Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism

World Journal of Biological Chemistry
Barbara Triggs-Raine, M R Natowicz

Abstract

Hyaluronan is a rapidly turned over component of the vertebrate extracellular matrix. Its levels are determined, in part, by the hyaluronan synthases, HAS1, HAS2, and HAS3, and three hyaluronidases, HYAL1, HYAL2 and HYAL3. Hyaluronan binding proteins also regulate hyaluronan levels although their involvement is less well understood. To date, two genetic disorders of hyaluronan metabolism have been reported in humans: HYAL1 deficiency (Mucopolysaccharidosis IX) in four individuals with joint pathology as the predominant phenotypic finding and HAS2 deficiency in a single person having cardiac pathology. However, inherited disorders and induced mutations affecting hyaluronan metabolism have been characterized in other species. Overproduction of hyaluronan by HAS2 results in skin folding and thickening in shar-pei dogs and the naked mole rat, whereas a complete deficiency of HAS2 causes embryonic lethality in mice due to cardiac defects. Deficiencies of murine HAS1 and HAS3 result in a predisposition to seizures. Like humans, mice with HYAL1 deficiency exhibit joint pathology. Mice lacking HYAL2 have variably penetrant developmental defects, including skeletal and cardiac anomalies. Thus, based on mutant animal models, a partial de...Continue Reading

References

Feb 1, 1992·The Journal of Cell Biology·M CultyC B Underhill
Oct 1, 1992·Archives of Biochemistry and Biophysics·C K NgH C Robinson
Jan 1, 1989·Ciba Foundation Symposium·L RodénJ N Thompson
Mar 15, 1986·The Biochemical Journal·T C LaurentB Smedsrød
Nov 15, 1988·The Biochemical Journal·J R FraserN Vakakis
Nov 1, 1988·Acta Physiologica Scandinavica·R K ReedT C Laurent
Dec 1, 1987·Scandinavian Journal of Clinical and Laboratory Investigation·T C LaurentD Ytterberg
Oct 1, 1985·Scandinavian Journal of Clinical and Laboratory Investigation·A Engström-LaurentT C Laurent
Jan 1, 1985·Cell and Tissue Research·J R FraserG B Ryan
Sep 1, 1967·Archives of Biochemistry and Biophysics·M De SaleguiW Pigman
Jan 1, 1983·Cell and Tissue Research·J R FraserT C Laurent
Jan 1, 1984·Clinical and Experimental Pharmacology & Physiology·J R FraserU G Laurent
Mar 1, 1983·Experimental Cell Research·S ErikssonB Smedsrød
Apr 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·M Gmachl, G Kreil
Sep 1, 1993·Differentiation; Research in Biological Diversity·B A FendersonA Aruffo
Dec 28, 1993·FEBS Letters·M GmachlG Kreil
Oct 3, 1996·The New England Journal of Medicine·M R NatowiczA E Rosenberg
Jun 1, 1996·Annals of Medicine·T C LaurentJ R Fraser
Jul 9, 1997·Biochemical and Biophysical Research Communications·G I FrostT B Csóka
Jul 1, 1997·Journal of Internal Medicine·J R FraserU B Laurent
Jul 1, 1997·Journal of Internal Medicine·B P Toole
Jan 27, 1998·The Journal of Biological Chemistry·A P Spicer, J A McDonald
Aug 24, 1999·The Journal of Biological Chemistry·N ItanoK Kimata
Aug 28, 1999·Human Reproduction Update·A SalustriV C Hascall
Mar 30, 2001·The Journal of Biological Chemistry·R PrevoD G Jackson
Dec 4, 2001·Matrix Biology : Journal of the International Society for Matrix Biology·A B CsokaR Stern
Dec 4, 2001·Matrix Biology : Journal of the International Society for Matrix Biology·G LepperdingerG Kreil
Jan 7, 2003·IUBMB Life·Naoki Itano, Koji Kimata
Apr 30, 2003·Seminars in Oncology·Sophia AdamiaLinda M Pilarski
Sep 17, 2003·Glycoconjugate Journal·Andrew P SpicerRodney A Bowling Jr

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Citations

Feb 16, 2017·Circulation. Cardiovascular Genetics·Biswajit ChowdhuryBarbara Triggs-Raine
Sep 10, 2016·Current Eye Research·Sebastian StachStefano Giovanzana
Jun 6, 2018·Frontiers in Cell and Developmental Biology·James B McCarthyEva A Turley
Dec 22, 2016·Frontiers in Cell and Developmental Biology·Li-Jin HsuNan-Shan Chang
Aug 15, 2017·Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.]·Angela AvenosoGiuseppe M Campo
Oct 25, 2017·Frontiers in Oncology·Lena BohaumilitzkyHeike Boehm
Nov 6, 2020·International Journal of Molecular Sciences·Isaac Tamargo-GómezGuillermo Mariño
Dec 1, 2020·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·Tatsuya YamamotoNobuyuki Fujita
Apr 4, 2021·International Journal of Molecular Sciences·Aditya KaulSundeep G Keswani
Apr 14, 2021·Scientific Reports·Delphine Del MarmolBruno Flamion
Jun 18, 2021·Science Translational Medicine·Stefan BissingerCarola H Ries
Aug 30, 2021·Biochemical and Biophysical Research Communications·Yoshiyuki Kuroda, Hideyoshi Higashi

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