Williams Syndrome: Difference between revisions
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* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''<ref><pubmed>20007321</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076] | [http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref> "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities. | * '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''<ref><pubmed>20007321</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076] | [http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref> "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities. | ||
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Revision as of 18:26, 29 September 2014
Embryology - 18 Apr 2024 Expand to Translate |
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Introduction
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).
- Links: 2011 Student Project
Some Recent Findings
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More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Williams Syndrome <pubmed limit=5>Williams Syndrome</pubmed> |
General Transcription Factor II-I Repeat Domain-containing Protein 1
GTF2IRD1 Links
- OMIM General Transcription Factor II-I Repeat Domain-containing Protein 1 (GTF2IRD1)
- Mapview GTF2IRD1
- Gene GTF2IRD1
Growth Charts
The following data is from a paper producing a growth reference for British children with Williams syndrome.[4]
Female
- Height chart for females with Williams syndrome
- Weight chart for females with Williams syndrome
- Head circumference chart for females with Williams syndrome
Male
- Height chart for males with Williams syndrome
- Weight chart for males with Williams syndrome
- Head circumference chart for males with Williams syndrome
- Links: Growth Charts
References
- ↑ <pubmed>22792262</pubmed>
- ↑ <pubmed>20007321</pubmed>| PMC2836076 | J Biol Chem
- ↑ <pubmed>20642858</pubmed>| BMC Res Notes
- ↑ <pubmed>17301110</pubmed>| PMC2083767
Reviews
<pubmed>21189808</pubmed>
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Special Issue: Williams Syndrome 15 May 2010
Articles
<pubmed>20425781</pubmed> <pubmed>20824207</pubmed>
Search PubMed
Search Pubmed: Williams Syndrome | GTF2IRD1
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- PubMed Health Williams Syndrome
- OMIM General Transcription Factor II-I Repeat Domain-containing Protein 1 (GTF2IRD1)
- Williams Syndrome Foundation UK
- Williams Syndrome International contact List
Glossary Links
- Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link
Cite this page: Hill, M.A. (2024, April 18) Embryology Williams Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Williams_Syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G