Regular ArticleIntegration of a c-myc Transgene Results in Disruption of the Mouse Gtf2ird1 Gene, the Homologue of the Human GTF2IRD1 Gene Hemizygously Deleted in Williams–Beuren Syndrome☆
References (32)
- et al.
Bridging cognition, the brain, and molecular genetics: Evidence from Williams syndrome
Trends Neurosci.
(1999) - et al.
The murine CYLN2 gene: Genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region
Genomics
(1998) - et al.
TGFα overexpression in transgenic mice induces liver neoplasia and abnormal development of the mammary gland and pancreas
Cell
(1990) Insertional mutation of ‘classical’ and novel genes in transgenic mice
Trends Genet.
(1992)- et al.
Natural history of Williams syndrome: Physical characteristics
J. Pediatr.
(1988) - et al.
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams–Beuren syndrome
Genomics
(1999) - et al.
Inactivation of MyoD in mice leads to up-regulation of the myogenic HLH gene Myf-5 and results in apparently normal muscle development
Cell
(1992) - et al.
Nonrandom cytogenetic alterations in hepatocellular carcinoma from transgenic mice overexpressing c-myc and transforming growth factor-α in the liver
Am. J. Pathol.
(1999) - et al.
Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: The low-copy repeats that flank the Williams–Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s)
Genomics
(2000) - et al.
Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains
Proc. Natl. Acad. Sci. USA
(2000)
Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome
Genome Res.
Williams–Beuren syndrome: Genes and mechanisms
Hum. Mol. Genet.
Identification of GTF2IRD1, a putative transcription factor within the Williams–Beuren syndrome deletion at 7q11.23
Cytogenet. Cell Genet.
A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: Identity to TFII-I
Genes Dev.
Expression and activity of L-Myc in normal mouse development
Mol. Cell. Biol.
Cited by (32)
Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome
2012, Behavioural Brain ResearchCitation Excerpt :These discrepancies can be explained not only by differences in the background strains on which these models were created, but also by the method of transgenic engineering. Specifically: all four Gtf2ird1 models reported were created in a different manner and maintained on different background strains: Gtf2ird1Tg(Alb1-Myc)166.8Sst by insertion of a transgene on the mixed C57BL/CBAJ background [23,72]; Gtf2ird1tm1Lro by homologous recombination on a CD1 background[32,33]; and Gtf2ird1tm1Hrd by targeted insertion on a C57BL/6JArc background ([32,33]. A fourth model (Gtf2ird1Gt(XE465)Byg) with the most severe phenotype was generated by an insertion of a LacZ gene-trap cassette in Gtf2ird1on a C57BL/6 and 129Sv background, which in fact might have also disrupted GTF2I function, explaining the extremely severe phenotypes [30].
Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism
2010, Journal of Biological ChemistryCitation Excerpt :Homozygous null mice from these lines do not have major developmental abnormalities, but show defects in brain function and behavioral alterations (22).5 The random insertion of a c-myc transgene led to the production of another Gtf2ird1 mutant mouse line (Tg(Alb1-Myc)166.8), due to a 40-kb deletion removing exon 1 and the Gtf2ird1 promoter (23). Homozygous null mice of this line have a mild craniofacial abnormality (24) and increased brain ventricle volume (25) but exhaustive behavioral testing was not done.
Recurrent and nonrandom DNA copy number and chromosome alterations in Myc transgenic mouse model for hepatocellular carcinogenesis: implications for human disease
2009, Cancer Genetics and CytogeneticsCitation Excerpt :Therefore, the Myc transgenic mouse carrying the t(5;6) translocation, represents the first knockout of one of the genes present in the WBS critical region. GTF2IRD1 encodes a widely expressed, multifunctional helix–loop–helix transcription factor, which binds to pRb, although its role in carcinogenesis remains elusive [48]. In conclusion, the present results underscore the value of mouse models of HCC for identification of nonrandom and recurrent genomic alterations that are homologous to human and harbor a limited set of genes relevant to hepatocarcinogenesis.
Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome
2007, Neurobiology of DiseaseCitation Excerpt :The orthologous region in the mouse lacks the characteristic duplicated blocks but has the full complement of genes, which is inverted with respect to the human map. The heterozygous GTF2IRD1 mutants (line 166.8) we used harbor a hypomorphic allele of GTF2IRD1 (Durkin et al., 2001), while the heterozygous CYLN2 mutants we used were derived from the null mutant of CLIP-115 (Hoogenraad et al., 2002). Both types of mutants mimic (part of) the genetic deletion in Williams Syndrome in that a suboptimal dosage of the respective gene is present.
Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development
2007, Gene Expression Patterns
- ☆
Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. AF257475–AF257477.
- 1
To whom correspondence should be addressed at Laboratory of Experimental Carcinogenesis, National Cancer Institute, Building 37, Room 3C28, 9000 Rockville Pike, Bethesda, MD 20892. Telephone:(301) 496-5688. Fax: (301) 496-0734. E-mail: [email protected].