Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus
The Ig H chain C region is a multigene family often involved in genomic rearrangements leading to deleted and duplicated haplotypes, most probably through unequal crossing over between homologous regions within the locus. The frequency of these haplotypes in Italy is around 2.7% each. Using PFGE ana...
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| Veröffentlicht in: | The Journal of immunology (1950) 1994, Vol.152 (1), p.129-135 |
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| creator | BRUSCO, A CARIOTA, U CARBONARA, A. O BOTTARO, A BOCCAZZI, C PLEBANI, A UGAZIO, A. G GALANELLO, R VAN LEEUWEN, A. M DELANGE, G. G DEPELCHIN, S |
| description | The Ig H chain C region is a multigene family often involved in genomic rearrangements leading to deleted and duplicated haplotypes, most probably through unequal crossing over between homologous regions within the locus. The frequency of these haplotypes in Italy is around 2.7% each. Using PFGE analysis in two unrelated Italian families we found an abnormal high m.w. band, inherited in a Mendelian fashion. To assess the extension of the haplotype we performed Southern blot analysis using several specific Ig H chain C probes. In both cases, the haplotype turned out to be triplicated, with three copies of the genes from A1 to E. In one family segregation of a duplication from EP to G4 was also observed. Analysis of polymorphic loci suggests that the two triplications are of independent origin. Serological detection of IgA2 allotypes demonstrated the functional activity of the genes at the 3' end of the triplicated locus, ruling out any major effect of these large genomic rearrangements on Ig class switching. Furthermore, the triplicated haplotype does not seem to give rise to any clinically significant immunological impairment or increase in Ig serum concentrations. |
| doi_str_mv | 10.4049/jimmunol.152.1.129 |
| format | Article |
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O ; BOTTARO, A ; BOCCAZZI, C ; PLEBANI, A ; UGAZIO, A. G ; GALANELLO, R ; VAN LEEUWEN, A. M ; DELANGE, G. G ; DEPELCHIN, S</creator><creatorcontrib>BRUSCO, A ; CARIOTA, U ; CARBONARA, A. O ; BOTTARO, A ; BOCCAZZI, C ; PLEBANI, A ; UGAZIO, A. G ; GALANELLO, R ; VAN LEEUWEN, A. M ; DELANGE, G. G ; DEPELCHIN, S</creatorcontrib><description>The Ig H chain C region is a multigene family often involved in genomic rearrangements leading to deleted and duplicated haplotypes, most probably through unequal crossing over between homologous regions within the locus. The frequency of these haplotypes in Italy is around 2.7% each. Using PFGE analysis in two unrelated Italian families we found an abnormal high m.w. band, inherited in a Mendelian fashion. To assess the extension of the haplotype we performed Southern blot analysis using several specific Ig H chain C probes. In both cases, the haplotype turned out to be triplicated, with three copies of the genes from A1 to E. In one family segregation of a duplication from EP to G4 was also observed. Analysis of polymorphic loci suggests that the two triplications are of independent origin. Serological detection of IgA2 allotypes demonstrated the functional activity of the genes at the 3' end of the triplicated locus, ruling out any major effect of these large genomic rearrangements on Ig class switching. Furthermore, the triplicated haplotype does not seem to give rise to any clinically significant immunological impairment or increase in Ig serum concentrations.</description><identifier>ISSN: 0022-1767</identifier><identifier>EISSN: 1550-6606</identifier><identifier>DOI: 10.4049/jimmunol.152.1.129</identifier><identifier>PMID: 8254186</identifier><identifier>CODEN: JOIMA3</identifier><language>eng</language><publisher>Bethesda, MD: American Association of Immunologists</publisher><subject>Biological and medical sciences ; Fundamental and applied biological sciences. Psychology ; Gene Deletion ; Gene Rearrangement ; Genes, Immunoglobulin ; Genes. Genome ; Genotype ; Haplotypes ; Humans ; Immunoglobulin Class Switching ; Immunoglobulin Constant Regions - genetics ; Immunoglobulin Heavy Chains - genetics ; Molecular and cellular biology ; Molecular genetics ; Multigene Family ; Pedigree</subject><ispartof>The Journal of immunology (1950), 1994, Vol.152 (1), p.129-135</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3179-36f4f629d46effae63a97aadded22d59c21031cb8dfbe75b5b9e7d35134aab533</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,4028,27932,27933,27934</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3918130$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8254186$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>BRUSCO, A</creatorcontrib><creatorcontrib>CARIOTA, U</creatorcontrib><creatorcontrib>CARBONARA, A. O</creatorcontrib><creatorcontrib>BOTTARO, A</creatorcontrib><creatorcontrib>BOCCAZZI, C</creatorcontrib><creatorcontrib>PLEBANI, A</creatorcontrib><creatorcontrib>UGAZIO, A. G</creatorcontrib><creatorcontrib>GALANELLO, R</creatorcontrib><creatorcontrib>VAN LEEUWEN, A. M</creatorcontrib><creatorcontrib>DELANGE, G. G</creatorcontrib><creatorcontrib>DEPELCHIN, S</creatorcontrib><title>Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus</title><title>The Journal of immunology (1950)</title><addtitle>J Immunol</addtitle><description>The Ig H chain C region is a multigene family often involved in genomic rearrangements leading to deleted and duplicated haplotypes, most probably through unequal crossing over between homologous regions within the locus. The frequency of these haplotypes in Italy is around 2.7% each. Using PFGE analysis in two unrelated Italian families we found an abnormal high m.w. band, inherited in a Mendelian fashion. To assess the extension of the haplotype we performed Southern blot analysis using several specific Ig H chain C probes. In both cases, the haplotype turned out to be triplicated, with three copies of the genes from A1 to E. In one family segregation of a duplication from EP to G4 was also observed. Analysis of polymorphic loci suggests that the two triplications are of independent origin. Serological detection of IgA2 allotypes demonstrated the functional activity of the genes at the 3' end of the triplicated locus, ruling out any major effect of these large genomic rearrangements on Ig class switching. Furthermore, the triplicated haplotype does not seem to give rise to any clinically significant immunological impairment or increase in Ig serum concentrations.</description><subject>Biological and medical sciences</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Deletion</subject><subject>Gene Rearrangement</subject><subject>Genes, Immunoglobulin</subject><subject>Genes. Genome</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Immunoglobulin Class Switching</subject><subject>Immunoglobulin Constant Regions - genetics</subject><subject>Immunoglobulin Heavy Chains - genetics</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Multigene Family</subject><subject>Pedigree</subject><issn>0022-1767</issn><issn>1550-6606</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtP3DAUha2qCKbQP1CpkhcVu0z9TrxECFokpC4Ka-vGjxkjJxnsBGn-PUakbLu6uvd85yzuQegbJVtBhP75FIdhGae0pZJt6ZYy_QltqJSkUYqoz2hDCGMNbVV7hr6U8kQIUYSJU3TaMSlopzbI_53zYuclQ8IwOrwmTrto6w7pWGLBU8A7P3o853hI0cIcp7HgOOJ57_HdDu89vByx3UM92SrNMM44-13FcJrsUi7QSYBU_Nd1nqPH25uH69_N_Z9fd9dX943ltNUNV0EExbQTyocAXnHQLYBz3jHmpLaMEk5t37nQ-1b2ste-dVxSLgB6yfk5unzPPeTpefFlNkMs1qcEo5-WYlrFmRBK_xekSjPGO1lB9g7aPJWSfTCHHAfIR0OJeSvB_CvB1BIMNbWEavq-pi_94N2HZf161X-sOhQLKWQYbSwfGNe0o5zwV4cjk-4</recordid><startdate>1994</startdate><enddate>1994</enddate><creator>BRUSCO, A</creator><creator>CARIOTA, U</creator><creator>CARBONARA, A. O</creator><creator>BOTTARO, A</creator><creator>BOCCAZZI, C</creator><creator>PLEBANI, A</creator><creator>UGAZIO, A. G</creator><creator>GALANELLO, R</creator><creator>VAN LEEUWEN, A. M</creator><creator>DELANGE, G. G</creator><creator>DEPELCHIN, S</creator><general>American Association of Immunologists</general><scope>IQODW</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>7T5</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>1994</creationdate><title>Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus</title><author>BRUSCO, A ; CARIOTA, U ; CARBONARA, A. O ; BOTTARO, A ; BOCCAZZI, C ; PLEBANI, A ; UGAZIO, A. G ; GALANELLO, R ; VAN LEEUWEN, A. M ; DELANGE, G. G ; DEPELCHIN, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3179-36f4f629d46effae63a97aadded22d59c21031cb8dfbe75b5b9e7d35134aab533</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Biological and medical sciences</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Deletion</topic><topic>Gene Rearrangement</topic><topic>Genes, Immunoglobulin</topic><topic>Genes. Genome</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Immunoglobulin Class Switching</topic><topic>Immunoglobulin Constant Regions - genetics</topic><topic>Immunoglobulin Heavy Chains - genetics</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Multigene Family</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BRUSCO, A</creatorcontrib><creatorcontrib>CARIOTA, U</creatorcontrib><creatorcontrib>CARBONARA, A. O</creatorcontrib><creatorcontrib>BOTTARO, A</creatorcontrib><creatorcontrib>BOCCAZZI, C</creatorcontrib><creatorcontrib>PLEBANI, A</creatorcontrib><creatorcontrib>UGAZIO, A. G</creatorcontrib><creatorcontrib>GALANELLO, R</creatorcontrib><creatorcontrib>VAN LEEUWEN, A. M</creatorcontrib><creatorcontrib>DELANGE, G. G</creatorcontrib><creatorcontrib>DEPELCHIN, S</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of immunology (1950)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BRUSCO, A</au><au>CARIOTA, U</au><au>CARBONARA, A. O</au><au>BOTTARO, A</au><au>BOCCAZZI, C</au><au>PLEBANI, A</au><au>UGAZIO, A. G</au><au>GALANELLO, R</au><au>VAN LEEUWEN, A. M</au><au>DELANGE, G. G</au><au>DEPELCHIN, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus</atitle><jtitle>The Journal of immunology (1950)</jtitle><addtitle>J Immunol</addtitle><date>1994</date><risdate>1994</risdate><volume>152</volume><issue>1</issue><spage>129</spage><epage>135</epage><pages>129-135</pages><issn>0022-1767</issn><eissn>1550-6606</eissn><coden>JOIMA3</coden><abstract>The Ig H chain C region is a multigene family often involved in genomic rearrangements leading to deleted and duplicated haplotypes, most probably through unequal crossing over between homologous regions within the locus. The frequency of these haplotypes in Italy is around 2.7% each. Using PFGE analysis in two unrelated Italian families we found an abnormal high m.w. band, inherited in a Mendelian fashion. To assess the extension of the haplotype we performed Southern blot analysis using several specific Ig H chain C probes. In both cases, the haplotype turned out to be triplicated, with three copies of the genes from A1 to E. In one family segregation of a duplication from EP to G4 was also observed. Analysis of polymorphic loci suggests that the two triplications are of independent origin. Serological detection of IgA2 allotypes demonstrated the functional activity of the genes at the 3' end of the triplicated locus, ruling out any major effect of these large genomic rearrangements on Ig class switching. Furthermore, the triplicated haplotype does not seem to give rise to any clinically significant immunological impairment or increase in Ig serum concentrations.</abstract><cop>Bethesda, MD</cop><pub>American Association of Immunologists</pub><pmid>8254186</pmid><doi>10.4049/jimmunol.152.1.129</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences Fundamental and applied biological sciences. Psychology Gene Deletion Gene Rearrangement Genes, Immunoglobulin Genes. Genome Genotype Haplotypes Humans Immunoglobulin Class Switching Immunoglobulin Constant Regions - genetics Immunoglobulin Heavy Chains - genetics Molecular and cellular biology Molecular genetics Multigene Family Pedigree |
| title | Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus |
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