William's syndrome: gene expression is related to parental origin and regional coordinate control
William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24–28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the geneti...
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| Veröffentlicht in: | Journal of human genetics 2009-04, Vol.54 (4), p.193-198 |
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| container_title | Journal of human genetics |
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| creator | Collette, Jeremy C Chen, Xiao-Ning Mills, Debra L Galaburda, Albert M Reiss, Allan L Bellugi, Ursula Korenberg, Julie R |
| description | William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24–28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development. |
| doi_str_mv | 10.1038/jhg.2009.5 |
| format | Article |
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Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. 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Interspecies comparisons suggest GTF2I may play a key role in normal brain development.</description><subject>Adult</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Case-Control Studies</subject><subject>Chromosome 7</subject><subject>Chromosome deletion</subject><subject>Chromosomes, Human - genetics</subject><subject>Cognition</subject><subject>Female</subject><subject>Gender</subject><subject>Gene Expression</subject><subject>Gene Expression Regulation - genetics</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Molecular Medicine</subject><subject>original-article</subject><subject>Parents</subject><subject>Polymerase chain reaction</subject><subject>Transcription</subject><subject>Williams Syndrome - genetics</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</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>eNp9kVuLFDEQhYMo7rr64g-QBsEFpcekMumLD4Is3mDBF0XfQi6V3gzpZEx6xP33ZpzBVREhkErOx6lKDiEPGV0xyofnm6tpBZSOK3GLnLI1Fy1w-HL7Z71uBevYCblXyoZSyqGHu-SEjTDA0MMpUZ99CF7N56Up19HmNOOLZsKIDX7fZizFp9j40mQMakHbLKnZqoxxUaFJ2U8-NiraKk8VrHcmpWx9rGwt45JTuE_uOBUKPjjuZ-TTm9cfL961lx_evr94ddkaAbC0GoQeHXeM2c502taTtUo7NmqNrjMOtXPCWc3HwVIAZPtleM8H0fej4Wfk5cF3u9MzWlNnzCrIbfazytcyKS__VKK_klP6JrkQ3Uh5NTg_GuT0dYdlkbMvBkNQEdOuyJ5zOvJuYJV88l8SGGUDsKGCj_8CN2mX6z9VZg1AgUEnKvX0QJmcSsnofg3NqNwnLGvCcp-w3MOPfn_mDXqMtALPDkCpUpww3_T8h90Pk3iy2g</recordid><startdate>20090401</startdate><enddate>20090401</enddate><creator>Collette, Jeremy C</creator><creator>Chen, Xiao-Ning</creator><creator>Mills, Debra L</creator><creator>Galaburda, Albert M</creator><creator>Reiss, Allan L</creator><creator>Bellugi, Ursula</creator><creator>Korenberg, Julie R</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>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20090401</creationdate><title>William's syndrome: gene expression is related to parental origin and regional coordinate control</title><author>Collette, Jeremy C ; Chen, Xiao-Ning ; Mills, Debra L ; Galaburda, Albert M ; Reiss, Allan L ; Bellugi, Ursula ; Korenberg, Julie R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c522t-b25b9f3f11d6c6bd5b9ddabf19bbef6cfebff5fdb398d022e12e12c37385779c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Case-Control Studies</topic><topic>Chromosome 7</topic><topic>Chromosome deletion</topic><topic>Chromosomes, Human - genetics</topic><topic>Cognition</topic><topic>Female</topic><topic>Gender</topic><topic>Gene Expression</topic><topic>Gene Expression Regulation - genetics</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Molecular Medicine</topic><topic>original-article</topic><topic>Parents</topic><topic>Polymerase chain reaction</topic><topic>Transcription</topic><topic>Williams Syndrome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Collette, Jeremy C</creatorcontrib><creatorcontrib>Chen, Xiao-Ning</creatorcontrib><creatorcontrib>Mills, Debra L</creatorcontrib><creatorcontrib>Galaburda, Albert M</creatorcontrib><creatorcontrib>Reiss, Allan L</creatorcontrib><creatorcontrib>Bellugi, Ursula</creatorcontrib><creatorcontrib>Korenberg, Julie R</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Collette, Jeremy C</au><au>Chen, Xiao-Ning</au><au>Mills, Debra L</au><au>Galaburda, Albert M</au><au>Reiss, Allan L</au><au>Bellugi, Ursula</au><au>Korenberg, Julie R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>William's syndrome: gene expression is related to parental origin and regional coordinate control</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2009-04-01</date><risdate>2009</risdate><volume>54</volume><issue>4</issue><spage>193</spage><epage>198</epage><pages>193-198</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24–28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>19282872</pmid><doi>10.1038/jhg.2009.5</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Biomedical and Life Sciences Biomedicine Case-Control Studies Chromosome 7 Chromosome deletion Chromosomes, Human - genetics Cognition Female Gender Gene Expression Gene Expression Regulation - genetics Gene Function Gene Therapy Human Genetics Humans Male Middle Aged Molecular Medicine original-article Parents Polymerase chain reaction Transcription Williams Syndrome - genetics |
| title | William's syndrome: gene expression is related to parental origin and regional coordinate control |
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