Modular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functions

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dc.citation.articleNumber556en_US
dc.citation.issueNumber11en_US
dc.citation.journalTitleGenesen_US
dc.citation.volumeNumber9en_US
dc.contributor.authorMartinez, Jerahme R.en_US
dc.contributor.authorDhawan, Akashen_US
dc.contributor.authorFarach-Carson, Mary C.en_US
dc.contributor.orgBioengineeringen_US
dc.date.accessioned2019-01-11T15:35:25Zen_US
dc.date.available2019-01-11T15:35:25Zen_US
dc.date.issued2018en_US
dc.description.abstractHeparan sulfate proteoglycan 2 (HSPG2) is an essential, highly conserved gene whose expression influences many developmental processes including the formation of the heart and brain. The gene is widely expressed throughout the musculoskeletal system including cartilage, bone marrow and skeletal muscle. The HSPG2 gene product, perlecan is a multifunctional proteoglycan that preserves the integrity of extracellular matrices, patrols tissue borders, and controls various signaling pathways affecting cellular phenotype. Given HSPG2's expression pattern and its role in so many fundamental processes, it is not surprising that relatively few gene mutations have been identified in viable organisms. Mutations to the perlecan gene are rare, with effects ranging from a relatively mild condition to a more severe and perinatally lethal form. This review will summarize the important studies characterizing mutations and variants of HSPG2 and discuss how these genomic modifications affect expression, function and phenotype. Additionally, this review will describe the clinical findings of reported HSPG2 mutations and their observed phenotypes. Finally, the evolutionary aspects that link gene integrity to function are discussed, including key findings from both in vivo animal studies and in vitro systems. We also hope to facilitate discussion about perlecan/HSPG2 and its role in normal physiology, to explain how mutation can lead to pathology, and to point out how this information can suggest pathways for future mechanistic studies.en_US
dc.identifier.citationMartinez, Jerahme R., Dhawan, Akash and Farach-Carson, Mary C.. "Modular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functions." <i>Genes,</i> 9, no. 11 (2018) MDPI: https://doi.org/10.3390/genes9110556.en_US
dc.identifier.digitalgenes-09-00556en_US
dc.identifier.doihttps://doi.org/10.3390/genes9110556en_US
dc.identifier.urihttps://hdl.handle.net/1911/105076en_US
dc.language.isoengen_US
dc.publisherMDPIen_US
dc.rightsThis is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_US
dc.subject.keywordSchwartz-Jampel syndromeen_US
dc.subject.keyworddyssegmental dysplasia Silverman-Handmaker typeen_US
dc.subject.keywordperlecanen_US
dc.titleModular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functionsen_US
dc.typeJournal articleen_US
dc.type.dcmiTexten_US
dc.type.publicationpublisher versionen_US
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