Investigative Ophthalmology & Visual Science·Kate E KellerTed S Acott
Mar 13, 2010·Fibrogenesis & Tissue Repair·Beate EckesThomas Krieg
Jan 4, 2013·The Journal of Clinical Endocrinology and Metabolism·Deborah P MerkeNazli B McDonnell
Nov 7, 2002·Biological & Pharmaceutical Bulletin·Takeharu MinamitaniKen-Ichi Matsumoto
Feb 3, 2007·Biological & Pharmaceutical Bulletin·Takeshi KinoshitaKen-ichi Matsumoto
Nov 5, 2010·Biological & Pharmaceutical Bulletin·Kazumi SatohKen-Ichi Matsumoto
Apr 7, 2011·Biological & Pharmaceutical Bulletin·Kohei Kawakami, Ken-ichi Matsumoto
Dec 10, 2009·PLoS Genetics·Jae Won ChoiRichard J Bram
Jan 16, 2008·Journal of Oral Science·Diego ArcelliFrancesco Carinci
May 5, 2011·World Journal of Biological Chemistry·Yutaka MatsuiToshimitsu Uede
Jan 2, 2014·European Journal of Medical Genetics·Rachel MorissetteNazli B McDonnell
May 14, 2014·The Journal of Cell Biology·Lindsay B AlcarazUlrich Valcourt
Jun 6, 2014·Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association for Ocular Pharmacology and Therapeutics·Ayan ChatterjeeDouglas J Rhee
Oct 13, 2006·Archives of Dermatological Research·David EggingJoost Schalkwijk
Dec 7, 2005·Cell and Tissue Research·D F EggingJ Schalkwijk
Nov 3, 2006·FEBS Letters·Claire LethiasJean-Yves Exposito
Mar 17, 2011·Connective Tissue Research·N C VoermansB G van Engelen
Jul 26, 2012·Connective Tissue Research·Ken-Ichi MatsumotoTeiji Oda
Aug 20, 2011·Connective Tissue Research·Simone M SmithDavid E Birk
Jan 24, 2012·Matrix Biology : Journal of the International Society for Matrix Biology·Deane F Mosher, Josephine C Adams
Jan 26, 2016·Journal of the Mechanical Behavior of Biomedical Materials·A FallahM M Aghdam

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.