RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina
RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina
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DOI：
10.1006/geno.2000.6248
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发表时间：
2000-07-15
期刊：
影响因子：
4.4
通讯作者：
Deeb, SS
中科院分区：
文献类型：
--
作者：
Hayashi, T;Huang, J;Deeb, SS
人类红、绿色视色素基因的基因座控制区（locus control region，LCR）对视网膜中功能性红、绿色视锥细胞的形成至关重要。LCR的37-bp核心在哺乳动物中是完全保守的，并结合特定的视网膜核蛋白。在这里，我们采用酵母单杂交筛选成人视网膜cDNA文库克隆和表征这些蛋白质。我们鉴定了编码同源结构域（HD）转录因子Pax 6、Rx和Chx 10以及一种新型配对样HD蛋白RINX的克隆。在成人视网膜中，RINX仅在视网膜内核层（INL）的细胞亚群（可能是双极细胞）中表达。RINX与Chx 10密切相关，Chx 10也仅在成人视网膜的INL中表达，对视网膜发育至关重要。RINX基因以两类mRNA表达。一类编码缺乏部分或全部HD但保留转录激活结构域的蛋白质。RINX基因定位于染色体20p11.2，尚未发现视网膜疾病。总之，LCR包含两个相邻的基序，它们是HD蛋白结合的靶点，可以指定视锥光感受器和INL双极细胞的子集的发育和分化。相关的人类CHX 10基因的突变在一部分家族中引起小眼症，因此，RINX基因是另一部分患者中这种表型的候选者。由于RINX基因可能是金鱼VSX 1基因的直系同源物，因此人类基因命名委员会将其命名为VSX 1。(C)北京大学出版社.
The locus control region (LCR) of the human red and green visual pigment genes is critical for the formation of functional red and green cones in the retina. A 37-bp core of the LCR is perfectly conserved among mammals and binds specific retinal nuclear proteins. Here, we employed a yeast one-hybrid screen of an adult retinal cDNA library to clone and characterize these proteins. We identified clones encoding homeodomain (HD) transcription factors Pax6, Rx, and Chx10 and a novel paired-like HD protein, RINX. In the adult retina, RINX is exclusively expressed in a subset of cells (likely to be bipolar cells) of the retinal inner nuclear layer (INL). RINX is closely related to Chx10, which is also exclusively expressed in the INL of the adult retina and is critical for retinal development. The RINX gene is expressed in two classes of mRNA. One class encodes proteins that lack either part of or all of the HD, but retain the transcriptional activation domain. The RINX gene maps to chromosome 20p11.2 to which no retinal disease has been assigned. In conclusion, the LCR contains two adjacent motifs that are targets for binding of HD proteins that may specify the development and differentiation of cone photoreceptors and a subset of INL bipolar cells. Mutations in the related human CHX10 gene cause microphthalmia in a subset of families, and, therefore, the RINX gene is a candidate for this phenotype in another subset of patients. Since the RINX gene is likely an ortholog of the goldfish Vsx1 gene, it has been named VSX1 by the Human Gene Nomenclature Committee. (C) 2000 Academic Press.