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Expression of the Rieger syndrome Pitx2 protein in mouse development

Hjalt, Tord LU ; Semina, Elena V ; Amendt, BA and Murray, J C (1999) American Society of Human Genetics
Abstract
The Rieger syndrome, an autosomal dominant disorder involving ocular, dental, and umbilical defects is caused by
mutations in PITX2, a Bicoid type homeobox protein. Moreover, Pitx2 is involved in the Nodal/Sonic hedgehog
pathway that determines left/right polarity. Mouse Pitx2 mRNA is expressed in eye, tooth and umbilicus consistent with
the human Riegers phenotype. It is also asymmetrically expressed on the left side in the early lateral plate mesoderm,
and later to the left in structures of the gut and the heart. In this report we demonstrate a 32 kDa polypeptide on western
blots of nuclear extracts from a rat pituitary cell line, using a Pitx2 specific antibody (designated P2R10). The rabbit anti
human P2R10 was... (More)
The Rieger syndrome, an autosomal dominant disorder involving ocular, dental, and umbilical defects is caused by
mutations in PITX2, a Bicoid type homeobox protein. Moreover, Pitx2 is involved in the Nodal/Sonic hedgehog
pathway that determines left/right polarity. Mouse Pitx2 mRNA is expressed in eye, tooth and umbilicus consistent with
the human Riegers phenotype. It is also asymmetrically expressed on the left side in the early lateral plate mesoderm,
and later to the left in structures of the gut and the heart. In this report we demonstrate a 32 kDa polypeptide on western
blots of nuclear extracts from a rat pituitary cell line, using a Pitx2 specific antibody (designated P2R10). The rabbit anti
human P2R10 was specific for a region in the N-terminus, preceding the homeodomain. The epitope is conserved
between human, mouse, and Xenopus Pitx2. We describe also expression of the Pitx2 protein in mouse. Pitx2 protein
immunostaining was detectable during the development of the eye, tooth, umbilicus, and also in the pituitary, heart, gut,
and limb. In the developing eye, Pitx2 protein was expressed in the corneal ectoderm, and in late stages in the iris. We
detected asymmetric expression of Pitx2 protein in the early heart and gut. Pitx2 was also expressed in the septum
primum of the heart. We further show nuclear localization for transiently transfected PITX2, as well as for
endogenously expressed PITX2 in a pituitary cell line. The Rieger syndrome mutation T68P was also shown to be
nuclear localized. These localizations are consistent with the Rieger phenotype and support a role for PITX2 in cardiac
development as well. (Less)
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Contribution to conference
publication status
published
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conference name
American Society of Human Genetics
conference location
San Francisco, United States
conference dates
1999-10-26
language
English
LU publication?
no
id
8ce0122d-ee67-41ee-9142-c9a249dd1a93
alternative location
https://www.ashg.org/wp-content/uploads/2019/10/1999-poster-abstracts.pdf
date added to LUP
2024-12-10 09:15:32
date last changed
2025-04-04 14:12:24
@misc{8ce0122d-ee67-41ee-9142-c9a249dd1a93,
  abstract     = {{The Rieger syndrome, an autosomal dominant disorder involving ocular, dental, and umbilical defects is caused by<br/>mutations in PITX2, a Bicoid type homeobox protein. Moreover, Pitx2 is involved in the Nodal/Sonic hedgehog<br/>pathway that determines left/right polarity. Mouse Pitx2 mRNA is expressed in eye, tooth and umbilicus consistent with<br/>the human Riegers phenotype. It is also asymmetrically expressed on the left side in the early lateral plate mesoderm,<br/>and later to the left in structures of the gut and the heart. In this report we demonstrate a 32 kDa polypeptide on western<br/>blots of nuclear extracts from a rat pituitary cell line, using a Pitx2 specific antibody (designated P2R10). The rabbit anti<br/>human P2R10 was specific for a region in the N-terminus, preceding the homeodomain. The epitope is conserved<br/>between human, mouse, and Xenopus Pitx2. We describe also expression of the Pitx2 protein in mouse. Pitx2 protein<br/>immunostaining was detectable during the development of the eye, tooth, umbilicus, and also in the pituitary, heart, gut,<br/>and limb. In the developing eye, Pitx2 protein was expressed in the corneal ectoderm, and in late stages in the iris. We<br/>detected asymmetric expression of Pitx2 protein in the early heart and gut. Pitx2 was also expressed in the septum<br/>primum of the heart. We further show nuclear localization for transiently transfected PITX2, as well as for<br/>endogenously expressed PITX2 in a pituitary cell line. The Rieger syndrome mutation T68P was also shown to be<br/>nuclear localized. These localizations are consistent with the Rieger phenotype and support a role for PITX2 in cardiac<br/>development as well.}},
  author       = {{Hjalt, Tord and Semina, Elena V and Amendt, BA and Murray, J C}},
  language     = {{eng}},
  title        = {{Expression of the Rieger syndrome Pitx2 protein in mouse development}},
  url          = {{https://www.ashg.org/wp-content/uploads/2019/10/1999-poster-abstracts.pdf}},
  year         = {{1999}},
}