{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T13:52:15Z","timestamp":1754488335927},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T00:00:00Z","timestamp":1149120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2006,7,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An increased incidence of psychiatric and structural brain abnormalities in individuals with Klinefelter syndrome (KS, 47 XXY) could be due to the presence of extra copies of X\u2010Y homologous genes that escape X inactivation. Of particular interest are the two brain\u2010expressed genes Protocadherin11XY (<jats:italic>PCDH11XY<\/jats:italic>) and the Synaptobrevin\u2010like gene (<jats:italic>SYBL1<\/jats:italic>) which have been duplicated from the X chromosome to the Y chromosome to give X\u2010Y homologous gene pairs that are specific to modern humans. We examined the DNA of KS individuals reported recently by DeLisi et al.<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib11\">2005<\/jats:ext-link>and determined the parental origin of the X alleles, the degree of skewed X inactivation and investigated the CpG island methylation status of<jats:italic>PCDH11XY<\/jats:italic>and<jats:italic>SYBL1<\/jats:italic>by bisulphite sequencing and quantification of methylated HpaII sites. We used a novel method for quantification of unmethylated CpGs with the restriction enzyme McrBC which cuts methylated but not unmethylated CpGs. The results showed that KS individuals have two methylated and one unmethylated<jats:italic>SYBL1<\/jats:italic>allele whereas<jats:italic>PCDH11XY<\/jats:italic>is unmethylated and escapes X inactivation on the extra X chromosome. Overexpression of<jats:italic>PCDH11XY<\/jats:italic>in KS is probable and variable escape from inactivation of this<jats:italic>Homo sapiens<\/jats:italic>\u2010specific gene could account for some abnormalities in KS. The origin of the parental alleles or their preferential X inactivation was not associated with psychotic symptoms. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30339","type":"journal-article","created":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T20:13:52Z","timestamp":1149192832000},"page":"544-548","source":"Crossref","is-referenced-by-count":25,"title":["Methylation of two<i>Homo sapiens<\/i>\u2010specific X\u2010Y homologous genes in Klinefelter's syndrome (XXY)"],"prefix":"10.1002","volume":"141B","author":[{"given":"Norman L.J.","family":"Ross","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rekha","family":"Wadekar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Dagnall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Close","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn E.","family":"DeLisi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy J.","family":"Crow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,6]]},"reference":[{"key":"e_1_2_3_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-6-48"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010177"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-003-3034-9"},{"key":"e_1_2_3_6_1","first-page":"393","article-title":"The case for an X\u2010Y homologous determinant of cerebral asymmetry","volume":"67","author":"Crow TJ","year":"1994","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_3_7_1","first-page":"1237","article-title":"Why cerebral asymmetry is the key to the origin of Homo sapiens; how to find the gene or eliminate the theory","volume":"11","author":"Crow TJ","year":"1998","journal-title":"Current Psychology of Cognition\/Cahiers de Psychologie Cognitiv"},{"key":"e_1_2_3_8_1","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/oso\/9780199250653.003.0005","volume-title":"The Transition to language","author":"Crow TJ","year":"2002"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.181.4.295"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/13576500342000374"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/schbul\/20.3.495"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30163"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1520-6408(1998)23:3<215::AID-DVG7>3.0.CO;2-X"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010101)98:1<25::AID-AJMG1015>3.0.CO;2-X"},{"issue":"20","key":"e_1_2_3_15_1","first-page":"1","article-title":"Inactivation status of PCDH11X: sexual dimorphisms in gene expression levels in brain","author":"Lopes AM","year":"2006","journal-title":"Hum Genet"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.25.3191"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10115"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.21.8252"},{"key":"e_1_2_3_19_1","first-page":"102","article-title":"Anomalous asymmetry in Turner's and Klinefelter's syndromes\u2010Further evidence for X\u2010Y linkage of the cerebral dominance gene","volume":"130","author":"Rezaie R","year":"2004","journal-title":"Am J Med Genet Part B Neuropsychiatr Genet"},{"key":"e_1_2_3_20_1","first-page":"169","article-title":"MMPI profiles of males with abnormal sex chromosome complements","volume":"15","author":"Rosen M","year":"1970","journal-title":"J Ment Defic Res"},{"key":"e_1_2_3_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041444-200306000-00011"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000612)96:3<317::AID-AJMG17>3.0.CO;2-R"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.1.77"},{"key":"e_1_2_3_24_1","first-page":"280","article-title":"Klinefelter Syndrome (47 XXY): Biological\u2010Genetic vulnerability to schizophrenia and impairments in social\u2010emotional processing","volume":"31","author":"Van Rijn S","year":"2005","journal-title":"Schizophr Bull"},{"key":"e_1_2_3_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.66.5.628"},{"key":"e_1_2_3_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3223(02)01484-1"},{"key":"e_1_2_3_27_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1351604"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.30339","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.30339","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T16:49:34Z","timestamp":1707065374000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.30339"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,7,5]]}},"alternative-id":["10.1002\/ajmg.b.30339"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.30339","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6]]}}}