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Development, Vol 120, Issue 10 2723-2748, Copyright © 1994 by Company of Biologists

JOURNAL ARTICLES

Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants

D Lohnes, M Mark, C Mendelsohn, P Dolle, A Dierich, P Gorry, A Gansmuller and P Chambon
Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, Unite 184 de Biologie Moleculaire et de Genie Genetique de l'INSERM, Institut de Chimie Biologique, Faculte de Medecine, Strasbourg, France.

Numerous congenital malformations have been observed in fetuses of vitamin A-deficient (VAD) dams [Wilson, J. G., Roth, C. B., Warkany, J., (1953), Am. J. Anat. 92, 189-217]. Previous studies of retinoic acid receptor (RAR) mutant mice have not revealed any of these malformations [Li, E., Sucov, H. M., Lee, K.-F., Evans, R. M., Jaenisch, R. (1993) Proc. Natl. Acad. Sci. USA 90, 1590-1594; Lohnes, D., Kastner, P., Dierich, A., Mark, M., LeMeur, M., Chambon, P. (1993) Cell 73, 643-658; Lufkin, T., Lohnes, D., Mark, M., Dierich, A., Gorry, P., Gaub, M. P., Lemeur, M., Chambon, P. (1993) Proc. Natl. Acad. Sci. USA 90, 7225-7229; Mendelsohn, C., Mark, M., Dolle, P., Dierich, A., Gaub, M.P., Krust, A., Lampron, C., Chambon, P. (1994a) Dev. Biol. in press], suggesting either that there is a considerable functional redundancy among members of the RAR family during ontogenesis or that the RARs are not essential transducers of the retinoid signal in vivo. In order to discriminate between these possibilities, we have generated a series of RAR compound null mutants. These RAR double mutants invariably died either in utero or shortly after birth and presented a number of congenital abnormalities, which are reported in this and in the accompanying study. We describe here multiple eye abnormalities which are found in various RAR double mutant fetuses and are similar to those previously seen in VAD fetuses. Interestingly, we found further abnormalities not previously reported in VAD fetuses.(ABSTRACT TRUNCATED AT 250 WORDS)
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PNAS, November 10, 1998; 95(23): 13714 - 13719.
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P. V. Bhat, M. Marcinkiewicz, Y. Li, and S. Mader
Changing Patterns of Renal Retinal Dehydrogenase Expression Parallel Nephron Development in the Rat
J. Histochem. Cytochem., September 1, 1998; 46(9): 1025 - 1032.
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 BloodHome page
J. Labrecque, D. Allan, P. Chambon, N. N. Iscove, D. Lohnes, and T. Hoang
Impaired Granulocytic Differentiation In Vitro in Hematopoietic Cells Lacking Retinoic Acid Receptors alpha 1 and gamma  
Blood, July 15, 1998; 92(2): 607 - 615.
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R. Gopal-Srivastava, A. Cvekl, and J. Piatigorsky
Involvement of Retinoic Acid/Retinoid Receptors in the Regulation of Murine alpha B-crystallin/Small Heat Shock Protein Gene Expression in the Lens
J. Biol. Chem., July 10, 1998; 273(28): 17954 - 17961.
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M. Yamaguchi, M. Nakamoto, H. Honda, T. Nakagawa, H. Fujita, T. Nakamura, H. Hirai, S. Narumiya, and A. Kakizuka
Retardation of skeletal development and cervical abnormalities in transgenic mice expressing a dominant-negative retinoic acid receptor in chondrogenic cells
PNAS, June 23, 1998; 95(13): 7491 - 7496.
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G. Sun, W. Porter, and S. Safe
Estrogen-Induced Retinoic Acid Receptor {alpha}1 Gene Expression: Role of Estrogen Receptor-Sp1 Complex
Mol. Endocrinol., June 1, 1998; 12(6): 882 - 890.
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R. Jiang, Y. Lan, H. D. Chapman, C. Shawber, C. R. Norton, D. V. Serreze, G. Weinmaster, and T. Gridley
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G. Duester
Alcohol Dehydrogenase as a Critical Mediator of Retinoic Acid Synthesis from Vitamin A in the Mouse Embryo
J. Nutr., February 1, 1998; 128(2): 459 - 459.
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 DevelopmentHome page
B Mascrez, M Mark, A Dierich, N. Ghyselinck, P Kastner, and P Chambon
The RXRalpha ligand-dependent activation function 2 (AF-2) is important for mouse development
Development, January 12, 1998; 125(23): 4691 - 4707.
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 DevelopmentHome page
H Kempf, C Linares, P Corvol, and J. Gasc
Pharmacological inactivation of the endothelin type A receptor in the early chick embryo: a model of mispatterning of the branchial arch derivatives
Development, January 12, 1998; 125(24): 4931 - 4941.
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 DevelopmentHome page
A. Packer, D. Crotty, V. Elwell, and D. Wolgemuth
Expression of the murine Hoxa4 gene requires both autoregulation and a conserved retinoic acid response element
Development, January 6, 1998; 125(11): 1991 - 1998.
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 DevelopmentHome page
D. Clouthier, K Hosoda, J. Richardson, S. Williams, H Yanagisawa, T Kuwaki, M Kumada, R. Hammer, and M Yanagisawa
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice
Development, January 3, 1998; 125(5): 813 - 824.
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 DevelopmentHome page
J van der Wees, J. Schilthuis, C. Koster, H Diesveld-Schipper, G. Folkers, P. van der Saag, M. Dawson, K Shudo, B van der Burg, and A. Durston
Inhibition of retinoic acid receptor-mediated signalling alters positional identity in the developing hindbrain
Development, January 2, 1998; 125(3): 545 - 556.
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 EndocrinologyHome page
H. Harada, Y. Kuboi, R. Miki, C. Honda, S. Masushige, M. Nakatsuka, Y. Koga, and S. Kato
Cloning of Rabbit TR4 and Its Bone Cell-Specific Activity to Suppress Estrogen Receptor-Mediated Transactivation
Endocrinology, January 1, 1998; 139(1): 204 - 212.
[Abstract] [Full Text] [PDF]

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Y. Tanaka, I. Naruse, T. Maekawa, H. Masuya, T. Shiroishi, and S. Ishii
Abnormal skeletal patterning in embryos lacking a single Cbp allele: A partial similarity with Rubinstein-Taybi syndrome
PNAS, September 16, 1997; 94(19): 10215 - 10220.
[Abstract] [Full Text] [PDF]

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 Genes Dev.Home page
S P Oh and E Li
The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse.
Genes & Dev., July 15, 1997; 11(14): 1812 - 1826.
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 BloodHome page
D. G. Tenen, R. Hromas, J. D. Licht, and D.-E. Zhang
Transcription Factors, Normal Myeloid Development, and Leukemia
Blood, July 15, 1997; 90(2): 489 - 519.
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R. Y. Lee, J. Luo, R. M. Evans, V. Giguere, and H. M. Sucov
Compartment-Selective Sensitivity of Cardiovascular Morphogenesis to Combinations of Retinoic Acid Receptor Gene Mutations
Circ. Res., June 19, 1997; 80(6): 757 - 764.
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 JCBHome page
D. E. Cash, C. B. Bock, K. Schughart, E. Linney, and T. M. Underhill
Retinoic Acid Receptor {alpha} Function in Vertebrate Limb Skeletogenesis: a Modulator of Chondrogenesis
J. Cell Biol., January 27, 1997; 136(2): 445 - 457.
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A. W. Langston, J. R. Thompson, and L. J. Gudas
Retinoic Acid-responsive Enhancers Located 3' of the Hox A and Hox B Homeobox Gene Clusters. FUNCTIONAL ANALYSIS
J. Biol. Chem., January 24, 1997; 272(4): 2167 - 2175.
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 DevelopmentHome page
P Kastner, N Messaddeq, M Mark, O Wendling, J. Grondona, S Ward, N Ghyselinck, and P Chambon
Vitamin A deficiency and mutations of RXRalpha, RXRbeta and RARalpha lead to early differentiation of embryonic ventricular cardiomyocytes
Development, January 12, 1997; 124(23): 4749 - 4758.
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 DevelopmentHome page
L. Sanford, I Ormsby, A. Gittenberger-de Groot, H Sariola, R Friedman, G. Boivin, E. Cardell, and T Doetschman
TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes
Development, January 7, 1997; 124(13): 2659 - 2670.
[Abstract] [PDF]

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 CROBMHome page
P.C. Denny, W.D. Ball, and R.S. Redman
Salivary Glands: A Paradigm for Diversity of Gland Development
Critical Reviews in Oral Biology & Medicine, January 1, 1997; 8(1): 51 - 75.
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 Cold Spring Harb Symp Quant BiolHome page
P. J. Kolm and H. L. Sive
Retinoids and Posterior Neural Induction: A Reevaluation of Nieuwkoop's Two-step Hypothesis
Cold Spring Harb Symp Quant Biol, January 1, 1997; 62(0): 511 - 521.
[Abstract] [PDF]

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 DevelopmentHome page
P Kastner, M Mark, N Ghyselinck, W Krezel, V Dupe, J. Grondona, and P Chambon
Genetic evidence that the retinoid signal is transduced by heterodimeric RXR/RAR functional units during mouse development
Development, January 1, 1997; 124(2): 313 - 326.
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 DevelopmentHome page
V Dupe, M Davenne, J Brocard, P Dolle, M Mark, A Dierich, P Chambon, and F. Rijli
In vivo functional analysis of the Hoxa-1 3' retinoic acid response element (3'RARE)
Development, January 1, 1997; 124(2): 399 - 410.
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Y. S. Lopez-Boado, M. Klaus, M. I. Dawson, and C. Lopez-Otin
Retinoic Acid-induced Expression of Apolipoprotein D and Concomitant Growth Arrest in Human Breast Cancer Cells Are Mediated through a Retinoic Acid Receptor RARalpha -dependent Signaling Pathway
J. Biol. Chem., December 13, 1996; 271(50): 32105 - 32111.
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M Gerard, J Y Chen, H Gronemeyer, P Chambon, D Duboule, and J Zakany
In vivo targeted mutagenesis of a regulatory element required for positioning the Hoxd-11 and Hoxd-10 expression boundaries.
Genes & Dev., September 15, 1996; 10(18): 2326 - 2334.
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 DevelopmentHome page
J. Grondona, P Kastner, A Gansmuller, D Decimo, P Chambon, and M Mark
Retinal dysplasia and degeneration in RARbeta2/RARgamma2 compound mutant mice
Development, July 1, 1996; 122(7): 2173 - 2188.
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J. Biol. Chem., April 19, 1996; 271(16): 9526 - 9534.
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T. Schilling, T Piotrowski, H Grandel, M Brand, C. Heisenberg, Y. Jiang, D Beuchle, M Hammerschmidt, D. Kane, M. Mullins, et al.
Jaw and branchial arch mutants in zebrafish I: branchial arches
Development, January 12, 1996; 123(1): 329 - 344.
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