{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T06:09:42Z","timestamp":1790921382864,"version":"4.1.0"},"reference-count":29,"publisher":"National Academy of Sciences","issue":"30","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2004,7,27]]},"abstract":"<jats:p>\n                    Williams\u2013Beuren syndrome (also known as Williams syndrome) is caused by a deletion of a 1.55- to 1.84-megabase region from chromosome band 7q11.23.\n                    <jats:italic>GTF2IRD1<\/jats:italic>\n                    and\n                    <jats:italic>GTF2I<\/jats:italic>\n                    , located within this critical region, encode proteins of the TFII-I family with multiple helix\u2013loop\u2013helix domains known as I repeats. In the present work, we characterize a third member,\n                    <jats:italic>GTF2IRD2<\/jats:italic>\n                    , which has sequence and structural similarity to the\n                    <jats:italic>GTF2I<\/jats:italic>\n                    and\n                    <jats:italic>GTF2IRD1<\/jats:italic>\n                    paralogs. The ORF encodes a protein with several features characteristic of regulatory factors, including two I repeats, two leucine zippers, and a single Cys-2\/His-2 zinc finger. The genomic organization of human, baboon, rat, and mouse genes is well conserved. Our exon-by-exon comparison has revealed that\n                    <jats:italic>GTF2IRD2<\/jats:italic>\n                    is more closely related to\n                    <jats:italic>GTF2I<\/jats:italic>\n                    than to\n                    <jats:italic>GTF2IRD1<\/jats:italic>\n                    and apparently is derived from the\n                    <jats:italic>GTF2I<\/jats:italic>\n                    sequence. The comparison of\n                    <jats:italic>GTF2I<\/jats:italic>\n                    and\n                    <jats:italic>GTF2IRD2<\/jats:italic>\n                    genes revealed two distinct regions of homology, indicating that the helix\u2013loop\u2013helix domain structure of the\n                    <jats:italic>GTF2IRD2<\/jats:italic>\n                    gene has been generated by two independent genomic duplications. We speculate that\n                    <jats:italic>GTF2I<\/jats:italic>\n                    is derived from\n                    <jats:italic>GTF2IRD1<\/jats:italic>\n                    as a result of local duplication and the further evolution of its structure was associated with its functional specialization. Comparison of genomic sequences surrounding\n                    <jats:italic>GTF2IRD2<\/jats:italic>\n                    genes in mice and humans allows refinement of the centromeric breakpoint position of the primate-specific inversion within the Williams\u2013Beuren syndrome critical region.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0404150101","type":"journal-article","created":{"date-parts":[[2004,7,8]],"date-time":"2004-07-08T20:26:52Z","timestamp":1089318412000},"page":"11052-11057","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":26,"title":["GTF2IRD2 is located in the Williams\u2013Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix\u2013loop\u2013helix repeats"],"prefix":"10.1073","volume":"101","author":[{"given":"Aleksandr V.","family":"Makeyev","sequence":"first","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, Yale University, 266 Whitney Avenue, New Haven, CT 06520; Department of Genetics and Development, Columbia University, 701 West 168th Street, NY 10032; Department of Genetics and General Biology, University of Salzburg, Hellbrunnerstrasse 34, 5020 Salzburg, Austria; and Department of Molecular, Cellular, and Craniofacial Biology, Birth Defect Center, University of Louisville, 501 South Preston Street, Louisville, KY 40202"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lkhamsuren","family":"Erdenechimeg","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, Yale University, 266 Whitney Avenue, New Haven, CT 06520; Department of Genetics and Development, Columbia University, 701 West 168th Street, NY 10032; Department of Genetics and General Biology, University of Salzburg, Hellbrunnerstrasse 34, 5020 Salzburg, Austria; and Department of Molecular, Cellular, and Craniofacial Biology, Birth Defect Center, University of Louisville, 501 South Preston Street, Louisville, KY 40202"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ognoon","family":"Mungunsukh","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, Yale University, 266 Whitney Avenue, New Haven, CT 06520; Department of Genetics and Development, Columbia University, 701 West 168th Street, NY 10032; Department of Genetics and General Biology, University of Salzburg, Hellbrunnerstrasse 34, 5020 Salzburg, Austria; and Department of Molecular, Cellular, and Craniofacial Biology, Birth Defect Center, University of Louisville, 501 South Preston Street, Louisville, KY 40202"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jutta J.","family":"Roth","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, Yale University, 266 Whitney Avenue, New Haven, CT 06520; Department of Genetics and Development, Columbia University, 701 West 168th Street, NY 10032; Department of Genetics and General Biology, University of Salzburg, Hellbrunnerstrasse 34, 5020 Salzburg, Austria; and Department of Molecular, Cellular, and Craniofacial Biology, Birth Defect Center, University of Louisville, 501 South Preston Street, Louisville, KY 40202"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Badam","family":"Enkhmandakh","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, Yale University, 266 Whitney Avenue, New Haven, CT 06520; Department of Genetics and Development, Columbia University, 701 West 168th Street, NY 10032; Department of Genetics and General Biology, University of Salzburg, Hellbrunnerstrasse 34, 5020 Salzburg, Austria; and Department of Molecular, Cellular, and Craniofacial Biology, Birth Defect Center, University of Louisville, 501 South Preston Street, Louisville, KY 40202"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank H.","family":"Ruddle","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, Yale University, 266 Whitney Avenue, New Haven, CT 06520; Department of Genetics and Development, Columbia University, 701 West 168th Street, NY 10032; Department of Genetics and General Biology, University of Salzburg, Hellbrunnerstrasse 34, 5020 Salzburg, Austria; and Department of Molecular, Cellular, and Craniofacial Biology, Birth Defect Center, University of Louisville, 501 South Preston Street, Louisville, KY 40202"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dashzeveg","family":"Bayarsaihan","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, Yale University, 266 Whitney Avenue, New Haven, CT 06520; Department of Genetics and Development, Columbia University, 701 West 168th Street, NY 10032; Department of Genetics and General Biology, University of Salzburg, Hellbrunnerstrasse 34, 5020 Salzburg, Austria; and Department of Molecular, Cellular, and Craniofacial Biology, Birth Defect Center, University of Louisville, 501 South Preston Street, Louisville, KY 40202"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2004,7,8]]},"reference":[{"key":"e_1_3_2_1_2","first-page":"106","volume":"59","year":"2003","unstructured":"Perez Jurado, L. 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