Wang Y K, Pérez-Jurado L A, Francke U
Howard Hughes Medical Institute, Stanford University Medical Center, California 94305, USA.
Genomics. 1998 Mar 1;48(2):163-70. doi: 10.1006/geno.1997.5182.
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.
我们已经克隆并鉴定了Gtf2i，它是人类GTF2I（通用转录因子II-I）的小鼠同源物，该基因编码BAP-135，即布鲁顿酪氨酸激酶的一个靶点。GTF2I代表了位于7q11.23处2-Mb威廉姆斯-贝伦综合征（WBS）常见缺失侧翼的一个重复基因的端粒和功能拷贝。GTF2I在WBS中缺失，而一个截短的着丝粒假基因（GTF2IP1）未被缺失。在小鼠中，似乎只有一个基因座Gtf2i，我们将其定位到小鼠5号染色体上一个小鼠-人类同源保守区域。Gtf2i在核苷酸水平上与GTF2I的同源性为87.7%，在氨基酸水平上为97%，并产生几种可变剪接转录本。该基因在成年组织中广泛表达，在大脑的所有区域表达水平相同。通过RT-PCR在胚胎干细胞中以及在7天胚龄胚胎组织的Northern印迹上可检测到Gtf2i转录本。在14天胚龄胚胎的Northern印迹和组织原位杂交研究中观察到普遍的表达模式。
