Huntington Disease Expansion Mutations in Humans Can Occur before Meiosis Is Completed
Single-molecule DNA analysis of testicular germ cells isolated by laser capture microdissection from two Huntington disease patients showed that trinucleotide repeat expansion mutations were present before the end of the first meiotic division, and some mutations were present even before meiosis beg...
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| Veröffentlicht in: | Proceedings of the National Academy of Sciences - PNAS 2003-07, Vol.100 (15), p.8834-8838 |
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| container_title | Proceedings of the National Academy of Sciences - PNAS |
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| creator | Yoon, Song-Ro Dubeau, Louis de Young, Margot Wexler, Nancy S. Arnheim, Norman |
| description | Single-molecule DNA analysis of testicular germ cells isolated by laser capture microdissection from two Huntington disease patients showed that trinucleotide repeat expansion mutations were present before the end of the first meiotic division, and some mutations were present even before meiosis began. Most of the larger Huntington disease mutations were found in the postmeiotic cell population, suggesting that expansions may continue to occur during meiosis and/or after meiosis is complete. Defining the germ-line cell compartments where the trinucleotide repeat expansions occur could help to elucidate the underlying mechanisms of instability. |
| doi_str_mv | 10.1073/pnas.1331390100 |
| format | Article |
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Most of the larger Huntington disease mutations were found in the postmeiotic cell population, suggesting that expansions may continue to occur during meiosis and/or after meiosis is complete. 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Defining the germ-line cell compartments where the trinucleotide repeat expansions occur could help to elucidate the underlying mechanisms of instability.</description><subject>Adult</subject><subject>Alleles</subject><subject>Biological Sciences</subject><subject>Disease</subject><subject>Genetic mutation</subject><subject>Germ cells</subject><subject>Germ-Line Mutation</subject><subject>Humans</subject><subject>Huntington disease</subject><subject>Huntington Disease - genetics</subject><subject>Huntington Disease - pathology</subject><subject>Male</subject><subject>Meiosis</subject><subject>Meiosis - genetics</subject><subject>Middle Aged</subject><subject>Minisatellite Repeats</subject><subject>Mutation</subject><subject>Polymerase chain reaction</subject><subject>Seminiferous tubules</subject><subject>Sertoli cells</subject><subject>Spermatogonia - metabolism</subject><subject>Spermatogonia - pathology</subject><subject>Spermatozoa</subject><subject>Stem cells</subject><subject>Trinucleotide Repeats</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1v1DAQxS0EokvhzAVBxAFxSTv-SuwDB7QUtlKrXoCr5ThO8SqxF9tB5b_H0a66wAFOtjy_9zwzD6HnGM4wtPR853U6w5RiKgEDPEArDBLXDZPwEK0ASFsLRtgJepLSFgAkF_AYnWAieCs5X6Gvm9ln529z8NUHl6xOtrq422mfXHm5nrPO5ZIq56vNPJXnaq19dWPMHKvODiHa6tq6kFyqLkstTLvRZts_RY8GPSb77HCeoi8fLz6vN_XVzafL9fur2nAJucYNtUz0RpKe95J20gzCUIM7AloCs1awnlBDRQNkwB0bZBlAtBJ3rSC8LOAUvdv77uZusr2xPkc9ql10k44_VdBO_Vnx7pu6DT8UbhoqZdG_Oehj-D7blNXkkrHjqL0Nc1ItZeVHxv8L4tKVIGJxfP0XuA1z9GUJigAmDeZ4cTvfQyaGlKId7jvGoJZg1RKsOgZbFC9_H_TIH5IswKsDsCiPdsWPKyEoK8TbfxNqmMcx27tc0Bd7dJtyiPcsxUxQEPQX4ZXAJw</recordid><startdate>20030722</startdate><enddate>20030722</enddate><creator>Yoon, Song-Ro</creator><creator>Dubeau, Louis</creator><creator>de Young, Margot</creator><creator>Wexler, Nancy S.</creator><creator>Arnheim, Norman</creator><general>National Academy of Sciences</general><general>National Acad Sciences</general><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>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>M7N</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20030722</creationdate><title>Huntington Disease Expansion Mutations in Humans Can Occur before Meiosis Is Completed</title><author>Yoon, Song-Ro ; Dubeau, Louis ; de Young, Margot ; Wexler, Nancy S. ; Arnheim, Norman</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c590t-163e48dc92d5d93b9cf8c3c1b20a904ee84d23c38602f1b4f99588791b7825073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Biological Sciences</topic><topic>Disease</topic><topic>Genetic mutation</topic><topic>Germ cells</topic><topic>Germ-Line Mutation</topic><topic>Humans</topic><topic>Huntington disease</topic><topic>Huntington Disease - genetics</topic><topic>Huntington Disease - pathology</topic><topic>Male</topic><topic>Meiosis</topic><topic>Meiosis - genetics</topic><topic>Middle Aged</topic><topic>Minisatellite Repeats</topic><topic>Mutation</topic><topic>Polymerase chain reaction</topic><topic>Seminiferous tubules</topic><topic>Sertoli cells</topic><topic>Spermatogonia - metabolism</topic><topic>Spermatogonia - pathology</topic><topic>Spermatozoa</topic><topic>Stem cells</topic><topic>Trinucleotide Repeats</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yoon, Song-Ro</creatorcontrib><creatorcontrib>Dubeau, Louis</creatorcontrib><creatorcontrib>de Young, Margot</creatorcontrib><creatorcontrib>Wexler, Nancy S.</creatorcontrib><creatorcontrib>Arnheim, Norman</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</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>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</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>Yoon, Song-Ro</au><au>Dubeau, Louis</au><au>de Young, Margot</au><au>Wexler, Nancy S.</au><au>Arnheim, Norman</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Huntington Disease Expansion Mutations in Humans Can Occur before Meiosis Is Completed</atitle><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle><addtitle>Proc Natl Acad Sci U S A</addtitle><date>2003-07-22</date><risdate>2003</risdate><volume>100</volume><issue>15</issue><spage>8834</spage><epage>8838</epage><pages>8834-8838</pages><issn>0027-8424</issn><eissn>1091-6490</eissn><abstract>Single-molecule DNA analysis of testicular germ cells isolated by laser capture microdissection from two Huntington disease patients showed that trinucleotide repeat expansion mutations were present before the end of the first meiotic division, and some mutations were present even before meiosis began. 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| source | MEDLINE; JSTOR Archive Collection A-Z Listing; PubMed Central; Alma/SFX Local Collection; Free Full-Text Journals in Chemistry |
| subjects | Adult Alleles Biological Sciences Disease Genetic mutation Germ cells Germ-Line Mutation Humans Huntington disease Huntington Disease - genetics Huntington Disease - pathology Male Meiosis Meiosis - genetics Middle Aged Minisatellite Repeats Mutation Polymerase chain reaction Seminiferous tubules Sertoli cells Spermatogonia - metabolism Spermatogonia - pathology Spermatozoa Stem cells Trinucleotide Repeats |
| title | Huntington Disease Expansion Mutations in Humans Can Occur before Meiosis Is Completed |
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