The RNA-binding fragile-X mental retardation protein and its role beyond the brain
It is well-established that variations of a CGG repeat expansion in the gene FMR1 , which encodes the fragile-X mental retardation protein (FMRP), cause the neurocognitive disorder, fragile-X syndrome (FXS). However, multiple observations suggest a general and complex regulatory role of FMRP in proc...
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| Veröffentlicht in: | Biophysical reviews 2020-08, Vol.12 (4), p.903-916 |
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| creator | Malecki, Cassandra Hambly, Brett D. Jeremy, Richmond W. Robertson, Elizabeth N. |
| description | It is well-established that variations of a CGG repeat expansion in the gene
FMR1
, which encodes the fragile-X mental retardation protein (FMRP), cause the neurocognitive disorder, fragile-X syndrome (FXS). However, multiple observations suggest a general and complex regulatory role of FMRP in processes outside the brain: (1) FMRP is ubiquitously expressed in the body, suggesting it functions in multiple organ systems; (2) patients with FXS can exhibit a physical phenotype that is consistent with an underlying abnormality in connective tissue; (3) different CGG repeat expansion lengths in
FMR1
result in different clinical outcomes due to different pathogenic mechanisms; (4) the function of FMRP as an RNA-binding protein suggests it has a general regulatory role. This review details the complex nature of FMRP and the different CGG repeat expansion lengths and the evidence supporting the essential role of the protein in a variety of biological and pathological processes. |
| doi_str_mv | 10.1007/s12551-020-00730-4 |
| format | Article |
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FMR1
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FMR1
result in different clinical outcomes due to different pathogenic mechanisms; (4) the function of FMRP as an RNA-binding protein suggests it has a general regulatory role. This review details the complex nature of FMRP and the different CGG repeat expansion lengths and the evidence supporting the essential role of the protein in a variety of biological and pathological processes.</description><identifier>ISSN: 1867-2450</identifier><identifier>EISSN: 1867-2469</identifier><identifier>DOI: 10.1007/s12551-020-00730-4</identifier><identifier>PMID: 32654068</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Biochemistry ; Biological activity ; Biological and Medical Physics ; Biological Techniques ; Biomedical and Life Sciences ; Biophysics ; Brain ; Cell Biology ; Cognition ; Connective tissues ; FMR1 protein ; Intellectual disabilities ; Life Sciences ; Membrane Biology ; Nanotechnology ; Phenotypes ; Proteins ; Review ; Ribonucleic acid ; RNA ; RNA-binding protein</subject><ispartof>Biophysical reviews, 2020-08, Vol.12 (4), p.903-916</ispartof><rights>International Union for Pure and Applied Biophysics (IUPAB) and Springer-Verlag GmbH Germany, part of Springer Nature 2020</rights><rights>International Union for Pure and Applied Biophysics (IUPAB) and Springer-Verlag GmbH Germany, part of Springer Nature 2020.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4264-9d4c59c20aec5b191f1bd036d5dba518ea61468bf898d12aa7ecd0f680b153f73</citedby><cites>FETCH-LOGICAL-c4264-9d4c59c20aec5b191f1bd036d5dba518ea61468bf898d12aa7ecd0f680b153f73</cites><orcidid>0000-0002-2367-9541 ; 0000-0002-5988-562X ; 0000-0001-6464-6335 ; 0000-0003-1281-0505</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429658/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429658/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,41488,42557,51319,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32654068$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Malecki, Cassandra</creatorcontrib><creatorcontrib>Hambly, Brett D.</creatorcontrib><creatorcontrib>Jeremy, Richmond W.</creatorcontrib><creatorcontrib>Robertson, Elizabeth N.</creatorcontrib><title>The RNA-binding fragile-X mental retardation protein and its role beyond the brain</title><title>Biophysical reviews</title><addtitle>Biophys Rev</addtitle><addtitle>Biophys Rev</addtitle><description>It is well-established that variations of a CGG repeat expansion in the gene
FMR1
, which encodes the fragile-X mental retardation protein (FMRP), cause the neurocognitive disorder, fragile-X syndrome (FXS). However, multiple observations suggest a general and complex regulatory role of FMRP in processes outside the brain: (1) FMRP is ubiquitously expressed in the body, suggesting it functions in multiple organ systems; (2) patients with FXS can exhibit a physical phenotype that is consistent with an underlying abnormality in connective tissue; (3) different CGG repeat expansion lengths in
FMR1
result in different clinical outcomes due to different pathogenic mechanisms; (4) the function of FMRP as an RNA-binding protein suggests it has a general regulatory role. This review details the complex nature of FMRP and the different CGG repeat expansion lengths and the evidence supporting the essential role of the protein in a variety of biological and pathological processes.</description><subject>Biochemistry</subject><subject>Biological activity</subject><subject>Biological and Medical Physics</subject><subject>Biological Techniques</subject><subject>Biomedical and Life Sciences</subject><subject>Biophysics</subject><subject>Brain</subject><subject>Cell Biology</subject><subject>Cognition</subject><subject>Connective tissues</subject><subject>FMR1 protein</subject><subject>Intellectual disabilities</subject><subject>Life Sciences</subject><subject>Membrane Biology</subject><subject>Nanotechnology</subject><subject>Phenotypes</subject><subject>Proteins</subject><subject>Review</subject><subject>Ribonucleic acid</subject><subject>RNA</subject><subject>RNA-binding protein</subject><issn>1867-2450</issn><issn>1867-2469</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp9kc9rVDEQx4Motlb_AQ8l4MVLbH6_vItQSq1CqbCs4C0kL_O2KW-TNXlb6H9v2q2r7cHTzDCf-c4MX4TeM_qJUdqdVMaVYoRySlopKJEv0CEzuiNc6v7lPlf0AL2p9YZSLblRr9GB4FpJqs0hWiyvAS-uTomPKcS0wmNxqzgB-YnXkGY34QKzK8HNMSe8KXmGmLBLAce54pInwB7ucqvnJuSLi-ktejW6qcK7x3iEfnw5X559JZffL76dnV6SQXItSR_koPqBUweD8qxnI_OBCh1U8E4xA04zqY0fTW8C4851MAQ6akM9U2LsxBH6vNPdbP0awtDOLW6ymxLXrtzZ7KJ92knx2q7yre0k77UyTeDjo0DJv7ZQZ7uOdYBpcgnytlouuVBMdB1v6Idn6E3eltTea5SQRhjViUbxHTWUXGuBcX8Mo_beMruzzDbL7INlVrah43_f2I_88agBYgfU1korKH93_0f2N71CoaQ</recordid><startdate>20200801</startdate><enddate>20200801</enddate><creator>Malecki, Cassandra</creator><creator>Hambly, Brett D.</creator><creator>Jeremy, Richmond W.</creator><creator>Robertson, Elizabeth N.</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-2367-9541</orcidid><orcidid>https://orcid.org/0000-0002-5988-562X</orcidid><orcidid>https://orcid.org/0000-0001-6464-6335</orcidid><orcidid>https://orcid.org/0000-0003-1281-0505</orcidid></search><sort><creationdate>20200801</creationdate><title>The RNA-binding fragile-X mental retardation protein and its role beyond the brain</title><author>Malecki, Cassandra ; Hambly, Brett D. ; Jeremy, Richmond W. ; Robertson, Elizabeth N.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4264-9d4c59c20aec5b191f1bd036d5dba518ea61468bf898d12aa7ecd0f680b153f73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Biochemistry</topic><topic>Biological activity</topic><topic>Biological and Medical Physics</topic><topic>Biological Techniques</topic><topic>Biomedical and Life Sciences</topic><topic>Biophysics</topic><topic>Brain</topic><topic>Cell Biology</topic><topic>Cognition</topic><topic>Connective tissues</topic><topic>FMR1 protein</topic><topic>Intellectual disabilities</topic><topic>Life Sciences</topic><topic>Membrane Biology</topic><topic>Nanotechnology</topic><topic>Phenotypes</topic><topic>Proteins</topic><topic>Review</topic><topic>Ribonucleic acid</topic><topic>RNA</topic><topic>RNA-binding protein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Malecki, Cassandra</creatorcontrib><creatorcontrib>Hambly, Brett D.</creatorcontrib><creatorcontrib>Jeremy, Richmond W.</creatorcontrib><creatorcontrib>Robertson, Elizabeth N.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Biophysical reviews</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Malecki, Cassandra</au><au>Hambly, Brett D.</au><au>Jeremy, Richmond W.</au><au>Robertson, Elizabeth N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The RNA-binding fragile-X mental retardation protein and its role beyond the brain</atitle><jtitle>Biophysical reviews</jtitle><stitle>Biophys Rev</stitle><addtitle>Biophys Rev</addtitle><date>2020-08-01</date><risdate>2020</risdate><volume>12</volume><issue>4</issue><spage>903</spage><epage>916</epage><pages>903-916</pages><issn>1867-2450</issn><eissn>1867-2469</eissn><abstract>It is well-established that variations of a CGG repeat expansion in the gene
FMR1
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FMR1
result in different clinical outcomes due to different pathogenic mechanisms; (4) the function of FMRP as an RNA-binding protein suggests it has a general regulatory role. This review details the complex nature of FMRP and the different CGG repeat expansion lengths and the evidence supporting the essential role of the protein in a variety of biological and pathological processes.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>32654068</pmid><doi>10.1007/s12551-020-00730-4</doi><tpages>14</tpages><orcidid>https://orcid.org/0000-0002-2367-9541</orcidid><orcidid>https://orcid.org/0000-0002-5988-562X</orcidid><orcidid>https://orcid.org/0000-0001-6464-6335</orcidid><orcidid>https://orcid.org/0000-0003-1281-0505</orcidid><oa>free_for_read</oa></addata></record> |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; SpringerLink Journals - AutoHoldings |
| subjects | Biochemistry Biological activity Biological and Medical Physics Biological Techniques Biomedical and Life Sciences Biophysics Brain Cell Biology Cognition Connective tissues FMR1 protein Intellectual disabilities Life Sciences Membrane Biology Nanotechnology Phenotypes Proteins Review Ribonucleic acid RNA RNA-binding protein |
| title | The RNA-binding fragile-X mental retardation protein and its role beyond the brain |
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