MOLECULAR BIOLOGY, STRUCTURES AND FUNCTION OF CRYSTALLINS

眼睛的组织依赖于特化蛋白质家族。晶状体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，晶状体蛋白是由蛋白质的基因重复产生的，这些蛋白质的功能早于它们在晶状体中的作用。在一些物种中，这些包括被招募来在晶状体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，似乎起源于与应激和细胞形态有关的蛋白质。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。有压力和癌症相关功能的非晶状体亲属已经被确定。我们还发现GS晶状体蛋白和Ba2晶状体蛋白有非晶状体表达，可能与非晶状体功能有关。我们已经发现GS是小鼠OPJ白内障的基因位点，并且有证据表明GS在控制纤维细胞结构方面失去了功能。重组野生型和突变型GS和人GD蛋白已被用于功能研究。我们还发现，在人类和小鼠中，还有另外两个新基因与GS基因重叠。-晶状体蛋白，功能，进化，基因再结晶

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