This 14 amino acid motif has been identified within the C-terminal region of
several Paired-like homeodomain (HD) (see <PDOC00027>) containing proteins [1,2]. It was named OAR domain after the initials of otp, aristaless, and rax
[3].
Although it has been proposed that this domain could be important for
transactivation and be involved in protein-protein interactions or DNA binding
[3,4], its function is not yet known.
Some proteins known to contain an OAR domain are listed below:
Human RIEG. Defects in this protein are the cause of Rieger syndrome, an
autosomal dominant disorder that includes anomalies of the anterior chamber
of the eye, dental hypoplasia and a protuberant umbilicus [1].
Mammalian OG12X. The function of these proteins is not yet known [2].
Vertebrate Rax, encoded by the retina and anterior neural fold homeobox
gene. This protein plays a role in the proliferation and/or differentiation
of retinal cell [3].
Drosophila DRX. It could be a homolog of vertebrate Rax. It appears to be
important in brain development [5].
Human SHOX, encoded by the short stature homeobox-containing gene. Defects
or lack of this protein are the cause of short stature associated with the
Turner syndrome [4].
Mammalian PITX3. This protein appears to be involved in normal eye
anterior-chamber and lens development [6,7]. In human, defects in PITX3 are
associated with anterior segment mesenchymal dysgenesis (ASMD) and
autosomal-dominant congenital cataracts (ADCC) [7].
Vertebrate Pax3 and Pax7, transcription factors that play fundamental roles
in the development of multi-cellular animals (Metazoa) [8].
Rao E. Weiss B. Fukami M. Rump A. Niesler B. Mertz A. Muroya K. Binder G. Kirsch S. Winkelmann M. Nordsiek G. Heinrich U. Breuning M.H. Ranke M.B. Rosenthal A. Ogata T. Rappold G.A.
Title
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19.
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