Disease relevance of Satb2

• Satb2-/- mice exhibit both craniofacial abnormalities that resemble those observed in humans carrying a translocation in SATB2 and defects in osteoblast differentiation and function [1].
• 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 ~25% of cases), phenocopy those seen with 2q32-q33 deletions and translocations in humans [2].

High impact information on Satb2

• Here, we show that Satb2, encoding a nuclear matrix protein, is expressed in branchial arches and in cells of the osteoblast lineage [1].
• 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 [2].
• Satb2 showed 61% amino-acid homology to Satb1 [3].
• In the Lbx1 mutants Satb2 expression is greatly reduced [3].
• Novel transcription factor Satb2 interacts with matrix attachment region DNA elements in a tissue-specific manner and demonstrates cell-type-dependent expression in the developing mouse CNS [3].

Anatomical context of Satb2

• In the developing neocortex Satb2 was detected largely in the superficial layers [3].
• In the developing spinal cord Satb2 expression marks a subpopulation of Lbx1-positive neurons dorsally and a subgroup of Isl1-positive neurons ventrally [3].

Physical interactions of Satb2

• Satb2 protein interacts with the Ctip2 genomic region and controls chromatin remodeling at this locus [4].

References