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  Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development

Britanova, O., Depew, M. J., Schwark, M., Thomas, B. L., Miletich, I., Sharpe, P., et al. (2006). Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. American Journal of Human Genetics, 79(4), 668-678.

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 Creators:
Britanova, Olga1, Author              
Depew, Michael J., Author
Schwark, Manuela1, 2, Author              
Thomas, Bethan L., Author
Miletich, Isabelle, Author
Sharpe, Paul, Author
Tarabykin, Victor2, Author              
Affiliations:
1Cortical development, Max Planck Institute of Experimental Medicine, Max Planck Society, ou_2173652              
2Molecular biology of neuronal signals, Max Planck Institute of Experimental Medicine, Max Planck Society, ou_2173656              

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Free keywords: CLEFT-PALATE; EXPRESSION; GENES; MSX1; MUTANT; TBX1
 Abstract: The recent identification of SATB2 as a candidate gene responsible for the craniofacial dysmorphologies associated with deletions and translocations at 2q32-q33, one of only three regions of the genome for which haploinsufficiency has been significantly associated with isolated cleft palate, led us to investigate the in vivo functions of murine Satb2. We find that, similar to the way in which SATB2 is perceived to act in humans, craniofacial defects due to haploinsufficiency of Satb2, including cleft palate (in similar to 25% of cases), phenocopy those seen with 2q32-q33 deletions and translocations in humans. Full functional loss of Satb2 results in amplification of these defects and leads both to increased apoptosis in the craniofacial mesenchyme where Satb2 is usually expressed and to changes in the pattern of expression of three genes implicated in the regulation of craniofacial development in humans and mice: Pax9, Alx4, and Msx1. The Satb2-dosage sensitivity in craniofacial development is conspicuous-along with its control of cell survival, pattern of expression, and reversible functional modification by SUMOylation, it suggests that Satb2/SATB2 function in craniofacial development may prove to be more profound than has been anticipated previously. Because jaw development is Satb2-dosage sensitive, the regulators of Satb2 expression and posttranslational modification become of critical importance both ontogenetically and evolutionarily, especially since such regulators plausibly play undetected roles in jaw and palate development and in the etiology of craniofacial malformations.

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Language(s): eng - English
 Dates: 2006-10
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 292151
ISI: 000240855900008
ISI: 000240855900008
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Title: American Journal of Human Genetics
  Alternative Title : Am. J.Human Gen.
Source Genre: Journal
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Pages: - Volume / Issue: 79 (4) Sequence Number: - Start / End Page: 668 - 678 Identifier: ISSN: 0002-9297