scholarly journals High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma

2019 ◽  
Vol 41 (3) ◽  
pp. 678-695 ◽  
Author(s):  
Vijay K. Kalaskar ◽  
Ramakrishna P. Alur ◽  
LeeAnn K. Li ◽  
James W. Thomas ◽  
Yuri V. Sergeev ◽  
...  
Keyword(s):  
Retinoic Acid ◽  
Dna Binding ◽  
Nuclear Localization ◽  
High Throughput ◽  
Retinoic Acid Receptor ◽  
Dna Binding Domain ◽  
Novel Mutations ◽  
Retinoic Acid Receptor Beta ◽  
Receptor Beta ◽  
Capture Sequencing

The DNA binding domain of retinoic acid receptor beta is required for ligand-dependent suppression of proliferation. Application of general purpose mammalian coexpression vectors

1994 ◽  
Vol 107 (4) ◽  
pp. 827-838 ◽  
Author(s):  
J.V. Frangioni ◽  
N. Moghal ◽  
A. Stuart-Tilley ◽  
B.G. Neel ◽  
S.L. Alper
Keyword(s):  
Cell Proliferation ◽  
Retinoic Acid ◽  
Dna Binding ◽  
Retinoic Acid Receptor ◽  
General Purpose ◽  
Acid Receptor ◽  
All Trans Retinoic Acid ◽  
Retinoic Acid Receptor Beta ◽  
Transient Overexpression ◽  
Receptor Beta

We have developed a family of mammalian coexpression vectors that permit identification of living or fixed cells overexpressing a gene of interest by surrogate detection of a coexpressed marker protein. Using these ‘pMARK’ vectors, a fluorescence-based, single cell proliferation assay was developed and used to study the effect of retinoic acid receptor beta (RAR-beta) on cell cycling. We demonstrate that transient overexpression of RAR-beta in the presence, but not absence, of all-trans retinoic acid results in a dramatic suppression of cell proliferation. We further show that this effect requires the DNA binding (C) domain of RAR-beta. It has been previously shown that RAR-beta expression is markedly altered in a variety of neoplasms and cell lines. Our data support the hypothesis that loss of RAR-beta may contribute to tumor progression by removing normal restraints on proliferation. The pMARK vectors should be useful for studying other genes that putatively suppress or enhance proliferation.

scholarly journals Arg269 and Lys220 of retinoic acid receptor-beta are important for the binding of retinoic acid.

1994 ◽  
Vol 269 (30) ◽  
pp. 19516-19522
Author(s):  
N. Tairis ◽  
J.L. Gabriel ◽  
M. Gyda ◽  
K.J. Soprano ◽  
D.R. Soprano
Keyword(s):  
Retinoic Acid ◽  
Retinoic Acid Receptor ◽  
Acid Receptor ◽  
Retinoic Acid Receptor Beta ◽  
Receptor Beta

Development of the spatial pattern of retinoic acid receptor-beta transcripts in embryonic chick facial primordia

Development ◽  
1992 ◽  
Vol 114 (3) ◽  
pp. 805-813
Author(s):  
A. Rowe ◽  
J.M. Richman ◽  
P.M. Brickell
Keyword(s):  
Retinoic Acid ◽  
Neural Crest ◽  
Retinoic Acid Receptor ◽  
In Situ Hybridisation ◽  
Acid Receptor ◽  
Retinoic Acid Receptor Beta ◽  
Low Levels ◽  
Cranial Neural Crest Cells ◽  
Receptor Beta

Retinoic acid causes a range of embryonic defects, including craniofacial abnormalities, in both birds and mammals and is believed to have a number of roles in normal development. We have previously shown that the distribution of retinoic acid receptor-beta (RAR-beta) transcripts is spatially restricted within the neural-crest-derived upper beak primordia of the chick embryo. We have now used in situ hybridisation to trace the distribution of RAR-beta transcripts during the migration of cranial neural crest cells and during formation of these primordia. RAR-beta transcripts were present in a subset of migrating neural-crest-derived cells in the head of the stage 10 embryo. These cells were situated in pathways followed by cells that migrate from the neural crest overlying the posterior prosencephalic/anterior mesencephalic region of the developing brain. Cells containing RAR-beta transcripts accumulated around the developing eyes and in the regions of the ventral head from which the upper beak primordia later develop. We mapped the distribution of RAR-beta transcripts as the facial primordia were forming, with particular reference to the development of the maxillary primordia. We found that these form in a region of the ventral head that includes the boundary between regions of high and low levels of RAR-beta transcripts. The boundary between these two groups of cells persisted as the maxillary primordia developed.(ABSTRACT TRUNCATED AT 250 WORDS)

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