Molecular Mechanism in the Formation of a Human Ring Chromosome 21
We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 [r(21)]. Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation...
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| Veröffentlicht in: | Proceedings of the National Academy of Sciences - PNAS 1989-03, Vol.86 (6), p.1914-1918 |
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| container_end_page | 1918 |
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| container_issue | 6 |
| container_start_page | 1914 |
| container_title | Proceedings of the National Academy of Sciences - PNAS |
| container_volume | 86 |
| creator | Wong, Corinne Kazazian, Haig H. Stetten, Gail Earnshaw, William C. Van Keuren, Margaret L. Antonarakis, Stylianos E. |
| description | We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 [r(21)]. Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). In addition, the centromere and proximal long arm region of a maternal chromosome 21 are duplicated in the r(21). Therefore, the mechanism in formation of the r(21) was complex involving two sequential chromosomal rearrangements. (i) Duplication of the centromere and long arm of one maternal chromosome 21 occurred forming a rearranged intermediate. (ii) Chromosomal breaks in both the proximal and telomeric long arm regions on opposite arms of this rearranged chromosome occurred with subsequent reunion producing the r(21). |
| doi_str_mv | 10.1073/pnas.86.6.1914 |
| format | Article |
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Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). In addition, the centromere and proximal long arm region of a maternal chromosome 21 are duplicated in the r(21). Therefore, the mechanism in formation of the r(21) was complex involving two sequential chromosomal rearrangements. (i) Duplication of the centromere and long arm of one maternal chromosome 21 occurred forming a rearranged intermediate. (ii) Chromosomal breaks in both the proximal and telomeric long arm regions on opposite arms of this rearranged chromosome occurred with subsequent reunion producing the r(21).</description><identifier>ISSN: 0027-8424</identifier><identifier>EISSN: 1091-6490</identifier><identifier>DOI: 10.1073/pnas.86.6.1914</identifier><identifier>PMID: 2648387</identifier><identifier>CODEN: PNASA6</identifier><language>eng</language><publisher>Washington, DC: National Academy of Sciences of the United States of America</publisher><subject>550201 - Biochemistry- Tracer Techniques ; Alleles ; Amnion - analysis ; Amnion - ultrastructure ; ANIMALS ; Base Sequence ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; Cells, Cultured ; Centromeres ; Children ; CHROMOSOMAL ABERRATIONS ; Chromosome Aberrations ; Chromosome Mapping ; CHROMOSOMES ; Chromosomes, Human, Pair 21 - ultrastructure ; Classical genetics, quantitative genetics, hybrids ; CLONING ; Cloning, Molecular ; DNA ; DNA - genetics ; DNA HYBRIDIZATION ; DNA Probes ; DNA-CLONING ; Female ; Fibroblasts - analysis ; Fibroblasts - ultrastructure ; FLUORESCENCE ; Fluorescent Antibody Technique ; Fundamental and applied biological sciences. Psychology ; Genetic loci ; GENETIC MAPPING ; Genetics of eukaryotes. Biological and molecular evolution ; HETEROCHROMOSOMES ; Human ; HUMAN CHROMOSOME 21 ; Humans ; Hybrid cells ; Hybridity ; HYBRIDIZATION ; LUMINESCENCE ; Lymphocytes - analysis ; Lymphocytes - ultrastructure ; Male ; MAMMALS ; MAN ; MAPPING ; MATHEMATICAL MODELS ; MOLECULAR BIOLOGY ; MOLECULAR MODELS ; Molecular Sequence Data ; MUTATIONS ; Nucleic Acid Hybridization ; Polymorphism, Genetic ; PRIMATES ; Ring Chromosomes ; Sequence Homology, Nucleic Acid ; VERTEBRATES</subject><ispartof>Proceedings of the National Academy of Sciences - PNAS, 1989-03, Vol.86 (6), p.1914-1918</ispartof><rights>1990 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c543t-80337d5c283c7369a17dd73c32084146a53a963f466bbdb906fa4c86a0f8901d3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://www.pnas.org/content/86/6.cover.gif</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/33548$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/33548$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,723,776,780,799,881,27901,27902,53766,53768,57992,58225</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=6968819$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2648387$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/7266900$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Wong, Corinne</creatorcontrib><creatorcontrib>Kazazian, Haig H.</creatorcontrib><creatorcontrib>Stetten, Gail</creatorcontrib><creatorcontrib>Earnshaw, William C.</creatorcontrib><creatorcontrib>Van Keuren, Margaret L.</creatorcontrib><creatorcontrib>Antonarakis, Stylianos E.</creatorcontrib><title>Molecular Mechanism in the Formation of a Human Ring Chromosome 21</title><title>Proceedings of the National Academy of Sciences - PNAS</title><addtitle>Proc Natl Acad Sci U S A</addtitle><description>We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 [r(21)]. Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). In addition, the centromere and proximal long arm region of a maternal chromosome 21 are duplicated in the r(21). Therefore, the mechanism in formation of the r(21) was complex involving two sequential chromosomal rearrangements. (i) Duplication of the centromere and long arm of one maternal chromosome 21 occurred forming a rearranged intermediate. (ii) Chromosomal breaks in both the proximal and telomeric long arm regions on opposite arms of this rearranged chromosome occurred with subsequent reunion producing the r(21).</description><subject>550201 - Biochemistry- Tracer Techniques</subject><subject>Alleles</subject><subject>Amnion - analysis</subject><subject>Amnion - ultrastructure</subject><subject>ANIMALS</subject><subject>Base Sequence</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured</subject><subject>Centromeres</subject><subject>Children</subject><subject>CHROMOSOMAL ABERRATIONS</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Mapping</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 21 - ultrastructure</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>CLONING</subject><subject>Cloning, Molecular</subject><subject>DNA</subject><subject>DNA - genetics</subject><subject>DNA HYBRIDIZATION</subject><subject>DNA Probes</subject><subject>DNA-CLONING</subject><subject>Female</subject><subject>Fibroblasts - analysis</subject><subject>Fibroblasts - ultrastructure</subject><subject>FLUORESCENCE</subject><subject>Fluorescent Antibody Technique</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic loci</subject><subject>GENETIC MAPPING</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>HETEROCHROMOSOMES</subject><subject>Human</subject><subject>HUMAN CHROMOSOME 21</subject><subject>Humans</subject><subject>Hybrid cells</subject><subject>Hybridity</subject><subject>HYBRIDIZATION</subject><subject>LUMINESCENCE</subject><subject>Lymphocytes - analysis</subject><subject>Lymphocytes - ultrastructure</subject><subject>Male</subject><subject>MAMMALS</subject><subject>MAN</subject><subject>MAPPING</subject><subject>MATHEMATICAL MODELS</subject><subject>MOLECULAR BIOLOGY</subject><subject>MOLECULAR MODELS</subject><subject>Molecular Sequence Data</subject><subject>MUTATIONS</subject><subject>Nucleic Acid Hybridization</subject><subject>Polymorphism, Genetic</subject><subject>PRIMATES</subject><subject>Ring Chromosomes</subject><subject>Sequence Homology, Nucleic Acid</subject><subject>VERTEBRATES</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1rFTEUxYMo9VnduhCEIMXdjPmafCy6sA9rhRZBdB3yMpm-lJnkmWRK-993hvccniC4uovzO_fcywHgLUY1RoJ-2gWTa8lrXmOF2TOwwkjhijOFnoMVQkRUkhH2ErzK-Q4hpBqJTsAJ4UxSKVbg4ib2zo69SfDG2a0JPg_QB1i2Dl7GNJjiY4CxgwZejYMJ8IcPt3C9TXGIOQ4OEvwavOhMn92bwzwFvy6__FxfVdffv35bf76ubMNoqSSiVLSNJZJaQbkyWLStoJYSJBlm3DTUKE47xvlm024U4p1hVnKDOqkQbukpON_v3Y2bwbXWhZJMr3fJDyY96mi8_lsJfqtv470mkkvcTP4Pe3_MxetsfZketjEEZ4sWhHOF0AR9PISk-Ht0uejBZ-v63gQXx6yFVKRpJPkvOAUigdkM1nvQpphzct1yMUZ6rlDPFWrJNddzhZPh_fGfC37obNLPDrrJ1vRdMsH6vGBccSmxOjpwXv9HXWJ0N_Z9cQ_lKO-f4KS_2-t3ucS0AJQ20z1PhrzC_w</recordid><startdate>19890301</startdate><enddate>19890301</enddate><creator>Wong, Corinne</creator><creator>Kazazian, Haig H.</creator><creator>Stetten, Gail</creator><creator>Earnshaw, William C.</creator><creator>Van Keuren, Margaret L.</creator><creator>Antonarakis, Stylianos E.</creator><general>National Academy of Sciences of the United States of America</general><general>National Acad Sciences</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><scope>7X8</scope><scope>OTOTI</scope><scope>5PM</scope></search><sort><creationdate>19890301</creationdate><title>Molecular Mechanism in the Formation of a Human Ring Chromosome 21</title><author>Wong, Corinne ; Kazazian, Haig H. ; Stetten, Gail ; Earnshaw, William C. ; Van Keuren, Margaret L. ; Antonarakis, Stylianos E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c543t-80337d5c283c7369a17dd73c32084146a53a963f466bbdb906fa4c86a0f8901d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>550201 - Biochemistry- Tracer Techniques</topic><topic>Alleles</topic><topic>Amnion - analysis</topic><topic>Amnion - ultrastructure</topic><topic>ANIMALS</topic><topic>Base Sequence</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Centromeres</topic><topic>Children</topic><topic>CHROMOSOMAL ABERRATIONS</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Mapping</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 21 - ultrastructure</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>CLONING</topic><topic>Cloning, Molecular</topic><topic>DNA</topic><topic>DNA - genetics</topic><topic>DNA HYBRIDIZATION</topic><topic>DNA Probes</topic><topic>DNA-CLONING</topic><topic>Female</topic><topic>Fibroblasts - analysis</topic><topic>Fibroblasts - ultrastructure</topic><topic>FLUORESCENCE</topic><topic>Fluorescent Antibody Technique</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic loci</topic><topic>GENETIC MAPPING</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>HETEROCHROMOSOMES</topic><topic>Human</topic><topic>HUMAN CHROMOSOME 21</topic><topic>Humans</topic><topic>Hybrid cells</topic><topic>Hybridity</topic><topic>HYBRIDIZATION</topic><topic>LUMINESCENCE</topic><topic>Lymphocytes - analysis</topic><topic>Lymphocytes - ultrastructure</topic><topic>Male</topic><topic>MAMMALS</topic><topic>MAN</topic><topic>MAPPING</topic><topic>MATHEMATICAL MODELS</topic><topic>MOLECULAR BIOLOGY</topic><topic>MOLECULAR MODELS</topic><topic>Molecular Sequence Data</topic><topic>MUTATIONS</topic><topic>Nucleic Acid Hybridization</topic><topic>Polymorphism, Genetic</topic><topic>PRIMATES</topic><topic>Ring Chromosomes</topic><topic>Sequence Homology, Nucleic Acid</topic><topic>VERTEBRATES</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wong, Corinne</creatorcontrib><creatorcontrib>Kazazian, Haig H.</creatorcontrib><creatorcontrib>Stetten, Gail</creatorcontrib><creatorcontrib>Earnshaw, William C.</creatorcontrib><creatorcontrib>Van Keuren, Margaret L.</creatorcontrib><creatorcontrib>Antonarakis, Stylianos E.</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><collection>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wong, Corinne</au><au>Kazazian, Haig H.</au><au>Stetten, Gail</au><au>Earnshaw, William C.</au><au>Van Keuren, Margaret L.</au><au>Antonarakis, Stylianos E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular Mechanism in the Formation of a Human Ring Chromosome 21</atitle><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle><addtitle>Proc Natl Acad Sci U S A</addtitle><date>1989-03-01</date><risdate>1989</risdate><volume>86</volume><issue>6</issue><spage>1914</spage><epage>1918</epage><pages>1914-1918</pages><issn>0027-8424</issn><eissn>1091-6490</eissn><coden>PNASA6</coden><abstract>We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 [r(21)]. Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). In addition, the centromere and proximal long arm region of a maternal chromosome 21 are duplicated in the r(21). Therefore, the mechanism in formation of the r(21) was complex involving two sequential chromosomal rearrangements. (i) Duplication of the centromere and long arm of one maternal chromosome 21 occurred forming a rearranged intermediate. (ii) Chromosomal breaks in both the proximal and telomeric long arm regions on opposite arms of this rearranged chromosome occurred with subsequent reunion producing the r(21).</abstract><cop>Washington, DC</cop><pub>National Academy of Sciences of the United States of America</pub><pmid>2648387</pmid><doi>10.1073/pnas.86.6.1914</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0027-8424 |
| ispartof | Proceedings of the National Academy of Sciences - PNAS, 1989-03, Vol.86 (6), p.1914-1918 |
| issn | 0027-8424 1091-6490 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_78925582 |
| source | Jstor Complete Legacy; MEDLINE; PubMed Central; Alma/SFX Local Collection; Free Full-Text Journals in Chemistry |
| subjects | 550201 - Biochemistry- Tracer Techniques Alleles Amnion - analysis Amnion - ultrastructure ANIMALS Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences Cells, Cultured Centromeres Children CHROMOSOMAL ABERRATIONS Chromosome Aberrations Chromosome Mapping CHROMOSOMES Chromosomes, Human, Pair 21 - ultrastructure Classical genetics, quantitative genetics, hybrids CLONING Cloning, Molecular DNA DNA - genetics DNA HYBRIDIZATION DNA Probes DNA-CLONING Female Fibroblasts - analysis Fibroblasts - ultrastructure FLUORESCENCE Fluorescent Antibody Technique Fundamental and applied biological sciences. Psychology Genetic loci GENETIC MAPPING Genetics of eukaryotes. Biological and molecular evolution HETEROCHROMOSOMES Human HUMAN CHROMOSOME 21 Humans Hybrid cells Hybridity HYBRIDIZATION LUMINESCENCE Lymphocytes - analysis Lymphocytes - ultrastructure Male MAMMALS MAN MAPPING MATHEMATICAL MODELS MOLECULAR BIOLOGY MOLECULAR MODELS Molecular Sequence Data MUTATIONS Nucleic Acid Hybridization Polymorphism, Genetic PRIMATES Ring Chromosomes Sequence Homology, Nucleic Acid VERTEBRATES |
| title | Molecular Mechanism in the Formation of a Human Ring Chromosome 21 |
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