Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development
Abstract
The gene GTF2IRD1 is localized within the critical region on chromosome 7 that is deleted in Williams syndrome patients. Genotype-phenotype comparisons of patients carrying variable deletions within this region have implicated GTF2IRD1 and a closely related homolog, GTF2I, as prime candidates for the causation of the principal symptoms of Williams syndrome. We have generated mice with an nls-LacZ knockin mutation of the Gtf2ird1 allele to study its functional role and examine its expression profile. In adults, expression is most prominent in neurons of the central and peripheral nervous system, the retina of the eye, the olfactory epithelium, the spiral ganglion of the cochlea, brown fat adipocytes and to a lesser degree myocytes of the heart and smooth muscle. During development, a dynamic pattern of expression is found predominantly in musculoskeletal tissues, the pituitary, craniofacial tissues, the eyes and tooth buds. Expression of Gtf2ird1 in these tissues correlates with the manifestation of some of the clinical features of Williams syndrome.
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A targeted knockout of Gtf2ird1 produced by others failed to find craniofacial dysmorphology or dental abnormalities.
“A targeted knockout of Gtf2ird1, produced by others, failed to find craniofacial dysmorphology or dental abnormalities [44].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [44]
Cites
Church, G. M., & Gilbert, W. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.7.1991 · Cited by 8,213 · see citing works
A short amino acid sequence able to specify nuclear location
Kalderon, D., Roberts, B., Richardson, W. D., & Smith, A. E. (1984) · Cell · doi:10.1016/0092-8674(84)90457-4 · Cited by 2,511 · see citing works
Schwenk, F., Baron, U., & Rajewsky, K. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.24.5080 · Cited by 1,289 · see citing works
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
Curran, M. (1993) · Cell · doi:10.1016/0092-8674(93)90168-p · Cited by 426 · see citing works
Meyer-Lindenberg, A., Mervis, C. B., & Faith Berman, K. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1906 · Cited by 411 · see citing works
Structure and innervation of the cochlea
Raphael, Y., & Altschuler, R. A. (2003) · Brain Research Bulletin · doi:10.1016/s0361-9230(03)00047-9 · Cited by 321 · see citing works
Williams-Beuren syndrome:genes and mechanisms
Francke, U. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1947 · Cited by 238 · see citing works
GTF2IRD1 in Craniofacial Development of Humans and Mice
Tassabehji, M., Hammond, P., Karmiloff‐Smith, A., Thompson, P. D., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A. K., et al. (2005) · Science · doi:10.1126/science.1116142 · Cited by 198 · see citing works
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations
Tassabehji, M. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg299 · Cited by 188 · see citing works
Elastin: mutational spectrum in supravalvular aortic stenosis
Metcalfe, K., Rucka, A. K., Smoot, L. B., Hofstadler, G., Tuzler, G., McKeown, P., Siu, V. M., Rauch, A. M., Dean, J., Dennis, N. R., et al. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200564 · Cited by 176 · see citing works
Hirota, H., Matsuoka, R., Chen, X.-N., Salandanan, L. S., Lincoln, A., Rose, F. E., Sunahara, M., Osawa, M., Bellugi, U., & Korenberg, J. R. (2003) · Genetics in Medicine · doi:10.1097/01.gim.0000076975.10224.67 · Cited by 123 · see citing works
Biochemistry and biology of the inducible multifunctional transcription factor TFII-I
Roy, A. L. (2001) · Gene · doi:10.1016/s0378-1119(01)00625-4 · Cited by 117 · see citing works
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome
Karmiloff‐Smith, A., Grant, J., Ewing, S., Carette, M. J. M., Metcalfe, K., Donnai, D., Read, A., & Tassabehji, M. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.2.136 · Cited by 96 · see citing works
Identification of a Novel Slow-Muscle-Fiber Enhancer Binding Protein, MusTRD1
O’Mahoney, J. V., Guven, K. L., Lin, J., Joya, J. E., Robinson, C. S., Wade, R., & Hardeman, E. C. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.11.6641 · Cited by 77 · see citing works
Self-citationThe mammalian pituitary intermediate lobe: an update on innervation and regulation
Saland, L. C. (2001) · Brain Research Bulletin · doi:10.1016/s0361-9230(01)00471-3 · Cited by 69 · see citing works
Bayarsaihan, D., & Ruddle, F. H. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.13.7342 · Cited by 69 · see citing works
Molecular Dissection of DNA Sequences and Factors Involved in Slow Muscle-Specific Transcription
Calvo, S., Vullhorst, D., Venepally, P., Cheng, J., Karavanova, I. D., & Buonanno, A. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.24.8490-8503.2001 · Cited by 57 · see citing works
Tipney, H., Hinsley, T. A., Brass, A., Metcalfe, K., Donnai, D., & Tassabehji, M. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201174 · Cited by 51 · see citing works
Williams-Beuren Syndrome: A Model of Recurrent Genomic Mutation
Pérez Jurado, L. A. (2003) · Hormone Research in Paediatrics · doi:10.1159/000067836 · Cited by 49 · see citing works
Durkin, M. E., Keck-Waggoner, C. L., Popescu, N. C., & Thorgeirsson, S. S. (2001) · Genomics · doi:10.1006/geno.2001.6507 · Cited by 47 · see citing works
Synaptic dynamics mediate sensitivity to motion independent of stimulus details
Luksch, H., Khanbabaie, R., & Weßel, R. (2004) · Nature Neuroscience · doi:10.1038/nn1204 · Cited by 44 · see citing works
Comparison of TFII‐I gene family members deleted in Williams‐Beuren syndrome
Hinsley, T. A., Cunliffe, P., Tipney, H., Brass, A., & Tassabehji, M. (2004) · Protein Science · doi:10.1110/ps.04747604 · Cited by 43 · see citing works
hMusTRD1α1 Represses MEF2 Activation of the Troponin I Slow Enhancer
Polly, P., Haddadi, L. M., Issa, L. L., Subramaniam, N., Palmer, S. J., Tay, E. S. E., & Hardeman, E. C. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m212814200 · Cited by 40 · see citing works
Self-citationBayarsaihan, D., Dunai, J., Greally, J. M., Kawasaki, K., Sumiyama, K., Enkhmandakh, B., Shimizu, N., & Ruddle, F. H. (2002) · Genomics · doi:10.1006/geno.2001.6674 · Cited by 39 · see citing works
Makeyev, A. V., Erdenechimeg, L., Mungunsukh, O., Roth, J. J., Enkhmandakh, B., Ruddle, F. H., & Bayarsaihan, D. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404150101 · Cited by 32 · see citing works
Multiple GTF2I-like Repeats of General Transcription Factor 3 Exhibit DNA Binding Properties
Vullhorst, D., & Buonanno, A. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m500593200 · Cited by 28 · see citing works
Villena, J. A., Carmona, M. C., de la Concepción, M. L. R., Rossmeisl, M., Viñas, O., Mampel, T., Iglesias, R., Giralt, M., & Villarroya, F. (2002) · Cellular and Molecular Life Sciences · doi:10.1007/pl00012516 · Cited by 28 · see citing works
Bayarsaihan, D., Bitchevaia, N., Enkhmandakh, B., et al. (2003) · Gene Expression Patterns · doi:10.1016/s1567-133x(03)00118-2 · Cited by 28 · see citing works
Vullhorst, D., & Buonanno, A. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m209361200 · Cited by 26 · see citing works
MusTRD can regulate postnatal fiber-specific expression
Issa, L. L., Palmer, S. J., Guven, K. L., Santucci, N., Hodgson, V. R. M., Popovic, K., Joya, J. E., & Hardeman, E. C. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.01.019 · Cited by 22 · see citing works
Self-citationRegulation of alternative splicing of Gtf2ird1 and its impact on slow muscle promoter activity
Tay, E. S. E., Guven, K. L., Subramaniam, N., et al. (2003) · Biochemical Journal · doi:10.1042/bj20030189 · Cited by 16 · see citing works
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Ashe, A., Morgan, D. K., Whitelaw, N. C., Bruxner, T. J., Vickaryous, N. K., Cox, L. L., Butterfield, N. C., Wicking, C., Blewitt, M. E., Wilkins, S. J., et al. (2008) · Genome Biology · doi:10.1186/gb-2008-9-12-r182 · Cited by 117 · see citing works
Proulx, É., Young, E. J., Osborne, L. R., & Lambe, E. K. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9044-5 · Cited by 35 · see citing works
- Authors
- Palmer, S. J., Tay, E. S. E., Santucci, N., Cuc Bach, T. T., Hook, J., Lemckert, F. A., Jamieson, R. V., Gunnning, P. W., & Hardeman, E. C.
- Affiliations
- Children's Medical Research Institute (AU)
- The University of Sydney (AU)
- Corresponding author
- Palmer, Stephen J.
- Venue
- Gene Expression Patterns
- Publisher
- Elsevier BV
- Published
- 2007-02
- Volume
- 7
- Issue
- 4
- Pages
- 396-404
- ISSN
- 1567-133X (ISSN-L)
- OpenAlex
- W2048326473
- Cited by
- 49
- References
- 31
- Citations by year
- 2026: 1 · 2024: 5 · 2022: 2 · 2020: 1 · 2019: 3 · 2018: 1 · 2016: 2 · 2015: 2 · 2014: 3 · 2013: 3 · 2012: 5
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gene Expression Patterns (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- GTF2IRD1, Williams syndrome, GTF2I, chromosome 7 deletion, genotype-phenotype correlation, olfactory epithelium, spiral ganglion, brown adipocytes, musculoskeletal development, pituitary gland, craniofacial development, tooth germ, developmental gene regulation
- MeSH terms
- Animals, Animals, Newborn, Brain, Fetus, Humans, Mice, Inbred CBA, Mice, Inbred C57BL, Muscle Proteins, Muscles, Nerve Tissue, Nuclear Proteins, Organ Specificity, Phenotype, Tissue Distribution, Trans-Activators, Williams Syndrome, Gene Expression Profiling, Organogenesis, Mice
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