Abstract
Cat eye syndrome is a rare developmental defect associated with duplication of chromosome 22q11. The patients demonstrate specific abnormalities of heart, kidney, and eye. Here we attempted to produce a model for this defect by expressing CECR1 adenosine deaminase, a gene duplicated in cat eye syndrome patients, in mice. The transgenic mice expressed CECR1 under the control of either β-actin promoter for ubiquitous expression or myosin heavy chain for heart-specific expression. The transgenics expressing CECR1 in the heart demonstrated high rate of embryonic and neonatal lethality. The mice from all the lines examined showed enlargement of the heart. Abnormalities of the kidney and eye were also detected in mice expressing CECR1 under control of the actin promoter.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
DB Akalal GT Nagle (2001) ArticleTitleMollusk-derived growth factor: cloning and developmental expression in the central nervous system and reproductive tract of Aplysia Brain Res Mol Brain Res 91 163–168 Occurrence Handle11457505
R Charlab JG Valenzuela J Andersen JM Ribeiro (2001) ArticleTitleThe invertebrate growth factor/CECR1 subfamily of adenosine deaminase proteins Gene 267 13–22 Occurrence Handle11311551
RK Dubey DG Gillespie Z Mi EK Jackson (2001) ArticleTitleEndogenous cyclic AMP-adenosine pathway regulates cardiac fibroblast growth Hypertension 37 1095–1100 Occurrence Handle11304509
RK Dubey Z Mi DG Gillespie EK Jackson (1996) ArticleTitleCyclic AMP-adenosine pathway inhibits vascular smooth muscle cell growth Hypertension 28 765–771 Occurrence Handle8901821
GR Ehring IL Szabo MK Jones IJ Sarfeh AS Tarnawski (2000) ArticleTitleATP-induced CA2+-signaling enhances rat gastric microvascular endothelial cell migration J Physiol Pharmacol 51 799–811 Occurrence Handle11220489
TK Footz P Brinkman-Mills GS Banting SA Maier MA Riazi et al. Bridgland L (2001) ArticleTitleAnalysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere Genome Res 11 1053–1070 Occurrence Handle11381032
J Gulick A Subramaniam J Neumann J Robbins (1991) ArticleTitleIsolation and characterization of the mouse cardiac myosin heavy chain genes J Biol Chem 266 9180–9185 Occurrence Handle2026617
K Homma T Matsushita S Natori (1996) ArticleTitlePurification, characterization, and cDNA cloning of a novel growth factor from the conditioned medium of NIH-Sape-4, an embryonic cell line of Sarcophaga peregrina (flesh fly) J Biol Chem 271 13770–13775 Occurrence Handle8662793
KJ Homma Y Tanaka T Matsushita K Yokoyama H Matsui S Natori (2001) ArticleTitleAdenosine deaminase activity of insect-derived growth factor is essential for its growth factor activity J Biol Chem 276 43761–43766 Occurrence Handle11562360
SA Maier L Podemski SW Graham HE McDermid J Locke (2001) ArticleTitleCharacterization of the adenosine deaminase-related growth factor (ADGF) gene family in Drosophila Gene 280 27–36 Occurrence Handle11738815
AJ Mears AM Duncan ML Budarf BS Emanuel B Sellinger et al. Siegel-Bartelt J (1994) ArticleTitleMolecular characterization of the marker chromosome associated with cat eye syndrome Am J Hum Genet 55 134–142 Occurrence Handle7912885
AJ Mears H el-Shanti JC Murray HE McDermid SR Patil (1995) ArticleTitleMinute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region Am J Hum Genet 57 667–673 Occurrence Handle7668296
M Okabe M Ikawa K Kominami T Nakanishi Y Nishimune (1997) ArticleTitle‘Green mice’ as a source of ubiquitous green cells FEBS Lett 407 313–319 Occurrence Handle1:CAS:528:DyaK2sXivFyrsrY%3D Occurrence Handle9175875
MA Riazi P Brinkman-Mills T Nguyen H Pan S Phan et al. Ying F (2000) ArticleTitleThe human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome Genomics 64 277–285 Occurrence Handle10756095
SA Rivkees Z Zhao G Porter C Turner (2001) ArticleTitleInfluences of adenosine on the fetus and newborn Mol Genet Metab 74 160–171 Occurrence Handle11592813
A Schinzel W Schmid M Fraccaro L Tiepolo O Zuffardi et al. Opitz JM (1981) ArticleTitleThe ‘cat eye syndrome’: dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture Hum Genet 57 148–158 Occurrence Handle6785205
DA Tyndall CS Cook (1990) ArticleTitleSpontaneous, asymmetrical microphthalmia in C57B1/6J mice J Craniofac Genet Dev Biol 10 353–361 Occurrence Handle2074273
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Riazi, A.M., Arsdell, G.V. & Buchwald, M. Transgenic expression of CECR1 adenosine deaminase in mice results in abnormal development of heart and kidney. Transgenic Res 14, 333–336 (2005). https://doi.org/10.1007/s11248-005-1174-2
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/s11248-005-1174-2