A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin
We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlappi...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 2002-12, Vol.80 (6), p.585-592 |
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| creator | Robledo, Renato Orru, Sandro Sidoti, Antonella Muresu, Rosella Esposito, Diane Grimaldi, Marie Claude Carcassi, Carlo Rinaldi, Antoniettina Bernini, Luigi Contu, Licinio Romani, Massimo Roe, Bruce Siniscalco, Marcello |
| description | We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IgλV genes at about 450 kb from the cluster of the IgλJ–C genes. These findings are not meant to be just another report of a polymorphic marker suitable for population studies. Rather, we wish to stress that a large number of inborn mute gaps may be spread all over the genome and that the many RDA-detected microdeletions already available are efficient tools for the discovery of this otherwise hidden category of genetic variation. Apart from their possible impact on expression of structural genes, mute gaps must be filled for the reference map of our genome to be truly completed. |
| doi_str_mv | 10.1006/geno.2002.7014 |
| format | Article |
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The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IgλV genes at about 450 kb from the cluster of the IgλJ–C genes. These findings are not meant to be just another report of a polymorphic marker suitable for population studies. Rather, we wish to stress that a large number of inborn mute gaps may be spread all over the genome and that the many RDA-detected microdeletions already available are efficient tools for the discovery of this otherwise hidden category of genetic variation. Apart from their possible impact on expression of structural genes, mute gaps must be filled for the reference map of our genome to be truly completed.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.2002.7014</identifier><identifier>PMID: 12504850</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Animals ; Biological and medical sciences ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Pair 22 - genetics ; Classical genetics, quantitative genetics, hybrids ; deletion/insertion polymorphism ; DNA - chemistry ; DNA - genetics ; Evolution, Molecular ; Fundamental and applied biological sciences. Psychology ; Genes. Genome ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics, Population ; genome diversity ; Genome, Human ; genomic gaps ; Haplotypes ; Human ; human chromosome 22 ; Humans ; Igλ genes ; Molecular and cellular biology ; Molecular genetics ; Mutagenesis, Insertional ; Polymorphism, Genetic ; Population genetics, reproduction patterns ; RDA-detected microdeletions ; Sequence Analysis, DNA ; Vertebrata</subject><ispartof>Genomics (San Diego, Calif.), 2002-12, Vol.80 (6), p.585-592</ispartof><rights>2002 Elsevier Science (USA)</rights><rights>2003 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c403t-3eaf61701fe8481fb96d95e3b4bad1e305d3918651672fdbaa0e4d37f775cf493</citedby><cites>FETCH-LOGICAL-c403t-3eaf61701fe8481fb96d95e3b4bad1e305d3918651672fdbaa0e4d37f775cf493</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S088875430297014X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14423225$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12504850$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Robledo, Renato</creatorcontrib><creatorcontrib>Orru, Sandro</creatorcontrib><creatorcontrib>Sidoti, Antonella</creatorcontrib><creatorcontrib>Muresu, Rosella</creatorcontrib><creatorcontrib>Esposito, Diane</creatorcontrib><creatorcontrib>Grimaldi, Marie Claude</creatorcontrib><creatorcontrib>Carcassi, Carlo</creatorcontrib><creatorcontrib>Rinaldi, Antoniettina</creatorcontrib><creatorcontrib>Bernini, Luigi</creatorcontrib><creatorcontrib>Contu, Licinio</creatorcontrib><creatorcontrib>Romani, Massimo</creatorcontrib><creatorcontrib>Roe, Bruce</creatorcontrib><creatorcontrib>Siniscalco, Marcello</creatorcontrib><title>A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IgλV genes at about 450 kb from the cluster of the IgλJ–C genes. These findings are not meant to be just another report of a polymorphic marker suitable for population studies. Rather, we wish to stress that a large number of inborn mute gaps may be spread all over the genome and that the many RDA-detected microdeletions already available are efficient tools for the discovery of this otherwise hidden category of genetic variation. Apart from their possible impact on expression of structural genes, mute gaps must be filled for the reference map of our genome to be truly completed.</description><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Chromosome Deletion</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>deletion/insertion polymorphism</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>Evolution, Molecular</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes. Genome</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genetics, Population</subject><subject>genome diversity</subject><subject>Genome, Human</subject><subject>genomic gaps</subject><subject>Haplotypes</subject><subject>Human</subject><subject>human chromosome 22</subject><subject>Humans</subject><subject>Igλ genes</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Mutagenesis, Insertional</subject><subject>Polymorphism, Genetic</subject><subject>Population genetics, reproduction patterns</subject><subject>RDA-detected microdeletions</subject><subject>Sequence Analysis, DNA</subject><subject>Vertebrata</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1P3DAQhi3UqmyhV46VL-WWMI6dxDkuH92uBAJBe7YcZ8y6JPFiZ1vx7-toV-LU04w0z7yaeQg5Y5AzgOriGUefFwBFXgMTR2TBQDaZrET1gSxASpnVpeDH5HOMvwGg4bL4RI5ZUYKQJSzItKRNzrKXlq70lrqRThukqxQ6IH1EiwFHg_QuzdaRPm3830R4eolU06dJtz3Sa-xxcn68WI8Rw9zRB9-_DT5sNy4O1Fu6TBlxCrqn98E9u_GUfLS6j_jlUE_Ir-83P69-ZLf3q_XV8jYzAviUcdS2Yukvi1JIZtum6poSeSta3THkUHa8YbIqWVUXtmu1BhQdr21dl8aKhp-Q833uNvjXXTpBDS4a7Hs9ot9FlXa5ZBVLYL4HTfAxBrRqG9ygw5tioGbPavasZs9q9pwWvh6Sd-2A3Tt-EJuAbwdAR6N7G_RoXHznhCh4UZSJk3sOk4c_DoOKxs3OOxfQTKrz7n83_AOMb5f-</recordid><startdate>20021201</startdate><enddate>20021201</enddate><creator>Robledo, Renato</creator><creator>Orru, Sandro</creator><creator>Sidoti, Antonella</creator><creator>Muresu, Rosella</creator><creator>Esposito, Diane</creator><creator>Grimaldi, Marie Claude</creator><creator>Carcassi, Carlo</creator><creator>Rinaldi, Antoniettina</creator><creator>Bernini, Luigi</creator><creator>Contu, Licinio</creator><creator>Romani, Massimo</creator><creator>Roe, Bruce</creator><creator>Siniscalco, Marcello</creator><general>Elsevier Inc</general><general>Elsevier</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>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20021201</creationdate><title>A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin</title><author>Robledo, Renato ; Orru, Sandro ; Sidoti, Antonella ; Muresu, Rosella ; Esposito, Diane ; Grimaldi, Marie Claude ; Carcassi, Carlo ; Rinaldi, Antoniettina ; Bernini, Luigi ; Contu, Licinio ; Romani, Massimo ; Roe, Bruce ; Siniscalco, Marcello</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c403t-3eaf61701fe8481fb96d95e3b4bad1e305d3918651672fdbaa0e4d37f775cf493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Chromosome Deletion</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 22 - genetics</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>deletion/insertion polymorphism</topic><topic>DNA - chemistry</topic><topic>DNA - genetics</topic><topic>Evolution, Molecular</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes. Genome</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genetics, Population</topic><topic>genome diversity</topic><topic>Genome, Human</topic><topic>genomic gaps</topic><topic>Haplotypes</topic><topic>Human</topic><topic>human chromosome 22</topic><topic>Humans</topic><topic>Igλ genes</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Mutagenesis, Insertional</topic><topic>Polymorphism, Genetic</topic><topic>Population genetics, reproduction patterns</topic><topic>RDA-detected microdeletions</topic><topic>Sequence Analysis, DNA</topic><topic>Vertebrata</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Robledo, Renato</creatorcontrib><creatorcontrib>Orru, Sandro</creatorcontrib><creatorcontrib>Sidoti, Antonella</creatorcontrib><creatorcontrib>Muresu, Rosella</creatorcontrib><creatorcontrib>Esposito, Diane</creatorcontrib><creatorcontrib>Grimaldi, Marie Claude</creatorcontrib><creatorcontrib>Carcassi, Carlo</creatorcontrib><creatorcontrib>Rinaldi, Antoniettina</creatorcontrib><creatorcontrib>Bernini, Luigi</creatorcontrib><creatorcontrib>Contu, Licinio</creatorcontrib><creatorcontrib>Romani, Massimo</creatorcontrib><creatorcontrib>Roe, Bruce</creatorcontrib><creatorcontrib>Siniscalco, Marcello</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>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Robledo, Renato</au><au>Orru, Sandro</au><au>Sidoti, Antonella</au><au>Muresu, Rosella</au><au>Esposito, Diane</au><au>Grimaldi, Marie Claude</au><au>Carcassi, Carlo</au><au>Rinaldi, Antoniettina</au><au>Bernini, Luigi</au><au>Contu, Licinio</au><au>Romani, Massimo</au><au>Roe, Bruce</au><au>Siniscalco, Marcello</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>2002-12-01</date><risdate>2002</risdate><volume>80</volume><issue>6</issue><spage>585</spage><epage>592</epage><pages>585-592</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IgλV genes at about 450 kb from the cluster of the IgλJ–C genes. These findings are not meant to be just another report of a polymorphic marker suitable for population studies. Rather, we wish to stress that a large number of inborn mute gaps may be spread all over the genome and that the many RDA-detected microdeletions already available are efficient tools for the discovery of this otherwise hidden category of genetic variation. Apart from their possible impact on expression of structural genes, mute gaps must be filled for the reference map of our genome to be truly completed.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>12504850</pmid><doi>10.1006/geno.2002.7014</doi><tpages>8</tpages></addata></record> |
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| ispartof | Genomics (San Diego, Calif.), 2002-12, Vol.80 (6), p.585-592 |
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| subjects | Animals Biological and medical sciences Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 22 - genetics Classical genetics, quantitative genetics, hybrids deletion/insertion polymorphism DNA - chemistry DNA - genetics Evolution, Molecular Fundamental and applied biological sciences. Psychology Genes. Genome Genetics of eukaryotes. Biological and molecular evolution Genetics, Population genome diversity Genome, Human genomic gaps Haplotypes Human human chromosome 22 Humans Igλ genes Molecular and cellular biology Molecular genetics Mutagenesis, Insertional Polymorphism, Genetic Population genetics, reproduction patterns RDA-detected microdeletions Sequence Analysis, DNA Vertebrata |
| title | A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin |
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