Madreperla S A, Bookstein R, Jones O W, Lee W H
Department of Pathology, University of California, San Diego School of Medicine, La Jolla 92093-0612.
Ophthalmic Paediatr Genet. 1991 Mar;12(1):49-56. doi: 10.3109/13816819109023085.
Genesis of the childhood ocular tumor retinoblastoma results from the mutational inactivation of a single gene, RB, located on chromosome 13. Cultured cells or cell lines derived from retinoblastomas have been extensively studied for insight into mutational mechanisms of RB inactivation, functional properties of wild-type RB alleles, and pathways of retinal differentiation. Three such cell lines (Y79, RB355 and WERI-Rb27) were previously shown to have similar, heterozygous rearrangements of their RB genes, suggesting a common mutational mechanism affecting a specific region of the gene. This proposal was based on the premise that all three mutations occurred independently. By using molecular analyses of human genetic polymorphisms, we now show that these three cell lines are in fact genetically related, despite their different origins, morphologies, growth characteristics, and karyotypes. Interpretation of these and other published data suggest that both RB355 and WERI-Rb27 are probably sublines of Y79.
儿童眼部肿瘤视网膜母细胞瘤的发生源于位于13号染色体上的单个基因RB的突变失活。源自视网膜母细胞瘤的培养细胞或细胞系已被广泛研究，以深入了解RB失活的突变机制、野生型RB等位基因的功能特性以及视网膜分化途径。此前已表明，三种这样的细胞系（Y79、RB355和WERI-Rb27）的RB基因具有相似的杂合重排，这表明存在影响该基因特定区域的共同突变机制。该提议基于这三个突变均独立发生的前提。通过对人类遗传多态性进行分子分析，我们现在表明，尽管这三种细胞系起源、形态、生长特性和核型不同，但它们实际上存在遗传关联。对这些数据以及其他已发表数据的解读表明，RB355和WERI-Rb27可能都是Y79的亚系。
