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Atypical patients implicate genes at the telomeric end of this multigene deletion as the main candidates for the pathology of WBS in particular the unequal cognitive profile associated with the condition. We recently identified a gene (<jats:italic>GTF2IRD2<\/jats:italic>) that shares homology with other members of a unique family of transcription factors (TFII\u2010I family), which reside in the critical telomeric region. Using bioinformatics tools this study focuses on the detailed assessment of this gene family, concentrating on their characteristic structural components such as the leucine zipper (LZ) and I\u2010repeat elements, in an attempt to identify features that could aid functional predictions. Phylogenetic analysis identified distinct I\u2010repeat clades shared between family members. Linking functional data to one such clade has implicated them in DNA binding. The identification of PEST, synergy control motifs, and sumoylation sites common to all family members suggest a shared mechanism regulating the stability and transcriptional activity of these factors. In addition, the identification\/isolation of short truncated isoforms for each TFII\u2010I family member implies a mode of self\u2010regulation. The exceptionally high identity shared between GTF2I and GTF2IRD2, suggests that heterodimers as well as homodimers are possible, and indicates overlapping functions between their respective short isoforms. Such cross\u2010reactivity between GTF2I and GTF2IRD2 short isoforms might have been the evolutionary driving force for the 7q11.23 chromosomal rearrangement not present in the syntenic region in mice.<\/jats:p>","DOI":"10.1110\/ps.04747604","type":"journal-article","created":{"date-parts":[[2004,9,23]],"date-time":"2004-09-23T21:33:36Z","timestamp":1095975216000},"page":"2588-2599","source":"Crossref","is-referenced-by-count":39,"title":["Comparison of <i>TFII\u2010I<\/i> gene family members deleted in Williams\u2010Beuren syndrome"],"prefix":"10.1002","volume":"13","author":[{"given":"Timothy A.","family":"Hinsley","sequence":"first","affiliation":[]},{"given":"Pamela","family":"Cunliffe","sequence":"additional","affiliation":[]},{"given":"Hannah J.","family":"Tipney","sequence":"additional","affiliation":[]},{"given":"Andrew","family":"Brass","sequence":"additional","affiliation":[]},{"given":"May","family":"Tassabehji","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2009,1]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(05)80360-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.5.887"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2001.6674"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1162\/089892900561959"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90214-Y"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1542\/peds.61.2.303","article-title":"The Williams elfin facies syndrome: The psychological profile as an aid in syndrome identification","volume":"61","author":"Bennett C.","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.26.6.1235"},{"key":"e_1_2_7_9_1","first-page":"478","article-title":"Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include STX1A and FZD3 genes","volume":"36","author":"Botta A.","year":"1999","journal-title":"J. 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