Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype
The critical importance of dosage compensation is underscored by a novel human syndrome (“XY Xq syndrome”) in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic consequ...
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| Veröffentlicht in: | Nature genetics 1994-11, Vol.8 (3), p.243-250 |
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| creator | Lahn, Bruce T Ma, Nancy Breg, W. Roy Stratton, Robert Surti, Urvashi Page, David C |
| description | The critical importance of dosage compensation is underscored by a novel human syndrome (“XY
Xq
syndrome”) in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic consequences. Studies of three unrelated boys with 46,XYq- karyotypes and anomalous phenotypes (severe mental retardation, generalized hypotonia and microcephaly) show the presence of a small portion of distal Xq on the long arm of the Y derivative. Cells from these boys exhibit twice-normal activity of glucose-6-phosphate dehydrogenase, a representative Xq28 gene product. In all three cases, the presence of Xq DMA on a truncated Y chromosome resulted from an aberrant Xq–Yq interchange occurring in the father's germline. |
| doi_str_mv | 10.1038/ng1194-243 |
| format | Article |
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Xq
syndrome”) in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic consequences. Studies of three unrelated boys with 46,XYq- karyotypes and anomalous phenotypes (severe mental retardation, generalized hypotonia and microcephaly) show the presence of a small portion of distal Xq on the long arm of the Y derivative. Cells from these boys exhibit twice-normal activity of glucose-6-phosphate dehydrogenase, a representative Xq28 gene product. In all three cases, the presence of Xq DMA on a truncated Y chromosome resulted from an aberrant Xq–Yq interchange occurring in the father's germline.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng1194-243</identifier><identifier>PMID: 7874166</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Abnormalities, Multiple - genetics ; Adolescent ; Adult ; Agriculture ; Animal Genetics and Genomics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Child ; Child, Preschool ; Chromosome aberrations ; Chromosome Aberrations - genetics ; Chromosome Deletion ; Chromosome Disorders ; Crossing Over, Genetic ; Dosage Compensation, Genetic ; Female ; Gene Expression Regulation ; Gene Function ; glucose-6-phosphate dehydrogenase ; Glucosephosphate Dehydrogenase - biosynthesis ; Human Genetics ; Humans ; Intellectual Disability - genetics ; Male ; man ; Medical genetics ; Medical sciences ; Microcephaly - genetics ; Muscle Hypotonia - genetics ; Phenotype ; Polymerase Chain Reaction ; Seizures - genetics ; Spermatogenesis ; X Chromosome ; X-chromosome inactivation ; Y chromosome ; Y Chromosome - ultrastructure</subject><ispartof>Nature genetics, 1994-11, Vol.8 (3), p.243-250</ispartof><rights>Springer Nature America, Inc. 1994</rights><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c403t-7da1677180ce2d84ffe9e397755ee1a8533429ff7523cb6cc9715d6b53f808013</citedby><cites>FETCH-LOGICAL-c403t-7da1677180ce2d84ffe9e397755ee1a8533429ff7523cb6cc9715d6b53f808013</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/ng1194-243$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng1194-243$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,2725,27922,27923,41486,42555,51317</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3298458$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7874166$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lahn, Bruce T</creatorcontrib><creatorcontrib>Ma, Nancy</creatorcontrib><creatorcontrib>Breg, W. Roy</creatorcontrib><creatorcontrib>Stratton, Robert</creatorcontrib><creatorcontrib>Surti, Urvashi</creatorcontrib><creatorcontrib>Page, David C</creatorcontrib><title>Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>The critical importance of dosage compensation is underscored by a novel human syndrome (“XY
Xq
syndrome”) in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic consequences. Studies of three unrelated boys with 46,XYq- karyotypes and anomalous phenotypes (severe mental retardation, generalized hypotonia and microcephaly) show the presence of a small portion of distal Xq on the long arm of the Y derivative. Cells from these boys exhibit twice-normal activity of glucose-6-phosphate dehydrogenase, a representative Xq28 gene product. In all three cases, the presence of Xq DMA on a truncated Y chromosome resulted from an aberrant Xq–Yq interchange occurring in the father's germline.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome aberrations</subject><subject>Chromosome Aberrations - genetics</subject><subject>Chromosome Deletion</subject><subject>Chromosome Disorders</subject><subject>Crossing Over, Genetic</subject><subject>Dosage Compensation, Genetic</subject><subject>Female</subject><subject>Gene Expression Regulation</subject><subject>Gene Function</subject><subject>glucose-6-phosphate dehydrogenase</subject><subject>Glucosephosphate Dehydrogenase - biosynthesis</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Microcephaly - genetics</subject><subject>Muscle Hypotonia - genetics</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Seizures - genetics</subject><subject>Spermatogenesis</subject><subject>X Chromosome</subject><subject>X-chromosome inactivation</subject><subject>Y chromosome</subject><subject>Y Chromosome - ultrastructure</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkkFP3DAQha2qFdBtL9yRfKg4UEzt2LGdI0K0RULiUqTlFHmdyRLIOlk7ge6_Z2hWywWpJ1ueb54975mQQ8HPBJf2R1gKUSiWKfmBHIhcaSaMsB9xz7Vgiku9Tz6n9MC5UIrbPbJnrFFC6wMyztfsbk2bMED09y4sgUZIYzs0YYmnNI09xNDFlWvpnLVNeISKLiEAhb89kqnpwj8OniBCu8HuwcUKIeyARJ-b4Z4qfTq_WzP66OKmGzY9fCGfatcm-LpdZ-T25-Wfi9_s-ubX1cX5NfP46IGZygltcBTuIausqmsoQBbG5DmAcDaXUmVFXZs8k36hvS-MyCu9yGVtueVCzsjxpNvHbj1CGspVkzy0rQvQjak0KGUKXfwXRK-klWjwjJxMoI9dShHqso_NCucqBS9fwyinMEpkET7aqo6LFVQ7dOs-1r9t6y5519bRBd-kHSazwqrcIvZ9whJWMKFYPnRjDGjc-5fSiQ5uGCPs1N4-iXwB51KqpA</recordid><startdate>19941101</startdate><enddate>19941101</enddate><creator>Lahn, Bruce T</creator><creator>Ma, Nancy</creator><creator>Breg, W. 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Roy ; Stratton, Robert ; Surti, Urvashi ; Page, David C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c403t-7da1677180ce2d84ffe9e397755ee1a8533429ff7523cb6cc9715d6b53f808013</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome aberrations</topic><topic>Chromosome Aberrations - genetics</topic><topic>Chromosome Deletion</topic><topic>Chromosome Disorders</topic><topic>Crossing Over, Genetic</topic><topic>Dosage Compensation, Genetic</topic><topic>Female</topic><topic>Gene Expression Regulation</topic><topic>Gene Function</topic><topic>glucose-6-phosphate dehydrogenase</topic><topic>Glucosephosphate Dehydrogenase - biosynthesis</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Microcephaly - genetics</topic><topic>Muscle Hypotonia - genetics</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>Seizures - genetics</topic><topic>Spermatogenesis</topic><topic>X Chromosome</topic><topic>X-chromosome inactivation</topic><topic>Y chromosome</topic><topic>Y Chromosome - ultrastructure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lahn, Bruce T</creatorcontrib><creatorcontrib>Ma, Nancy</creatorcontrib><creatorcontrib>Breg, W. 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Xq
syndrome”) in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic consequences. Studies of three unrelated boys with 46,XYq- karyotypes and anomalous phenotypes (severe mental retardation, generalized hypotonia and microcephaly) show the presence of a small portion of distal Xq on the long arm of the Y derivative. Cells from these boys exhibit twice-normal activity of glucose-6-phosphate dehydrogenase, a representative Xq28 gene product. In all three cases, the presence of Xq DMA on a truncated Y chromosome resulted from an aberrant Xq–Yq interchange occurring in the father's germline.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>7874166</pmid><doi>10.1038/ng1194-243</doi><tpages>8</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Adolescent Adult Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Child Child, Preschool Chromosome aberrations Chromosome Aberrations - genetics Chromosome Deletion Chromosome Disorders Crossing Over, Genetic Dosage Compensation, Genetic Female Gene Expression Regulation Gene Function glucose-6-phosphate dehydrogenase Glucosephosphate Dehydrogenase - biosynthesis Human Genetics Humans Intellectual Disability - genetics Male man Medical genetics Medical sciences Microcephaly - genetics Muscle Hypotonia - genetics Phenotype Polymerase Chain Reaction Seizures - genetics Spermatogenesis X Chromosome X-chromosome inactivation Y chromosome Y Chromosome - ultrastructure |
| title | Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype |
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