Tomarev S I, Zinovieva R D, Chang B, Hawes N L
Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Biochem Biophys Res Commun. 1998 Jul 30;248(3):684-9. doi: 10.1006/bbrc.1998.8989.
Prox1, a vertebrate homologue of Drosophila prospero, encodes a divergent homeodomain protein. We have isolated and characterized full length mouse Prox1 cDNA and genomic clones. Mouse Prox1 gene mapped to position 106.3 cM from the centromere of Chromosome 1, which is very close to the retinal degeneration mutation, rd3. Although the coding sequence and exon-intron junctions of the Prox1 genes of wild type and rd3 mutant mice are identical, Northern blot analysis indicated that the ratio of the short (2.3 kb) and long (8 kb) forms of Prox1 mRNA is different in RNA isolated from wild type and rd3 retinas. Immunostaining of the eyes from wild type and rd3 animals also revealed differences in the distribution of Prox1 protein in the retina and lens. These data suggest that the rd3 mutation affects expression of the mouse Prox1 gene.
Prox1是果蝇prospero的脊椎动物同源物，编码一种不同的同源结构域蛋白。我们已经分离并鉴定了全长小鼠Prox1 cDNA和基因组克隆。小鼠Prox1基因定位于距1号染色体着丝粒106.3 cM的位置，这与视网膜退化突变rd3非常接近。尽管野生型和rd3突变型小鼠的Prox1基因的编码序列和外显子-内含子连接是相同的，但Northern印迹分析表明，从野生型和rd3视网膜分离的RNA中，Prox1 mRNA的短（2.3 kb）和长（8 kb）形式的比例不同。对野生型和rd3动物眼睛的免疫染色也揭示了Prox1蛋白在视网膜和晶状体中分布的差异。这些数据表明，rd3突变影响小鼠Prox1基因的表达。
