Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways
White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling. Sequence analysis of samples from...
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| Veröffentlicht in: | Orphanet journal of rare diseases 2015-06, Vol.10 (1), p.72-72, Article 72 |
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| creator | Cai, Wenping Jiang, Beizhan Feng, Tienan Xue, Jinfeng Yang, Jianhua Chen, Zhenghu Liu, Junjun Wei, Rongbin Zhao, Shouliang Wang, Xiaoping Liu, Shangfeng |
| description | White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling.
Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that resulted in the amino acid change Leu111Pro. The pathological pathway behind the WSN expression profile was investigated by RNA sequencing (RNA-seq).
Construction of a heatmap revealed 24 activated genes and 57 reduced genes in the WSN patients. The ribosome structure was damaged in the WSN patients. Moreover, the translation rate was limited in the WSN patients, whereas ubiquitin-mediated proteolysis was enhanced.
Our results suggest that the abnormal degradation of the KRT13 protein in WSN patients may be associated with keratin 7 (KRT7) and an abnormal ubiquitination process. |
| doi_str_mv | 10.1186/s13023-015-0285-y |
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Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that resulted in the amino acid change Leu111Pro. The pathological pathway behind the WSN expression profile was investigated by RNA sequencing (RNA-seq).
Construction of a heatmap revealed 24 activated genes and 57 reduced genes in the WSN patients. The ribosome structure was damaged in the WSN patients. Moreover, the translation rate was limited in the WSN patients, whereas ubiquitin-mediated proteolysis was enhanced.
Our results suggest that the abnormal degradation of the KRT13 protein in WSN patients may be associated with keratin 7 (KRT7) and an abnormal ubiquitination process.</description><identifier>ISSN: 1750-1172</identifier><identifier>EISSN: 1750-1172</identifier><identifier>DOI: 10.1186/s13023-015-0285-y</identifier><identifier>PMID: 26062705</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Adult ; Analysis ; Cell Line ; Genes ; Genetic aspects ; Humans ; Keratin ; Leukokeratosis, Hereditary Mucosal - genetics ; Male ; Mole (Dermatology) ; Mutation ; Pedigree ; Proteolysis ; Risk factors ; RNA ; RNA sequencing ; Sequence Analysis, RNA ; Ubiquitin</subject><ispartof>Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.72-72, Article 72</ispartof><rights>COPYRIGHT 2015 BioMed Central Ltd.</rights><rights>Cai et al. 2015</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c570t-4710f49be0183591981943077a271e4ec6c79af55f21f661590af5f50a0a0c23</citedby><cites>FETCH-LOGICAL-c570t-4710f49be0183591981943077a271e4ec6c79af55f21f661590af5f50a0a0c23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474461/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474461/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,27923,27924,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26062705$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cai, Wenping</creatorcontrib><creatorcontrib>Jiang, Beizhan</creatorcontrib><creatorcontrib>Feng, Tienan</creatorcontrib><creatorcontrib>Xue, Jinfeng</creatorcontrib><creatorcontrib>Yang, Jianhua</creatorcontrib><creatorcontrib>Chen, Zhenghu</creatorcontrib><creatorcontrib>Liu, Junjun</creatorcontrib><creatorcontrib>Wei, Rongbin</creatorcontrib><creatorcontrib>Zhao, Shouliang</creatorcontrib><creatorcontrib>Wang, Xiaoping</creatorcontrib><creatorcontrib>Liu, Shangfeng</creatorcontrib><title>Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways</title><title>Orphanet journal of rare diseases</title><addtitle>Orphanet J Rare Dis</addtitle><description>White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling.
Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that resulted in the amino acid change Leu111Pro. The pathological pathway behind the WSN expression profile was investigated by RNA sequencing (RNA-seq).
Construction of a heatmap revealed 24 activated genes and 57 reduced genes in the WSN patients. The ribosome structure was damaged in the WSN patients. Moreover, the translation rate was limited in the WSN patients, whereas ubiquitin-mediated proteolysis was enhanced.
Our results suggest that the abnormal degradation of the KRT13 protein in WSN patients may be associated with keratin 7 (KRT7) and an abnormal ubiquitination process.</description><subject>Adult</subject><subject>Analysis</subject><subject>Cell Line</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Humans</subject><subject>Keratin</subject><subject>Leukokeratosis, Hereditary Mucosal - genetics</subject><subject>Male</subject><subject>Mole (Dermatology)</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Proteolysis</subject><subject>Risk factors</subject><subject>RNA</subject><subject>RNA sequencing</subject><subject>Sequence Analysis, RNA</subject><subject>Ubiquitin</subject><issn>1750-1172</issn><issn>1750-1172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkk1r3DAQhkVpaT7aH9BLMfTSHpxqbH3Yl8IS0jQQWkhz60FotSOvildyJXsT__tqs2nIQhmENOh5X5jhJeQd0DOARnxOUNOqLinwklYNL-cX5BgkpyWArF4-ex-Rk5R-U8p4TZvX5KgSVFSS8mPy6-J-iJiSC74YYrCud74rgi3u1m7EIg3Bd1h43E6pWM7FzfdFkfDPhN7suIhb1D2uikGP69CHzhndPzR3ek5vyCur-4RvH-9Tcvv14vb8W3n94_LqfHFdGi7pWDIJ1LJ2iRSamrfQNtCymkqpKwnI0AgjW205txVYIYC3NHeWU53LVPUp-bK3HablBlcG_Rh1r4boNjrOKminDn-8W6subBVjkjEB2eDjo0EMebQ0qo1LBvteewxTUiBaKlg-bUY_7NEuj62ctyE7mh2uFpwBFwweDM_-Q-Va4caZ4DGvGQ8Fnw4EmRnxfuz0lJK6-nlzyMKeNTGkFNE-TQpU7WKh9rFQORZqFws1Z8375yt6UvzLQf0X0ECyOw</recordid><startdate>20150611</startdate><enddate>20150611</enddate><creator>Cai, Wenping</creator><creator>Jiang, Beizhan</creator><creator>Feng, Tienan</creator><creator>Xue, Jinfeng</creator><creator>Yang, Jianhua</creator><creator>Chen, Zhenghu</creator><creator>Liu, Junjun</creator><creator>Wei, Rongbin</creator><creator>Zhao, Shouliang</creator><creator>Wang, Xiaoping</creator><creator>Liu, Shangfeng</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20150611</creationdate><title>Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways</title><author>Cai, Wenping ; Jiang, Beizhan ; Feng, Tienan ; Xue, Jinfeng ; Yang, Jianhua ; Chen, Zhenghu ; Liu, Junjun ; Wei, Rongbin ; Zhao, Shouliang ; Wang, Xiaoping ; Liu, Shangfeng</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c570t-4710f49be0183591981943077a271e4ec6c79af55f21f661590af5f50a0a0c23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adult</topic><topic>Analysis</topic><topic>Cell Line</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Humans</topic><topic>Keratin</topic><topic>Leukokeratosis, Hereditary Mucosal - genetics</topic><topic>Male</topic><topic>Mole (Dermatology)</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Proteolysis</topic><topic>Risk factors</topic><topic>RNA</topic><topic>RNA sequencing</topic><topic>Sequence Analysis, RNA</topic><topic>Ubiquitin</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cai, Wenping</creatorcontrib><creatorcontrib>Jiang, Beizhan</creatorcontrib><creatorcontrib>Feng, Tienan</creatorcontrib><creatorcontrib>Xue, Jinfeng</creatorcontrib><creatorcontrib>Yang, Jianhua</creatorcontrib><creatorcontrib>Chen, Zhenghu</creatorcontrib><creatorcontrib>Liu, Junjun</creatorcontrib><creatorcontrib>Wei, Rongbin</creatorcontrib><creatorcontrib>Zhao, Shouliang</creatorcontrib><creatorcontrib>Wang, Xiaoping</creatorcontrib><creatorcontrib>Liu, Shangfeng</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Orphanet journal of rare diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cai, Wenping</au><au>Jiang, Beizhan</au><au>Feng, Tienan</au><au>Xue, Jinfeng</au><au>Yang, Jianhua</au><au>Chen, Zhenghu</au><au>Liu, Junjun</au><au>Wei, Rongbin</au><au>Zhao, Shouliang</au><au>Wang, Xiaoping</au><au>Liu, Shangfeng</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways</atitle><jtitle>Orphanet journal of rare diseases</jtitle><addtitle>Orphanet J Rare Dis</addtitle><date>2015-06-11</date><risdate>2015</risdate><volume>10</volume><issue>1</issue><spage>72</spage><epage>72</epage><pages>72-72</pages><artnum>72</artnum><issn>1750-1172</issn><eissn>1750-1172</eissn><abstract>White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling.
Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that resulted in the amino acid change Leu111Pro. The pathological pathway behind the WSN expression profile was investigated by RNA sequencing (RNA-seq).
Construction of a heatmap revealed 24 activated genes and 57 reduced genes in the WSN patients. The ribosome structure was damaged in the WSN patients. Moreover, the translation rate was limited in the WSN patients, whereas ubiquitin-mediated proteolysis was enhanced.
Our results suggest that the abnormal degradation of the KRT13 protein in WSN patients may be associated with keratin 7 (KRT7) and an abnormal ubiquitination process.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>26062705</pmid><doi>10.1186/s13023-015-0285-y</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Analysis Cell Line Genes Genetic aspects Humans Keratin Leukokeratosis, Hereditary Mucosal - genetics Male Mole (Dermatology) Mutation Pedigree Proteolysis Risk factors RNA RNA sequencing Sequence Analysis, RNA Ubiquitin |
| title | Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways |
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