{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T06:01:38Z","timestamp":1791093698489,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,12,3]],"date-time":"2010-12-03T00:00:00Z","timestamp":1291334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Autism Research"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Identifying genes involved in social behavior is important for autism research. Williams\u2013Beuren syndrome (WBS) is a developmental syndrome with unique neurocognitive features, including low IQ, deficits in visuospatial and visual\u2010motor abilities, hypersensitivity to sounds, hypersociability, and increased general anxiety. The syndrome is caused by a recurrent hemizygous deletion of the 7q11.23 region, containing about 28 genes. One of genes in the region, <jats:italic>GTF2I<\/jats:italic>, has been implicated in the hypersociability and visuospatial deficits of WBS based on genotype\u2013phenotype correlation studies of patients with atypical deletions. In order to clarify the involvement of <jats:italic>GTF2I<\/jats:italic> in neurocognitive function, especially social behavior, we have developed and characterized <jats:italic>Gtf2i<\/jats:italic>\u2010deficient mice. We found that homozygous deletion of <jats:italic>Gtf2i<\/jats:italic> causes lethality during embryonic development with neural tube closure defects and exencephaly, consistent with other reports. <jats:italic>Gtf2i<\/jats:italic> heterozygous animals show no gross changes in brain structure or development. Furthermore, heterozygous animals show no alterations in learning and memory, including spatial memory as assessed by the Morris water maze, but show alterations in the recognition of novel objects. Interestingly, they show increased social interaction with unfamiliar mice and do not show typical social habituation processes, reminiscent of the hypersociability observed in WBS patients. The mice do not appear to show increased anxiety, supporting a specific effect of <jats:italic>Gtf2i<\/jats:italic> on defined domains of the WBS phenotype. These data indicate that <jats:italic>Gtf2i<\/jats:italic> is involved in several aspects of embryonic development and the development of social neurocircuitry and that <jats:italic>GTF2I<\/jats:italic> haploinsufficiency could be a contributor to the hypersociability in WBS patients.<\/jats:p>","DOI":"10.1002\/aur.169","type":"journal-article","created":{"date-parts":[[2010,12,3]],"date-time":"2010-12-03T16:36:20Z","timestamp":1291394180000},"page":"28-39","source":"Crossref","is-referenced-by-count":102,"title":["Haploinsufficiency of <i>Gtf2i<\/i>, a gene deleted in Williams Syndrome, leads to increases in social interactions"],"prefix":"10.1002","volume":"4","author":[{"given":"Takeshi","family":"Sakurai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan P.","family":"Dorr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagahide","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Alison","family":"McInnes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory A.","family":"Elder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph D.","family":"Buxbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,12,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071712"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0803051105"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2643"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32652"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.044537"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2008.03.036"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0811531106"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0993-11"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.108"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010292"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C109.063115"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.200900003"},{"key":"e_1_2_6_14_1","article-title":"Molecular Basis of Williams\u2010Beuren Syndrome: TFII\u2010I Regulated Targets Involved in the Craniofacial Development","author":"Makeyev A.","year":"2010","journal-title":"The Cleft Palate\u2010craniofacial Journal. Epub ahead of print"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0827-2"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-1848.2004.00076.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30257"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0903074"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900551"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2009.08.042"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1116142"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2006.12.009"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-183X.2007.00343.x"}],"container-title":["Autism Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Faur.169","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/aur.169","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T12:37:55Z","timestamp":1694522275000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/aur.169"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,3]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["10.1002\/aur.169"],"URL":"https:\/\/doi.org\/10.1002\/aur.169","archive":["Portico"],"relation":{},"ISSN":["1939-3792","1939-3806"],"issn-type":[{"value":"1939-3792","type":"print"},{"value":"1939-3806","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,12,3]]}}}