Disease relevance of GTF2IRD1

• Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23 [1].
• GTF3 is deleted in patients with classic WS, but not in patients we have studied with partial deletions of the WS critical region who have only supravalvular aortic stenosis [2].
• The haploinsufficiency of MusTRD has been implicated in the myopathic aspect of this disease, which manifests itself in symptoms such as lowered resistance to fatigue, kyphoscoliosis, an abnormal gait and joint contractures [Tassabehji, Carette, Wilmot, Donnai, Read and Metcalfe (1999) Eur. J. Hum. Genet. 7, 737-747] [3].
• PATIENTS AND METHODS: 20 breast cancer patients were randomly assigned to use Thêta-Cream or Bepanthol lotion during radiotherapy [4].
• In this study, we identified four genes (gtf1, gtf2, gtf3, and gtf4) in the genome of Mycobacterium smegmatis [5].

Psychiatry related information on GTF2IRD1

• Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome [6].

High impact information on GTF2IRD1

• We speculate that GTF2I is derived from GTF2IRD1 as a result of local duplication and the further evolution of its structure was associated with its functional specialization [7].
• In the present work, we characterize a third member, GTF2IRD2, which has sequence and structural similarity to the GTF2I and GTF2IRD1 paralogs [7].
• GTF3 is a multidomain nuclear protein related to initiator element-binding transcription factor TF II-I; the genes for both proteins are deleted in persons with Williams-Beuren syndrome, who often manifest muscle weakness [8].
• These results suggest a role for GTF3 as a regulator of slow TnI expression during early stages of muscle development and suggest how it could contribute to Williams-Beuren syndrome [8].
• We report the cloning of a novel human USE B1 binding protein, MusTRD1 (muscle TFII-I repeat domain-containing protein 1), which is expressed predominantly in skeletal muscle [9].

Chemical compound and disease context of GTF2IRD1

• OBJECTIVES: The efficacy and safety of 25-microg 17beta-estradiol vaginal tablets (Vagifem) were assessed and compared with 1.25-mg conjugated equine estrogen vaginal cream (Premarin Vaginal Cream) for the relief of menopausal-derived atrophic vaginitis, resulting from estrogen deficiency [10].
• An Open-label Adrenal Suppression Study of 0.1% Fluocinonide Cream in Pediatric Patients With Atopic Dermatitis [11].
• Contact dermatitis from stearyl alcohol in Metosyn (Fluocinonide) Cream [12].
• A new formulation containing sunscreen (SPF 15) and 1% metronidazole (ROSASOL Cream) in the treatment of rosacea [13].
• This article describes a long-term, multicenter, open-label, 12-month study of once-daily fluocinolone acetonide 0.01%, hydroquinone 4%, tretinoin 0.05% (Tri-Luma Cream, hereinafter called TC [triple combination]) application in the treatment of melasma [14].

Biological context of GTF2IRD1

• A heterozygous deletion of GTF2IRD1 may contribute to the complex WBS phenotype [1].
• Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23 [15].
• Furthermore, both TFII-I and MusTRD1 bind to similar but distinct sequences, which happen to conform with the initiator (Inr) consensus sequence [9].
• Its relationship with the muscle-enhancer-binding protein MusTRD1 further suggests a role in regulating gene expression [16].
• The structural gene, CREAM1, contained 27 exons and spanned more than 150 kb [16].

Anatomical context of GTF2IRD1

• Co-transfection assays in C2C12 cells and Cos-7 cells demonstrate that hMusTRD1alpha1 represses hTnIslow transcription and prevents MEF2C-mediated activation of hTnIslow transcription [17].
• Fifty-four sets of observations were made when 44 infants were fed both cow's milk (Half Cream Cow & Gate) and expressed human milk [18].

Associations of GTF2IRD1 with chemical compounds

• Glutathione S-transferase pull-down assays demonstrate that hMusTRD1alpha1 can interact with both MEF2C and the nuclear receptor co-repressor [17].
• These results indicate that the gtf1 and gtf2 genes are responsible for the early glycosylation steps of GPL biosynthesis and the gtf3 gene is involved in transferring a rhamnose residue not to 6-deoxy-talose but to an O-methyl-rhamnose residue [5].
• After phase II studies, Thêta-Cream, containing CM Glucan, Hydroxyprolisilan C und Matrixyl as active substances, was said to have prophylactic properties of preventing acute radiation side effects in skin tissue [4].
• CONCLUSION: In direct comparison with dexpanthenol-containing lotion, no advantage for Thêta-Cream was found [4].
• Creams based on the formula for Aqueous Cream BP were produced by hand-mixing and mechanical mixing, with and without the inclusion of the preservative phenoxyethanol [19].

Other interactions of GTF2IRD1

• GTF2IRD1 in craniofacial development of humans and mice [20].
• Gel shift analysis shows that hMusTRD1alpha1 can abrogate MEF2C binding to its cognate site in the hTnIslow enhancer [17].
• With Thêta-Cream a trend toward worse skin marks was noted [4].

Analytical, diagnostic and therapeutic context of GTF2IRD1

• Gel retardation assays revealed that full-length GTF3, as well as its carboxy-terminal half, specifically bind the bicoid-like motif of SURE (GTTAATCCG) [8].
• RESULTS: Cream PUVA photochemotherapy induced significant clinical improvement (one patient) or clearance (four patients) of GA in all patients [21].
• CONCLUSIONS: Cream PUVA phototherapy can be highly effective in patients affected by localized forms of GA [21].
• In the Carbopol gel, only about 40% of the nominal concentrations of 8-MOP were found and they decrease significantly at storage at 5 degrees C. We conclude that the Carbopol gel seems to be unsuitable for PUVA therapy, whereas Cold Cream Naturel shows the best results [22].
• It also describes the second product in the 3M Health Care skin care range, Cavilon Durable Barrier Cream [23].

References