Human Molecular Genetics, Vol 6, 457-464, Copyright © 1997 by Oxford University Press
PJ Gage and SA Camper
Genetic analysis of mouse mutants has demonstrated the importance of the
homeobox genes Rpx, Lhx3 and Pit1 for anterior pituitary gland development.
Pit1 mutations have also been identified in several human families with
multiple pituitary hormone deficiencies. To identify additional homeobox
regulators of pituitary development, we screened an adult pituitary gland
cDNA library for homeobox sequences. Here, we report the identification of
a novel bicoid-related homeodomain gene expressing two alternatively
spliced mRNA products, which encode proteins of 271 and 317 amino acids,
respectively. The proteins have been named Ptx2a and Ptx2b since they are
highly related to Ptx1/P-OTX. Ptx2 is expressed in both developing and
adult pituitary gland, eye and brain tissues, suggesting an important role
in development and maintenance of anterior structures. Ptx2 was mapped
close to Egf on mouse chromosome 3, in a region having extensive synteny
homology with HSA 4q. These data make the human Ptx2 homologue a candidate
gene for Rieger syndrome, an autosomal-dominant disorder with variable
craniofacial, dental, eye and pituitary anomalies.
ARTICLES
Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618, USA.
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