title: A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region.
abstract: We have cloned and characterized Gtf2i, the mouse homolog of human GTF2I (general transcription factor II-I), which encodes BAP-135, a target for Bruton's tyrosine kinase. GTF2I represents the telomeric and functional copy of a duplicated gene flanking the 2-Mb Williams-Beuren syndrome (WBS) common deletion at 7q11.23. GTF2I is deleted in WBS, while a truncated centromeric pseudogene (GTF2IP1) is not deleted. In mouse, there appears to be only a single locus, Gtf2i, which we mapped to mouse chromosome 5 in a region of conserved mouse-human synteny. Gtf2i is 87.7% identical to GTF2I at the nucleotide and 97% at the amino acid level and generates several alternatively spliced transcripts. The gene is widely expressed in adult tissues and equally in all areas of the brain. Gtf2i transcript is detectable in ES cells by RT-PCR and on Northern blots of tissues from 7-dpc embryos. A ubiquitous expression pattern is seen by Northern and tissue in situ hybridization studies of 14-dpc embryos.
authors.affiliation: Howard Hughes Medical Institute, Stanford University Medical Center, California 94305, USA.
authors.forename: Y K
authors.initials: YK
authors.lastname: Wang
authors.forename: L A
authors.initials: LA
authors.lastname: Pérez-Jurado
authors.forename: U
authors.initials: U
authors.lastname: Francke
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D002460:Cell Line; D002874:Chromosome Mapping; D017124:Conserved Sequence; D004622:Embryo, Mammalian; D017353:Gene Deletion; D005786:Gene Expression Regulation; D006801:Humans; D008251:Macaca; D051379:Mice; D008969:Molecular Sequence Data; D009928:Organ Specificity / Q000235:genetics; D010750:Phosphoproteins / Q000096:biosynthesis / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013234:Stem Cells / Q000166:cytology; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics*; D019473:Transcription Factors, TFII; D014158:Transcription, Genetic; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: C104259:GTF2I protein, human; C486330:Gtf2i protein, mouse; D010750:Phosphoproteins; D014157:Transcription Factors; D019473:Transcription Factors, TFII