MOLECULAR BIOLOGY, STRUCTURES AND FUNCTION OF CRYSTALLINS

眼睛的组织依赖于专门的蛋白质家族。透镜的主要家族被称为晶体蛋白。我们已经证明，在人类和其他物种中，晶体蛋白是由蛋白质的基因募集产生的，这些蛋白质的功能早于它们在透镜中的作用。在某些物种中，这些酶包括在透镜透明度中起额外结构作用的酶。其他家族在脊椎动物中普遍存在，并且似乎源自于在应激和细胞形态中起作用的蛋白质。目前，我们正在积极研究古老的β（B）和γ（g）晶体蛋白的起源和功能。已经确定了具有压力和癌症相关功能的非晶状体亲属。我们还发现gS晶体蛋白和bA2晶体蛋白具有非晶状体表达，可能反映了非晶状体功能。我们发现gS是小鼠Opj白内障的基因位点，并且有证据表明其在控制纤维细胞结构方面的功能丧失。已经产生了gS和人gD的重组野生型和突变体蛋白用于功能研究。我们还发现了另外两个新的基因在人类和小鼠中与gS基因重叠。- 晶体蛋白，功能，进化，基因募集

Tissues of the eye depend on families of specialized proteins. The major families of the lens are called crystallins. We have shown that in humans and other species crystallins have arisen by gene recruitement of proteins with functions that predate their role in lens. In some species these include enzymes recruited to serve an additionl structural role in lens transparency. Other familes are ubiquitous in vertebrates and seem to be derived from proteins with roles in stress and cell morphology.Currently we are actively examining the origins and functions of the ancient beta(b) and gamma (g) crystallins. Non-lens relatives with stress and cancer related functions have been identified. We have also shown that gS crystallin and bA2 crystallin have non-lens expression possibly relecting a non-lens function. We have found that gS is the locus of the Opj cataract in mouse and have evidence for loss of function in control of fiber cell structure. Recombinant wild type and mutant proteins for gS and human gD have been produced for functional studies. We have also found that two other novel genes overlap the gS gene in human and mouse. - Crystallins, function, evolution, gene recruitement