Human Molecular Genetics, Vol 7, 1835-1840, Copyright © 1998 by Oxford University Press
M Wakamiya, EA Lindsay, JA Rivera-Perez, A Baldini and RR Behringer
Gscl encodes a Goosecoid-related homeodomain protein that is expressed
during mouse embryogenesis. In situ hybridization and immunohistochemistry
studies show that Gscl is expressed in the pons region of the developing
central nervous system and primordial germ cells. Gscl expression is also
detected in a subset of adult tissues, including brain, eye, thymus,
thyroid region, stomach, bladder and testis. Gscl is located within a
region of the mouse genome that is syntenic with the region commonly
deleted in DiGeorge and velocardiofacial syndrome (DGS/VCFS) patients.
DGS/VCFS patients have craniofacial abnormalities, cardiac outflow defects
and hypoplasia of the parathyroid gland and thymus due to
haploinsufficiency of a gene or genes located within the deleted region.
Thus, the genomic location of Gscl and its expression in a subset of the
tissues affected in DGS/VCFS patients suggest that Gscl may contribute to
the pathogenesis of DGS/VCFS. To determine the role of Gscl during mouse
embryogenesis and in DGS/VCFS, we have deleted Gscl by gene targeting in
mouse embryonic stem cells. Both Gscl heterozygous and Gscl null mice were
normal and fertile, suggesting that Gscl is not a major factor in DGS/VCFS.
Interestingly, expression of the adjacent Es2 gene in the pons region of
Gscl null fetuses was absent, suggesting that mutations within the DGS/VCFS
region can influence expression of adjacent genes. In addition, embryos
that lacked both Gscl and the related Gsc gene appeared normal. These
studies represent the first functional analysis of a DGS/VCFS candidate
gene in vivo. These Gscl null mice will be an important genetic resource
for crosses with other mouse models of the DGS/VCFS.
ARTICLES
Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes
Department of Molecular Genetics, University of Texas M.D.Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA.
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