Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7
Human minisatellite B6.7 is a highly variable locus showing extensive heterozygosity with alleles ranging from six to >500 repeat units. Paternal and maternal mutation rates to new length alleles were estimated from pedigrees at 7.0 and 3.9% per gamete, respectively, indicating that B6.7 is one o...
Gespeichert in:
| Veröffentlicht in: | Human molecular genetics 1999-05, Vol.8 (5), p.879-888 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 888 |
|---|---|
| container_issue | 5 |
| container_start_page | 879 |
| container_title | Human molecular genetics |
| container_volume | 8 |
| creator | Tamaki, Keiji May, Celia A. Dubrova, Yuri E. Jeffreys, Alec J. |
| description | Human minisatellite B6.7 is a highly variable locus showing extensive heterozygosity with alleles ranging from six to >500 repeat units. Paternal and maternal mutation rates to new length alleles were estimated from pedigrees at 7.0 and 3.9% per gamete, respectively, indicating that B6.7 is one of the most unstable minisatellites isolated to date. Mutation at this locus was also analysed by small pool PCR of sperm and blood DNA. Male germline instability varied from |
| doi_str_mv | 10.1093/hmg/8.5.879 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_69680227</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>373598461</sourcerecordid><originalsourceid>FETCH-LOGICAL-c542t-1e7475df016d447d9779d8115edabdc53fb4e027756cbf6da9c9380170e8aed03</originalsourceid><addsrcrecordid>eNqF0ctrFEEQB-BGFLNGT95lEMlFZtM9_ajuo1nirpAg5KV4aXqna5KJ89h098Dmv7fDLipePBVFfRRV_Ah5y-icUcOP7_rbYz2Xcw3mGZkxoWhZUc2fkxk1SpTKUHVAXsV4TylTgsNLcsAoM4qDnpFvp9sUsMfusViM_abDbXGBG3SpuLybmqZrh9vCT-GpLDH0ucfifEouteNQZLWaejcU5-3QRpew69qExYmaw2vyonFdxDf7ekiuP59eLVbl2dfll8Wns7KWokolQxAgfZMv80KANwDGa8Ykerf2teTNWiCtAKSq143yztSGa8qAonboKT8kR7u9mzA-TBiT7dtY50PcgOMUrTJK06qC_0IGlRRciAzf_wPvxykM-QlbMVYBBakz-rhDdRhjDNjYTWh7Fx4to_YpFZtTsdpKm1PJ-t1-5bTu0f9ldzFk8GEPXKxd1wQ31G3840AJWbHMyh1rY8Lt77ELP60CDtKuvv-w6ubihi6vVvaE_wKD3qMM</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>211270758</pqid></control><display><type>article</type><title>Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Oxford University Press Journals All Titles (1996-Current)</source><creator>Tamaki, Keiji ; May, Celia A. ; Dubrova, Yuri E. ; Jeffreys, Alec J.</creator><creatorcontrib>Tamaki, Keiji ; May, Celia A. ; Dubrova, Yuri E. ; Jeffreys, Alec J.</creatorcontrib><description>Human minisatellite B6.7 is a highly variable locus showing extensive heterozygosity with alleles ranging from six to >500 repeat units. Paternal and maternal mutation rates to new length alleles were estimated from pedigrees at 7.0 and 3.9% per gamete, respectively, indicating that B6.7 is one of the most unstable minisatellites isolated to date. Mutation at this locus was also analysed by small pool PCR of sperm and blood DNA. Male germline instability varied from <0.8 to 14% per allele and increased with tandem array size. In contrast, the frequency of mutants in somatic (blood) DNA was far lower (<0.5%), consistent with a meiotic origin of germline mutants. Sperm mutants were further characterized by minisatellite variant repeat mapping using four major polymorphic sites within the B6.7 repeats. This highly informative system revealed a wide variety of changes in allele structure, including simple intra-allelic duplications and deletions and more complicated inter- and intra-allelic transfers of repeat blocks, as seen at other human minisatellites. The main mode of sperm mutation, however, resulted in extremely complex allele reorganization with evidence of inter-allelic transfer plus the generation of novel repeats by rearrangement at the sub-repeat level, suggesting that recombinational instability at B6.7 is a complex multistep process.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/8.5.879</identifier><identifier>PMID: 10196378</identifier><identifier>CODEN: HNGEE5</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Alleles ; Amino Acid Sequence ; Base Sequence ; Biological and medical sciences ; Classical genetics, quantitative genetics, hybrids ; Deoxyribonucleases, Type II Site-Specific - genetics ; Deoxyribonucleases, Type II Site-Specific - metabolism ; Fundamental and applied biological sciences. Psychology ; Genetic Variation ; Genetics of eukaryotes. Biological and molecular evolution ; Germ-Line Mutation ; Human ; Humans ; Male ; Minisatellite Repeats ; Molecular Sequence Data ; Pedigree ; Polymerase Chain Reaction - methods ; Repetitive Sequences, Nucleic Acid ; Sequence Deletion ; Spermatozoa - physiology</subject><ispartof>Human molecular genetics, 1999-05, Vol.8 (5), p.879-888</ispartof><rights>1999 INIST-CNRS</rights><rights>Copyright Oxford University Press(England) May 1999</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c542t-1e7475df016d447d9779d8115edabdc53fb4e027756cbf6da9c9380170e8aed03</citedby><cites>FETCH-LOGICAL-c542t-1e7475df016d447d9779d8115edabdc53fb4e027756cbf6da9c9380170e8aed03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1764521$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10196378$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tamaki, Keiji</creatorcontrib><creatorcontrib>May, Celia A.</creatorcontrib><creatorcontrib>Dubrova, Yuri E.</creatorcontrib><creatorcontrib>Jeffreys, Alec J.</creatorcontrib><title>Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7</title><title>Human molecular genetics</title><addtitle>Human Molecular Genetics</addtitle><description>Human minisatellite B6.7 is a highly variable locus showing extensive heterozygosity with alleles ranging from six to >500 repeat units. Paternal and maternal mutation rates to new length alleles were estimated from pedigrees at 7.0 and 3.9% per gamete, respectively, indicating that B6.7 is one of the most unstable minisatellites isolated to date. Mutation at this locus was also analysed by small pool PCR of sperm and blood DNA. Male germline instability varied from <0.8 to 14% per allele and increased with tandem array size. In contrast, the frequency of mutants in somatic (blood) DNA was far lower (<0.5%), consistent with a meiotic origin of germline mutants. Sperm mutants were further characterized by minisatellite variant repeat mapping using four major polymorphic sites within the B6.7 repeats. This highly informative system revealed a wide variety of changes in allele structure, including simple intra-allelic duplications and deletions and more complicated inter- and intra-allelic transfers of repeat blocks, as seen at other human minisatellites. The main mode of sperm mutation, however, resulted in extremely complex allele reorganization with evidence of inter-allelic transfer plus the generation of novel repeats by rearrangement at the sub-repeat level, suggesting that recombinational instability at B6.7 is a complex multistep process.</description><subject>Alleles</subject><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Deoxyribonucleases, Type II Site-Specific - genetics</subject><subject>Deoxyribonucleases, Type II Site-Specific - metabolism</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Variation</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Germ-Line Mutation</subject><subject>Human</subject><subject>Humans</subject><subject>Male</subject><subject>Minisatellite Repeats</subject><subject>Molecular Sequence Data</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Repetitive Sequences, Nucleic Acid</subject><subject>Sequence Deletion</subject><subject>Spermatozoa - physiology</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0ctrFEEQB-BGFLNGT95lEMlFZtM9_ajuo1nirpAg5KV4aXqna5KJ89h098Dmv7fDLipePBVFfRRV_Ah5y-icUcOP7_rbYz2Xcw3mGZkxoWhZUc2fkxk1SpTKUHVAXsV4TylTgsNLcsAoM4qDnpFvp9sUsMfusViM_abDbXGBG3SpuLybmqZrh9vCT-GpLDH0ucfifEouteNQZLWaejcU5-3QRpew69qExYmaw2vyonFdxDf7ekiuP59eLVbl2dfll8Wns7KWokolQxAgfZMv80KANwDGa8Ykerf2teTNWiCtAKSq143yztSGa8qAonboKT8kR7u9mzA-TBiT7dtY50PcgOMUrTJK06qC_0IGlRRciAzf_wPvxykM-QlbMVYBBakz-rhDdRhjDNjYTWh7Fx4to_YpFZtTsdpKm1PJ-t1-5bTu0f9ldzFk8GEPXKxd1wQ31G3840AJWbHMyh1rY8Lt77ELP60CDtKuvv-w6ubihi6vVvaE_wKD3qMM</recordid><startdate>19990501</startdate><enddate>19990501</enddate><creator>Tamaki, Keiji</creator><creator>May, Celia A.</creator><creator>Dubrova, Yuri E.</creator><creator>Jeffreys, Alec J.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19990501</creationdate><title>Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7</title><author>Tamaki, Keiji ; May, Celia A. ; Dubrova, Yuri E. ; Jeffreys, Alec J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c542t-1e7475df016d447d9779d8115edabdc53fb4e027756cbf6da9c9380170e8aed03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Alleles</topic><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Deoxyribonucleases, Type II Site-Specific - genetics</topic><topic>Deoxyribonucleases, Type II Site-Specific - metabolism</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic Variation</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Germ-Line Mutation</topic><topic>Human</topic><topic>Humans</topic><topic>Male</topic><topic>Minisatellite Repeats</topic><topic>Molecular Sequence Data</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>Sequence Deletion</topic><topic>Spermatozoa - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tamaki, Keiji</creatorcontrib><creatorcontrib>May, Celia A.</creatorcontrib><creatorcontrib>Dubrova, Yuri E.</creatorcontrib><creatorcontrib>Jeffreys, Alec J.</creatorcontrib><collection>Istex</collection><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>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tamaki, Keiji</au><au>May, Celia A.</au><au>Dubrova, Yuri E.</au><au>Jeffreys, Alec J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Human Molecular Genetics</addtitle><date>1999-05-01</date><risdate>1999</risdate><volume>8</volume><issue>5</issue><spage>879</spage><epage>888</epage><pages>879-888</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><coden>HNGEE5</coden><abstract>Human minisatellite B6.7 is a highly variable locus showing extensive heterozygosity with alleles ranging from six to >500 repeat units. Paternal and maternal mutation rates to new length alleles were estimated from pedigrees at 7.0 and 3.9% per gamete, respectively, indicating that B6.7 is one of the most unstable minisatellites isolated to date. Mutation at this locus was also analysed by small pool PCR of sperm and blood DNA. Male germline instability varied from <0.8 to 14% per allele and increased with tandem array size. In contrast, the frequency of mutants in somatic (blood) DNA was far lower (<0.5%), consistent with a meiotic origin of germline mutants. Sperm mutants were further characterized by minisatellite variant repeat mapping using four major polymorphic sites within the B6.7 repeats. This highly informative system revealed a wide variety of changes in allele structure, including simple intra-allelic duplications and deletions and more complicated inter- and intra-allelic transfers of repeat blocks, as seen at other human minisatellites. The main mode of sperm mutation, however, resulted in extremely complex allele reorganization with evidence of inter-allelic transfer plus the generation of novel repeats by rearrangement at the sub-repeat level, suggesting that recombinational instability at B6.7 is a complex multistep process.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>10196378</pmid><doi>10.1093/hmg/8.5.879</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0964-6906 |
| ispartof | Human molecular genetics, 1999-05, Vol.8 (5), p.879-888 |
| issn | 0964-6906 1460-2083 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69680227 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current) |
| subjects | Alleles Amino Acid Sequence Base Sequence Biological and medical sciences Classical genetics, quantitative genetics, hybrids Deoxyribonucleases, Type II Site-Specific - genetics Deoxyribonucleases, Type II Site-Specific - metabolism Fundamental and applied biological sciences. Psychology Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Germ-Line Mutation Human Humans Male Minisatellite Repeats Molecular Sequence Data Pedigree Polymerase Chain Reaction - methods Repetitive Sequences, Nucleic Acid Sequence Deletion Spermatozoa - physiology |
| title | Extremely Complex Repeat Shuffling during Germline Mutation at Human Minisatellite B6.7 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-28T19%3A44%3A48IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Extremely%20Complex%20Repeat%20Shuffling%20during%20Germline%20Mutation%20at%20Human%20Minisatellite%20B6.7&rft.jtitle=Human%20molecular%20genetics&rft.au=Tamaki,%20Keiji&rft.date=1999-05-01&rft.volume=8&rft.issue=5&rft.spage=879&rft.epage=888&rft.pages=879-888&rft.issn=0964-6906&rft.eissn=1460-2083&rft.coden=HNGEE5&rft_id=info:doi/10.1093/hmg/8.5.879&rft_dat=%3Cproquest_cross%3E373598461%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=211270758&rft_id=info:pmid/10196378&rfr_iscdi=true |