A <i>De Novo</i> Noncoding <i>RARB</i> Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

<div><i>RARB</i> overexpression leads to increased <i>FOXC1</i> expression. Relative changes in mRNA expression were evaluated in human lens epithelial cells (a) transfected with 0.5 <i>μ</i>g human <i>RARB</i> expression vector or (b) treated with 100 ng/mL CCL28. The expression level of several genes (<i>RARB</i>, <i>RARA</i>, <i>RARG</i>, <i>FOXC1</i>, <i>WNT5A</i>, <i>WNT5B,</i> and <i>B-catenin</i>) was measured via RT-qPCR. Values were normalized to <i>B-ACTIN</i> expression and presented as the average fold response compared to expression in control cultures. Data were derived from three independent replicates, each performed in duplicate. Unpaired <span class="nowrap"><svg height="8.02022pt" id="M73" style="vertical-align:-0.2063999pt" version="1.1" viewbox="-0.0498162 -7.81382 4.54925 8.02022" width="4.54925pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.013,0,0,-0.013,0,0)"><path d="M324 430H196L233 583L223 592L145 529L120 430H54L29 396L31 388H111L56 126C33 15 54 -12 77 -12C137 -12 214 57 250 95L233 119C208 92 155 59 138 59C126 59 120 70 131 125L186 390L298 394L324 430Z"></path></g></svg>-</span>tests were used to determine the statistical significance of any differences between transfected or CCL28-treated cells and their respective control samples. <span class="nowrap"><svg height="13.532pt" id="M74" style="vertical-align:-3.4295pt" version="1.1" viewbox="-0.0498162 -10.1025 50.6052 13.532" width="50.6052pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.0091,0,0,-0.0091,0,-5.741)"><path d="M486 158C486 177 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Error bars represent standard deviation.</div>

Human Mutation

fig7

Figure 7

Figure 7: A <i>De Novo</i> Noncoding <i>RARB</i> Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element 

Human Mutation

A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

Figure 7