Duplication of MER115 on chromosome 4 in patients with primary biliary cirrhosis
Background: Primary biliary cirrhosis (PBC) is a complex disease with genetic and environmental influences. The disease is more prevalent in families with PBC and candidate gene case–control studies have linked PBC with DRB1*08 human leucocyte antigen class II alleles. Aims: The goal of this study w...
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| Veröffentlicht in: | Liver international 2009-03, Vol.29 (3), p.375-383 |
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| creator | Xu, Lizhe Guo, Linsheng Shen, Zhiwei Loss, George Gish, Robert Wasilenko, Shawn Mason, Andrew L. |
| description | Background: Primary biliary cirrhosis (PBC) is a complex disease with genetic and environmental influences. The disease is more prevalent in families with PBC and candidate gene case–control studies have linked PBC with DRB1*08 human leucocyte antigen class II alleles.
Aims: The goal of this study was to characterize a MER115 intergenic region on chromosome 4 as a putative genetic variant associated with PBC.
Methods/Results: This region was incidentally identified during investigations to discover candidate microbial agents using representational difference analysis (RDA) with liver samples from patients with PBC and primary sclerosing cholangitis (PSC). blast search analysis of all the RDA products from the PBC liver revealed genomic sequences, whereas Escherichia coli, mycoplasma and hepatitis B virus DNA were found in the PSC liver. We identified one of the PBC RDA products as an ancestral repeat, referred to as MER115. Southern blot analysis with the PBC product uncovered a restriction fragment length polymorphism in PBC patients' liver. Southern blot hybridization signal showed increased signal intensity in PBC vs. control patients' DNA (P |
| doi_str_mv | 10.1111/j.1478-3231.2008.01888.x |
| format | Article |
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Aims: The goal of this study was to characterize a MER115 intergenic region on chromosome 4 as a putative genetic variant associated with PBC.
Methods/Results: This region was incidentally identified during investigations to discover candidate microbial agents using representational difference analysis (RDA) with liver samples from patients with PBC and primary sclerosing cholangitis (PSC). blast search analysis of all the RDA products from the PBC liver revealed genomic sequences, whereas Escherichia coli, mycoplasma and hepatitis B virus DNA were found in the PSC liver. We identified one of the PBC RDA products as an ancestral repeat, referred to as MER115. Southern blot analysis with the PBC product uncovered a restriction fragment length polymorphism in PBC patients' liver. Southern blot hybridization signal showed increased signal intensity in PBC vs. control patients' DNA (P<0.005) and slot blot hybridization studies confirmed a copy number variation of the MER115 in hepatic DNA of PBC vs. control patients (P=0.02).
Conclusions: Further comparative genetic studies will be required to determine the extent of genomic duplication associated with MER115 and provide data on the possible copy number variants of genes close to this intergenic region in patients with PBC.</description><identifier>ISSN: 1478-3223</identifier><identifier>EISSN: 1478-3231</identifier><identifier>EISSN: 1399-1698</identifier><identifier>DOI: 10.1111/j.1478-3231.2008.01888.x</identifier><identifier>PMID: 19018986</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Blotting, Southern ; Chromosomes, Human, Pair 4 - genetics ; DNA Primers - genetics ; DNA Repeat Expansion - genetics ; DNA, Intergenic - genetics ; Escherichia coli ; Hepatitis B virus ; Humans ; Liver Cirrhosis, Biliary - genetics ; Mycoplasma ; Polymorphism, Restriction Fragment Length - genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Statistics, Nonparametric</subject><ispartof>Liver international, 2009-03, Vol.29 (3), p.375-383</ispartof><rights>2009 The Authors. Journal compilation © 2009 Blackwell Publishing Ltd</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4368-7851e861443fb9991197a18b1d6b83c1fa3d8cba35deb2b39b042610524917523</citedby><cites>FETCH-LOGICAL-c4368-7851e861443fb9991197a18b1d6b83c1fa3d8cba35deb2b39b042610524917523</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1478-3231.2008.01888.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1478-3231.2008.01888.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19018986$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xu, Lizhe</creatorcontrib><creatorcontrib>Guo, Linsheng</creatorcontrib><creatorcontrib>Shen, Zhiwei</creatorcontrib><creatorcontrib>Loss, George</creatorcontrib><creatorcontrib>Gish, Robert</creatorcontrib><creatorcontrib>Wasilenko, Shawn</creatorcontrib><creatorcontrib>Mason, Andrew L.</creatorcontrib><title>Duplication of MER115 on chromosome 4 in patients with primary biliary cirrhosis</title><title>Liver international</title><addtitle>Liver Int</addtitle><description>Background: Primary biliary cirrhosis (PBC) is a complex disease with genetic and environmental influences. The disease is more prevalent in families with PBC and candidate gene case–control studies have linked PBC with DRB1*08 human leucocyte antigen class II alleles.
Aims: The goal of this study was to characterize a MER115 intergenic region on chromosome 4 as a putative genetic variant associated with PBC.
Methods/Results: This region was incidentally identified during investigations to discover candidate microbial agents using representational difference analysis (RDA) with liver samples from patients with PBC and primary sclerosing cholangitis (PSC). blast search analysis of all the RDA products from the PBC liver revealed genomic sequences, whereas Escherichia coli, mycoplasma and hepatitis B virus DNA were found in the PSC liver. We identified one of the PBC RDA products as an ancestral repeat, referred to as MER115. Southern blot analysis with the PBC product uncovered a restriction fragment length polymorphism in PBC patients' liver. Southern blot hybridization signal showed increased signal intensity in PBC vs. control patients' DNA (P<0.005) and slot blot hybridization studies confirmed a copy number variation of the MER115 in hepatic DNA of PBC vs. control patients (P=0.02).
Conclusions: Further comparative genetic studies will be required to determine the extent of genomic duplication associated with MER115 and provide data on the possible copy number variants of genes close to this intergenic region in patients with PBC.</description><subject>Blotting, Southern</subject><subject>Chromosomes, Human, Pair 4 - genetics</subject><subject>DNA Primers - genetics</subject><subject>DNA Repeat Expansion - genetics</subject><subject>DNA, Intergenic - genetics</subject><subject>Escherichia coli</subject><subject>Hepatitis B virus</subject><subject>Humans</subject><subject>Liver Cirrhosis, Biliary - genetics</subject><subject>Mycoplasma</subject><subject>Polymorphism, Restriction Fragment Length - genetics</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>Statistics, Nonparametric</subject><issn>1478-3223</issn><issn>1478-3231</issn><issn>1399-1698</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMtOwzAQRS0E4v0LyCt2CZ7YTuwFC1RKCyoPIV47K04d1SWpi52K8vcktCpL8GbG8j1jzUEIA4mhPWfTGFgmIppQiBNCRExACBEvt9D-5mF70yd0Dx2EMCUEpOSwi_ZAtoAU6T56uFzMK1vkjXUz7Ep8238E4Li9FBPvahdcbTDDdobnbcbMmoA_bTPBc2_r3H9hbSvb1cJ6P3HBhiO0U-ZVMMfreoier_pPvWE0uh9c9y5GUcFoKqJMcDAiBcZoqaWUADLLQWgYp1rQAsqcjkWhc8rHRieaSk1YkgLhCZOQ8YQeotPV3Ll3HwsTGlXbUJiqymfGLYJKM0IYB_gzmBBGaEq7iWIVLLwLwZtSrZdUQFSnXU1VZ1R1dlWnXf1oV8sWPVn_sdC1Gf-Ca89t4HwV-LSV-fr3YDW6fum6lo9WvA2NWW743L-3i9KMq9e7gXq7geFw0BsqTr8BgBieDA</recordid><startdate>200903</startdate><enddate>200903</enddate><creator>Xu, Lizhe</creator><creator>Guo, Linsheng</creator><creator>Shen, Zhiwei</creator><creator>Loss, George</creator><creator>Gish, Robert</creator><creator>Wasilenko, Shawn</creator><creator>Mason, Andrew L.</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><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>7QL</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200903</creationdate><title>Duplication of MER115 on chromosome 4 in patients with primary biliary cirrhosis</title><author>Xu, Lizhe ; Guo, Linsheng ; Shen, Zhiwei ; Loss, George ; Gish, Robert ; Wasilenko, Shawn ; Mason, Andrew L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4368-7851e861443fb9991197a18b1d6b83c1fa3d8cba35deb2b39b042610524917523</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Blotting, Southern</topic><topic>Chromosomes, Human, Pair 4 - genetics</topic><topic>DNA Primers - genetics</topic><topic>DNA Repeat Expansion - genetics</topic><topic>DNA, Intergenic - genetics</topic><topic>Escherichia coli</topic><topic>Hepatitis B virus</topic><topic>Humans</topic><topic>Liver Cirrhosis, Biliary - genetics</topic><topic>Mycoplasma</topic><topic>Polymorphism, Restriction Fragment Length - genetics</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>Statistics, Nonparametric</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xu, Lizhe</creatorcontrib><creatorcontrib>Guo, Linsheng</creatorcontrib><creatorcontrib>Shen, Zhiwei</creatorcontrib><creatorcontrib>Loss, George</creatorcontrib><creatorcontrib>Gish, Robert</creatorcontrib><creatorcontrib>Wasilenko, Shawn</creatorcontrib><creatorcontrib>Mason, Andrew L.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Liver international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Xu, Lizhe</au><au>Guo, Linsheng</au><au>Shen, Zhiwei</au><au>Loss, George</au><au>Gish, Robert</au><au>Wasilenko, Shawn</au><au>Mason, Andrew L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Duplication of MER115 on chromosome 4 in patients with primary biliary cirrhosis</atitle><jtitle>Liver international</jtitle><addtitle>Liver Int</addtitle><date>2009-03</date><risdate>2009</risdate><volume>29</volume><issue>3</issue><spage>375</spage><epage>383</epage><pages>375-383</pages><issn>1478-3223</issn><eissn>1478-3231</eissn><eissn>1399-1698</eissn><abstract>Background: Primary biliary cirrhosis (PBC) is a complex disease with genetic and environmental influences. The disease is more prevalent in families with PBC and candidate gene case–control studies have linked PBC with DRB1*08 human leucocyte antigen class II alleles.
Aims: The goal of this study was to characterize a MER115 intergenic region on chromosome 4 as a putative genetic variant associated with PBC.
Methods/Results: This region was incidentally identified during investigations to discover candidate microbial agents using representational difference analysis (RDA) with liver samples from patients with PBC and primary sclerosing cholangitis (PSC). blast search analysis of all the RDA products from the PBC liver revealed genomic sequences, whereas Escherichia coli, mycoplasma and hepatitis B virus DNA were found in the PSC liver. We identified one of the PBC RDA products as an ancestral repeat, referred to as MER115. Southern blot analysis with the PBC product uncovered a restriction fragment length polymorphism in PBC patients' liver. Southern blot hybridization signal showed increased signal intensity in PBC vs. control patients' DNA (P<0.005) and slot blot hybridization studies confirmed a copy number variation of the MER115 in hepatic DNA of PBC vs. control patients (P=0.02).
Conclusions: Further comparative genetic studies will be required to determine the extent of genomic duplication associated with MER115 and provide data on the possible copy number variants of genes close to this intergenic region in patients with PBC.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>19018986</pmid><doi>10.1111/j.1478-3231.2008.01888.x</doi><tpages>9</tpages></addata></record> |
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| subjects | Blotting, Southern Chromosomes, Human, Pair 4 - genetics DNA Primers - genetics DNA Repeat Expansion - genetics DNA, Intergenic - genetics Escherichia coli Hepatitis B virus Humans Liver Cirrhosis, Biliary - genetics Mycoplasma Polymorphism, Restriction Fragment Length - genetics Reverse Transcriptase Polymerase Chain Reaction Statistics, Nonparametric |
| title | Duplication of MER115 on chromosome 4 in patients with primary biliary cirrhosis |
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