Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation
Identifieur interne : 008742 ( Ncbi/Checkpoint ); précédent : 008741; suivant : 008743Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation
Auteurs : Leilei Zhang [République populaire de Chine] ; Jie He [République populaire de Chine] ; Bing Han [République populaire de Chine] ; Linna Lu [République populaire de Chine] ; Jiayan Fan [République populaire de Chine] ; He Zhang [République populaire de Chine] ; Shengfang Ge [République populaire de Chine] ; Yixiong Zhou [République populaire de Chine] ; Renbing Jia [République populaire de Chine] ; Xianqun Fan [République populaire de Chine]Source :
- International Journal of Biological Sciences [ 1449-2288 ] ; 2016.
Abstract
Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary.
Url:
DOI: 10.7150/ijbs.13774
PubMed: 27570485
PubMed Central: 4997055
Affiliations:
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Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation</title>
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Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation</title>
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<front><div type="abstract" xml:lang="en"><p>Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary. <italic>FOXC2</italic>
gene mutations in hereditary distichiasis are rarely reported. Here, we examined two generations of a Chinese family with hereditary distichiasis but without lymphedema or other features of LD syndrome. The <italic>FOXC2</italic>
gene was amplified and sequenced in all family members. Subcellular localization and luciferase assays were performed to assess the activity of the mutant FOXC2 protein. Clinical examinations showed distichiasis, lower eyelid ectropion, congenital ptosis and photophobia in all affected individuals. Sequence analysis revealed a novel frameshift mutation, c.964_965insG, in the coding region of the<italic> FOXC2</italic>
gene. This mutation caused protein truncation due to the presence of a premature stop codon. A fluorescence assay showed that this mutation did not change the nuclear localization of the protein. However, it impaired DNA-binding activity and decreased transcriptional activation. This is the first report of a <italic>FOXC2 </italic>
mutation in hereditary distichiasis in the Chinese population. The findings of our study expand the <italic>FOXC2</italic>
mutation spectrum and contribute to the understanding of the genotype-phenotype correlation of this disease.</p>
</div>
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<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Vreeburg, M" uniqKey="Vreeburg M">M Vreeburg</name>
</author>
<author><name sortKey="Heitink, Mv" uniqKey="Heitink M">MV Heitink</name>
</author>
<author><name sortKey="Damstra, Rj" uniqKey="Damstra R">RJ Damstra</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mellor, Rh" uniqKey="Mellor R">RH Mellor</name>
</author>
<author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name>
</author>
<author><name sortKey="Stanton, Aw" uniqKey="Stanton A">AW Stanton</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mangion, J" uniqKey="Mangion J">J Mangion</name>
</author>
<author><name sortKey="Rahman, N" uniqKey="Rahman N">N Rahman</name>
</author>
<author><name sortKey="Mansour, S" uniqKey="Mansour S">S Mansour</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yabuki, S" uniqKey="Yabuki S">S Yabuki</name>
</author>
<author><name sortKey="Kikuchi, S" uniqKey="Kikuchi S">S Kikuchi</name>
</author>
<author><name sortKey="Ikegawa, S" uniqKey="Ikegawa S">S Ikegawa</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Traboulsi, Ei" uniqKey="Traboulsi E">EI Traboulsi</name>
</author>
<author><name sortKey="Al Khayer, K" uniqKey="Al Khayer K">K Al-Khayer</name>
</author>
<author><name sortKey="Matsumoto, M" uniqKey="Matsumoto M">M Matsumoto</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Patil, Bb" uniqKey="Patil B">BB Patil</name>
</author>
<author><name sortKey="Bell, R" uniqKey="Bell R">R Bell</name>
</author>
<author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Brooks, Bp" uniqKey="Brooks B">BP Brooks</name>
</author>
<author><name sortKey="Dagenais, Sl" uniqKey="Dagenais S">SL Dagenais</name>
</author>
<author><name sortKey="Nelson, Cc" uniqKey="Nelson C">CC Nelson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Zhang, L" uniqKey="Zhang L">L Zhang</name>
</author>
<author><name sortKey="Jia, R" uniqKey="Jia R">R Jia</name>
</author>
<author><name sortKey="Zhao, J" uniqKey="Zhao J">J Zhao</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Saleem, Ra" uniqKey="Saleem R">RA Saleem</name>
</author>
<author><name sortKey="Banerjee Basu, S" uniqKey="Banerjee Basu S">S Banerjee-Basu</name>
</author>
<author><name sortKey="Berry, Fb" uniqKey="Berry F">FB Berry</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Berry, Fb" uniqKey="Berry F">FB Berry</name>
</author>
<author><name sortKey="Tamimi, Y" uniqKey="Tamimi Y">Y Tamimi</name>
</author>
<author><name sortKey="Carle, Mv" uniqKey="Carle M">MV Carle</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Roy, A" uniqKey="Roy A">A Roy</name>
</author>
<author><name sortKey="Kucukural, A" uniqKey="Kucukural A">A Kucukural</name>
</author>
<author><name sortKey="Zhang, Y" uniqKey="Zhang Y">Y Zhang</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Carlsson, P" uniqKey="Carlsson P">P Carlsson</name>
</author>
<author><name sortKey="Mahlapuu, M" uniqKey="Mahlapuu M">M Mahlapuu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Katoh, M" uniqKey="Katoh M">M Katoh</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lines, Ma" uniqKey="Lines M">MA Lines</name>
</author>
<author><name sortKey="Kozlowski, K" uniqKey="Kozlowski K">K Kozlowski</name>
</author>
<author><name sortKey="Walter, Ma" uniqKey="Walter M">MA Walter</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ito, Ya" uniqKey="Ito Y">YA Ito</name>
</author>
<author><name sortKey="Goping, Is" uniqKey="Goping I">IS Goping</name>
</author>
<author><name sortKey="Berry, F" uniqKey="Berry F">F Berry</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Du, Rf" uniqKey="Du R">RF Du</name>
</author>
<author><name sortKey="Huang, H" uniqKey="Huang H">H Huang</name>
</author>
<author><name sortKey="Fan, Ll" uniqKey="Fan L">LL Fan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Semina, Ev" uniqKey="Semina E">EV Semina</name>
</author>
<author><name sortKey="Brownell, I" uniqKey="Brownell I">I Brownell</name>
</author>
<author><name sortKey="Mintz Hittner, Ha" uniqKey="Mintz Hittner H">HA Mintz-Hittner</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Islam, L" uniqKey="Islam L">L Islam</name>
</author>
<author><name sortKey="Kelberman, D" uniqKey="Kelberman D">D Kelberman</name>
</author>
<author><name sortKey="Williamson, L" uniqKey="Williamson L">L Williamson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Crisponi, L" uniqKey="Crisponi L">L Crisponi</name>
</author>
<author><name sortKey="Deiana, M" uniqKey="Deiana M">M Deiana</name>
</author>
<author><name sortKey="Loi, A" uniqKey="Loi A">A Loi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Fan, J" uniqKey="Fan J">J Fan</name>
</author>
<author><name sortKey="Zhou, Y" uniqKey="Zhou Y">Y Zhou</name>
</author>
<author><name sortKey="Huang, X" uniqKey="Huang X">X Huang</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Laissue, P" uniqKey="Laissue P">P Laissue</name>
</author>
<author><name sortKey="Lakhal, B" uniqKey="Lakhal B">B Lakhal</name>
</author>
<author><name sortKey="Benayoun, Ba" uniqKey="Benayoun B">BA Benayoun</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Berry, Fb" uniqKey="Berry F">FB Berry</name>
</author>
<author><name sortKey="Saleem, Ra" uniqKey="Saleem R">RA Saleem</name>
</author>
<author><name sortKey="Walter, Ma" uniqKey="Walter M">MA Walter</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Fujita, H" uniqKey="Fujita H">H Fujita</name>
</author>
<author><name sortKey="Kang, M" uniqKey="Kang M">M Kang</name>
</author>
<author><name sortKey="Eren, M" uniqKey="Eren M">M Eren</name>
</author>
</analytic>
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</author>
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</author>
<author><name sortKey="Damstra, Rj" uniqKey="Damstra R">RJ Damstra</name>
</author>
<author><name sortKey="Heitink, Mv" uniqKey="Heitink M">MV Heitink</name>
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</author>
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<biblStruct><analytic><author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name>
</author>
<author><name sortKey="Mansour, S" uniqKey="Mansour S">S Mansour</name>
</author>
<author><name sortKey="Bell, R" uniqKey="Bell R">R Bell</name>
</author>
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</TEI>
<affiliations><list><country><li>République populaire de Chine</li>
</country>
</list>
<tree><country name="République populaire de Chine"><noRegion><name sortKey="Zhang, Leilei" sort="Zhang, Leilei" uniqKey="Zhang L" first="Leilei" last="Zhang">Leilei Zhang</name>
</noRegion>
<name sortKey="Fan, Jiayan" sort="Fan, Jiayan" uniqKey="Fan J" first="Jiayan" last="Fan">Jiayan Fan</name>
<name sortKey="Fan, Xianqun" sort="Fan, Xianqun" uniqKey="Fan X" first="Xianqun" last="Fan">Xianqun Fan</name>
<name sortKey="Ge, Shengfang" sort="Ge, Shengfang" uniqKey="Ge S" first="Shengfang" last="Ge">Shengfang Ge</name>
<name sortKey="Han, Bing" sort="Han, Bing" uniqKey="Han B" first="Bing" last="Han">Bing Han</name>
<name sortKey="He, Jie" sort="He, Jie" uniqKey="He J" first="Jie" last="He">Jie He</name>
<name sortKey="Jia, Renbing" sort="Jia, Renbing" uniqKey="Jia R" first="Renbing" last="Jia">Renbing Jia</name>
<name sortKey="Lu, Linna" sort="Lu, Linna" uniqKey="Lu L" first="Linna" last="Lu">Linna Lu</name>
<name sortKey="Zhang, He" sort="Zhang, He" uniqKey="Zhang H" first="He" last="Zhang">He Zhang</name>
<name sortKey="Zhou, Yixiong" sort="Zhou, Yixiong" uniqKey="Zhou Y" first="Yixiong" last="Zhou">Yixiong Zhou</name>
</country>
</tree>
</affiliations>
</record>
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