CORRECTION OF XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D MUTANT-CELL PHENOTYPES BY CHROMOSOME AND GENE-TRANSFER - INVOLVEMENT OF THE HUMAN ERCC2 DNA-REPAIR GENE
CORRECTION OF XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D MUTANT-CELL PHENOTYPES BY CHROMOSOME AND GENE-TRANSFER - INVOLVEMENT OF THE HUMAN ERCC2 DNA-REPAIR GENE
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DOI：
10.1073/pnas.89.1.261
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发表时间：
1992-01-01
影响因子：
11.1
通讯作者：
SCHULTZ, RA
中科院分区：
文献类型：
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作者：
FLEJTER, WL;MCDANIEL, LD;SCHULTZ, RA
来自患有遗传异质性常染色体隐性遗传病(XP)的个体的培养细胞显示出对紫外线辐射和缺陷核苷酸切除修复的敏感性。将单个人类染色体从修复熟练的细胞引入XP细胞后，这些突变表型的互补提供了一种定位与这种疾病相关的基因的方法。现在，我们报道了来自遗传互补组D(XP-D)的XP细胞被命名为Tneo的单个人类染色体的表型校正。Tneo的详细分子特征揭示了涉及人类16号和19号染色体的重排结构，包括来自19q13.2-q13的人类DNA修复基因簇的切除修复交叉互补2(ERCC2)基因。3.直接转导携带ERCC2基因的粘粒可提高XP-D细胞对紫外线的抗性。
Cultured cells from individuals afflicted with the genetically heterogeneous autosomal recessive disorder xeroderma pigmentosum (XP) exhibit sensitivity to UV radiation and defective nucleotide excision repair. Complementation of these mutant phenotypes after the introduction of single human chromosomes from repair-proficient cells into XP cells has provided a means of mapping the genes involved in this disease. We now report the phenotypic correction of XP cells from genetic complementation group D (XP-D) by a single human chromosome designated Tneo. Detailed molecular characterization of Tneo revealed a rearranged structure involving human chromosomes 16 and 19, including the excision repair cross-complementing 2 (ERCC2) gene from the previously described human DNA repair gene cluster at 19q13.2-q13. 3. Direct transfer of a cosmid bearing the ERCC2 gene conferred UV resistance to XP-D cells.