Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

Palmer, Steve; Tay, Enoch; Santucci, Nicole; Bach, Thi Thu Cuc; Hook, Jeff; Lemckert, Frances A.; Jamieson, Robyn V; Gunnning, Peter W.; Hardeman, Edna C.

doi:10.1016/j.modgep.2006.11.008

Cited by 44 publications

(42 citation statements)

References 30 publications

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“…22 In addition, GTF2IRD1 regulates the goosecoid gene involved in craniofacial morphogenesis 23 as well, as mice haploinsuficient for a mouse model carrying a deletion between Clip2 and Gtf2ird1 show hypoplasia of the mandible and other craniofacial defects resembling the defects and dental problems of WBS individuals. 24 However, another targeted knockout of Gtf2ird1 failed to find craniofacial dysmorphology, 25 suggesting RHBDD2 HAG GTF2IRD1 GTF2I HIP1 CALN1 CCL26 CCL24 CCL24 POR TMPIT STYXL1 MDH2 HSPB1 YW SRCRB4D ZP3 MAGI2 BAZ1B BCL7B TBL2 WBSCR14 WBSCR24 WBSCR18 WBSCR22 WBSCR26 WBSCR21 WBSCR27 WBSCR28 WBSCR1 WBSCR5 WBSCR23 STX1A CLDN4 CLDN3 ELN LIMK1 RFC2 CLIP2 TRIM50 FKBP6 Atypical patients in Williams Beuren syndrome C Fusco et al that this phenotype may be influenced by different genetic background of diverse strains. BAZ1B was implicated in craniofacial development through a mouse model generated by random chemical mutagenesis resulting in the heterozygous L733R change in a highly conserved amino acid.…”

Section: Patient Wbs166mentioning

confidence: 99%

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

et al. 2013

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syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry B3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of B1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region.

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Section: Patient Wbs166mentioning

confidence: 99%

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

et al. 2013

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“…Functional studies on GTF2IRD1 in different species have shown that it binds to a number of regulatory elements upstream of genes, which are involved in tissue development and differentiation [180]. Expression of Gtf2ird1 during mouse development is found predominantly in musculoskeletal tissues, the pituitary, craniofacial tissues, the eyes and tooth buds [181]. In addition, the TFII-I gene family shows high expression during murine odontogenesis, expression of Gtf2ird1 and Gtf2ird2 was observed in preameloblasts and preodontoblasts.…”

Section: The Single Copy Gene Part Of the Wbs Regionmentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

213

161

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. The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5–1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (~1.2 Mb) flanked by repetitive sequences – Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.

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“…GTF2I and GTF2IRD1 are localized in the 7q11.23 chromosomal region, deletion of which causes the Williams syndrome, a complex developmental disorder characterized by cardiac, craniofacial, behavioral, and cognitive anomalies (8)(9)(10)(11). Haploinsufficiency in GTF2I and GTF2IRD1 may be responsible for some of these manifestations (9).…”

Section: Gtf2i ͉ Williams-beuren Syndromementioning

confidence: 99%

Identification of the TFII-I family target genes in the vertebrate genome

Chimge

Makeyev

Ruddle

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

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GTF2I and GTF2IRD1 encode members of the TFII-I transcription factor family and are prime candidates in the Williams syndrome, a complex neurodevelopmental disorder. Our previous expression microarray studies implicated TFII-I proteins in the regulation of a number of genes critical in various aspects of cell physiology. Here, we combined bioinformatics and microarray results to identify TFII-I downstream targets in the vertebrate genome. These results were validated by chromatin immunoprecipitation and siRNA analysis. The collected evidence revealed the complexity of TFII-Imediated processes that involve distinct regulatory networks. Altogether, these results lead to a better understanding of specific molecular events, some of which may be responsible for the Williams syndrome phenotype.GTF2I ͉ Williams-Beuren syndrome

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Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

Cited by 44 publications

References 30 publications

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

The genomic basis of the Williams – Beuren syndrome

Identification of the TFII-I family target genes in the vertebrate genome

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