Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations
Current knowledge on chromosomal mosaicism in human cell cultures is mostly based on cytogenetic banding methods. The recent development of high-resolution full-genome analysis methods applicable to single cells is providing new insights into genetic and cellular diversity. Here we study the genetic...
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description | Current knowledge on chromosomal mosaicism in human cell cultures is mostly based on cytogenetic banding methods. The recent development of high-resolution full-genome analysis methods applicable to single cells is providing new insights into genetic and cellular diversity. Here we study the genetic content of 92 individual human cells, including fibroblasts, amniocytes and embryonic stem cells (hESCs), using single-cell array-based comparative genomic hybridization (aCGH). We find that human somatic and embryonic stem cell cultures show significant fractions of cells carrying unique megabase-scale chromosomal abnormalities, forming genetic mosaics that could not have been detected by conventional cytogenetic methods. These findings are confirmed by studying seven clonal hESC sub-lines by aCGH. Furthermore, fluorescent in situ hybridisation reveals an increased instability of the subtelomeric regions in hESC as compared to somatic cells. This genetic heterogeneity may have an impact on experimental results and, in the case of hESC, on their potential clinical use.
De novo
copy number variations are known to occur in somatic cell populations and pluripotent stem cells. Here the authors use single-cell array comparative genomic hybridization to identify copy number variations in individual human somatic and embryonic stem cells. |
doi_str_mv | 10.1038/ncomms5227 |
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De novo
copy number variations are known to occur in somatic cell populations and pluripotent stem cells. Here the authors use single-cell array comparative genomic hybridization to identify copy number variations in individual human somatic and embryonic stem cells.</description><identifier>ISSN: 2041-1723</identifier><identifier>EISSN: 2041-1723</identifier><identifier>DOI: 10.1038/ncomms5227</identifier><identifier>PMID: 24970340</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>13/100 ; 14/32 ; 631/136/532/2117 ; 631/208/2489/1381/1661 ; Amnion - cytology ; Amnion - metabolism ; Arrays ; Cell culture ; Cell Line ; Cells, Cultured ; Chromosomes ; Chromosomes, Human - genetics ; Comparative Genomic Hybridization ; Embryonic Stem Cells - metabolism ; Fibroblasts - metabolism ; Humanities and Social Sciences ; Humans ; Hybridization ; In Situ Hybridization, Fluorescence ; Mosaicism ; multidisciplinary ; Science ; Science (multidisciplinary) ; Stem cells</subject><ispartof>Nature communications, 2014-06, Vol.5 (1), p.4227-4227, Article 4227</ispartof><rights>Springer Nature Limited 2014</rights><rights>Copyright Nature Publishing Group Jun 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c387t-c7adb79a040377b25f22e8925f5fd2ca16de2365cd87c65d5912dd39689be87b3</citedby><cites>FETCH-LOGICAL-c387t-c7adb79a040377b25f22e8925f5fd2ca16de2365cd87c65d5912dd39689be87b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ncomms5227$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://doi.org/10.1038/ncomms5227$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41120,42189,51576</link.rule.ids><linktorsrc>$$Uhttps://doi.org/10.1038/ncomms5227$$EView_record_in_Springer_Nature$$FView_record_in_$$GSpringer_Nature</linktorsrc><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24970340$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jacobs, Kurt</creatorcontrib><creatorcontrib>Mertzanidou, Afroditi</creatorcontrib><creatorcontrib>Geens, Mieke</creatorcontrib><creatorcontrib>Thi Nguyen, Ha</creatorcontrib><creatorcontrib>Staessen, Catherine</creatorcontrib><creatorcontrib>Spits, Claudia</creatorcontrib><title>Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations</title><title>Nature communications</title><addtitle>Nat Commun</addtitle><addtitle>Nat Commun</addtitle><description>Current knowledge on chromosomal mosaicism in human cell cultures is mostly based on cytogenetic banding methods. The recent development of high-resolution full-genome analysis methods applicable to single cells is providing new insights into genetic and cellular diversity. Here we study the genetic content of 92 individual human cells, including fibroblasts, amniocytes and embryonic stem cells (hESCs), using single-cell array-based comparative genomic hybridization (aCGH). We find that human somatic and embryonic stem cell cultures show significant fractions of cells carrying unique megabase-scale chromosomal abnormalities, forming genetic mosaics that could not have been detected by conventional cytogenetic methods. These findings are confirmed by studying seven clonal hESC sub-lines by aCGH. Furthermore, fluorescent in situ hybridisation reveals an increased instability of the subtelomeric regions in hESC as compared to somatic cells. This genetic heterogeneity may have an impact on experimental results and, in the case of hESC, on their potential clinical use.
De novo
copy number variations are known to occur in somatic cell populations and pluripotent stem cells. Here the authors use single-cell array comparative genomic hybridization to identify copy number variations in individual human somatic and embryonic stem cells.</description><subject>13/100</subject><subject>14/32</subject><subject>631/136/532/2117</subject><subject>631/208/2489/1381/1661</subject><subject>Amnion - cytology</subject><subject>Amnion - metabolism</subject><subject>Arrays</subject><subject>Cell culture</subject><subject>Cell Line</subject><subject>Cells, Cultured</subject><subject>Chromosomes</subject><subject>Chromosomes, Human - genetics</subject><subject>Comparative Genomic Hybridization</subject><subject>Embryonic Stem Cells - metabolism</subject><subject>Fibroblasts - metabolism</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Hybridization</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Mosaicism</subject><subject>multidisciplinary</subject><subject>Science</subject><subject>Science (multidisciplinary)</subject><subject>Stem cells</subject><issn>2041-1723</issn><issn>2041-1723</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNplkF1LwzAUhoMobszd-AMk4I0o1Xy1aS9l-AUDb-Z1SZN062iSmrTI_r0pmx_ouXnP4Ty85_ACcI7RLUY0v7PSGRNSQvgRmBLEcII5oce_-gmYh7BFsWiBc8ZOwYSwgiPK0BSslu4jWXuhNJQb74wLzogWRhWNbIKBjYWbwQgLx0XfSCisgtpUfudsnEKvDZS6bWHnuqGNhLPhDJzUog16ftAZeHt8WC2ek-Xr08vifplImvM-kVyoihcCMUQ5r0haE6LzImpaKyIFzpQmNEulyrnMUpUWmChFiywvKp3zis7A1d638-590KEvTRPGZ4TVbgglThmmPOecR_TyD7p1g7fxu5FCnHGKWaSu95T0LgSv67LzjRF-V2JUjnGXP3FH-OJgOVRGq2_0K9wI3OyBEFd2rf2vm__tPgFYR4pX</recordid><startdate>20140627</startdate><enddate>20140627</enddate><creator>Jacobs, Kurt</creator><creator>Mertzanidou, Afroditi</creator><creator>Geens, Mieke</creator><creator>Thi Nguyen, Ha</creator><creator>Staessen, Catherine</creator><creator>Spits, Claudia</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</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>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SN</scope><scope>7SS</scope><scope>7ST</scope><scope>7T5</scope><scope>7T7</scope><scope>7TM</scope><scope>7TO</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>SOI</scope><scope>7X8</scope></search><sort><creationdate>20140627</creationdate><title>Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations</title><author>Jacobs, Kurt ; Mertzanidou, Afroditi ; Geens, Mieke ; Thi Nguyen, Ha ; Staessen, Catherine ; Spits, Claudia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387t-c7adb79a040377b25f22e8925f5fd2ca16de2365cd87c65d5912dd39689be87b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>13/100</topic><topic>14/32</topic><topic>631/136/532/2117</topic><topic>631/208/2489/1381/1661</topic><topic>Amnion - 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Academic</collection><jtitle>Nature communications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Jacobs, Kurt</au><au>Mertzanidou, Afroditi</au><au>Geens, Mieke</au><au>Thi Nguyen, Ha</au><au>Staessen, Catherine</au><au>Spits, Claudia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations</atitle><jtitle>Nature communications</jtitle><stitle>Nat Commun</stitle><addtitle>Nat Commun</addtitle><date>2014-06-27</date><risdate>2014</risdate><volume>5</volume><issue>1</issue><spage>4227</spage><epage>4227</epage><pages>4227-4227</pages><artnum>4227</artnum><issn>2041-1723</issn><eissn>2041-1723</eissn><abstract>Current knowledge on chromosomal mosaicism in human cell cultures is mostly based on cytogenetic banding methods. The recent development of high-resolution full-genome analysis methods applicable to single cells is providing new insights into genetic and cellular diversity. Here we study the genetic content of 92 individual human cells, including fibroblasts, amniocytes and embryonic stem cells (hESCs), using single-cell array-based comparative genomic hybridization (aCGH). We find that human somatic and embryonic stem cell cultures show significant fractions of cells carrying unique megabase-scale chromosomal abnormalities, forming genetic mosaics that could not have been detected by conventional cytogenetic methods. These findings are confirmed by studying seven clonal hESC sub-lines by aCGH. Furthermore, fluorescent in situ hybridisation reveals an increased instability of the subtelomeric regions in hESC as compared to somatic cells. This genetic heterogeneity may have an impact on experimental results and, in the case of hESC, on their potential clinical use.
De novo
copy number variations are known to occur in somatic cell populations and pluripotent stem cells. Here the authors use single-cell array comparative genomic hybridization to identify copy number variations in individual human somatic and embryonic stem cells.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>24970340</pmid><doi>10.1038/ncomms5227</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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subjects | 13/100 14/32 631/136/532/2117 631/208/2489/1381/1661 Amnion - cytology Amnion - metabolism Arrays Cell culture Cell Line Cells, Cultured Chromosomes Chromosomes, Human - genetics Comparative Genomic Hybridization Embryonic Stem Cells - metabolism Fibroblasts - metabolism Humanities and Social Sciences Humans Hybridization In Situ Hybridization, Fluorescence Mosaicism multidisciplinary Science Science (multidisciplinary) Stem cells |
title | Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations |
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