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dc.contributor.authorMartinez, Jerahme R.
Dhawan, Akash
Farach-Carson, Mary C.
dc.date.accessioned 2019-01-11T15:35:25Z
dc.date.available 2019-01-11T15:35:25Z
dc.date.issued 2018
dc.identifier.citation Martinez, Jerahme R., Dhawan, Akash and Farach-Carson, Mary C.. "Modular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functions." Genes, 9, no. 11 (2018) MDPI: https://doi.org/10.3390/genes9110556.
dc.identifier.urihttps://hdl.handle.net/1911/105076
dc.description.abstract Heparan 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.
dc.language.iso eng
dc.publisher MDPI
dc.rights This 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).
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.title Modular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functions
dc.type Journal article
dc.citation.journalTitle Genes
dc.subject.keywordSchwartz-Jampel syndrome
dyssegmental dysplasia Silverman-Handmaker type
perlecan
dc.citation.volumeNumber 9
dc.citation.issueNumber 11
dc.identifier.digital genes-09-00556
dc.type.dcmi Text
dc.identifier.doihttps://doi.org/10.3390/genes9110556
dc.identifier.pmcid PMC6266596
dc.identifier.pmid 30453502
dc.type.publication publisher version
dc.citation.articleNumber 556


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This 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).
Except where otherwise noted, this item's license is described as This 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).