Disease relevance of Gtf2i

• A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region [1].

High impact information on Gtf2i

• Both the initiator binding protein, TFII-I, and SP1 have been found to interact physically with components of the TFIID complex [2].
• The Spin peptide, when complexed with Dd, also activated the T cell [3].
• These data suggest that Bright functions as a three-component protein complex in the immunoglobulin locus and tie together previous data indicating important roles for Btk and TFII-I in B lymphocytes [4].
• Similarly, Xenopus embryos with endogenous TFII-I expression downregulated by injection of TFII-I-specific antisense oligonucleotides exhibit decreased Gsc expression [5].
• We also identify a DICE-interacting factor: a TFII-I-related protein known as BEN (also termed Mus-TRD1 and WBSCR11) [6].

Biological context of Gtf2i

• Gtf2i is composed of 34 exons spanning about 77 kb [7].
• 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 [1].
• The gene organization of Gtf2ird1, Gtf2i, and Ncf1 is conserved in mice and humans, although the intronic regions are more compact in the mouse genome [7].
• We have isolated and analyzed the sequence of bacterial artificial chromosome clones from the syntenic mouse chromosome 5 region that contains Gtf2ird1 and Gtf2i as well as a neighboring gene, Ncf1 [7].
• TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype [8].

Anatomical context of Gtf2i

• Using RT-PCR, we detected Gtf2i and Gtf2ird1 mRNA transcripts in unfertilized oocytes, which indicates the maternal expression of these genes [9].
• Moreover, inhibition of TFII-I function in a B-cell line resulted in decreased heavy-chain transcript levels [4].

Other interactions of Gtf2i

• Ncf1, located downstream of Gtf2i, consists of 11 exons that extend over 8 kb [7].

Analytical, diagnostic and therapeutic context of Gtf2i

• Gtf2i transcript is detectable in ES cells by RT-PCR and on Northern blots of tissues from 7-dpc embryos [1].
• Sequence analysis of the proximal promoter region revealed several potential regulatory elements; these include the recognition elements of Sp1, Nkx, CP2, E2A, SIF (SIS-inducible factor), TFII-I and cAMP-responsive element (CRE), but no TATA sequences [10].

References