The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
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DOI：
10.1038/5951
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发表时间：
1999-02-01
期刊：
影响因子：
30.8
通讯作者：
Dahl, N
中科院分区：
文献类型：
--
作者：
Draptchinskaia, N;Gustavsson, P;Dahl, N
Diamond-Blackfan贫血（DBA）是一种以红系前体细胞缺乏或减少为特征的体质性成红细胞减少症。这种疾病以前定位于人类染色体19 q13，经常与各种畸形有关。为了鉴定DBA的相关基因，我们克隆了一例19号染色体易位患者的19 q13断裂点。断裂点位于核糖体蛋白S19编码基因。此外，我们在40名无关的DMA患者中的10名中鉴定了RPS 19的突变，包括无义突变、移码突变、剪接位点突变和错义突变，以及两个基因内缺失。这些突变与提示RPS 19在红细胞生成和胚胎发生中的功能的临床特征相关。
Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformation. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X; 19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DMA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.